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Chapter 14 References

With


Peer Reviewed By

Ryan Andrews
Cam DePutter
Dr. Trevor Kashey
Kenny Manson
Dr. Victor Peña
Alex Picot-Annand
Jennifer Petrosino
Dr. Jennifer Zantinge

Chapter 14

References

#

1000 Genomes Project Consortium. A global reference for human genetic variation. Nature. 2015 Oct 1;526(7571):68-74.

A

Aaltonen S, Kujala UM, Kaprio J. Factors behind leisure-time physical activity behavior based on Finnish twin studies: The role of genetic and environmental influences and the role of motives. BioMed Research International. 2014;2014:931820.

Abou-Hussein S, Savona-Ventura C, Grima S, Felice A. Genetic factors in risk assessment for the development of type 2 diabetes mellitus in a small case series. Int J Risk Saf Med. 2011;23(2):119-23.

Abe S, Tokoro F, Matsuoka R, Arai M, Noda T, Watanabe S, et al. Association of genetic variants with dyslipidemia. Mol Med Rep. 2015 Oct;12(4):5429-36.

Aboulaich N, Vener AV, Strålfors P. Hormonal control of reversible translocation of perilipin B to the plasma membrane in primary human adipocytes. J Biol Chem. 2006 Apr 28;281(17):11446-9.

Abrahams Y, Laguette MJ, Prince S, Collins M. Polymorphisms within the COL5A1 3′-UTR that alters mRNA structure and the MIR608 gene are associated with Achilles tendinopathy. Ann Hum Genet. 2013 May;77(3):204-14.

Acevedo, S. F., Valencia, C., Lutter, M., & McAdams, CJ. Severity of eating disorder symptoms related to oxytocin receptor polymorphisms in anorexia nervosa. Psychiatry Research. 2015;228(3), 641–648.

Adlam J, Zaman R. The role of BDNF and memory in major depressive disorder. Psychiatr Danub. 2013 Sep;25 Suppl 2:S368-9.

Akimoto AK, Miranda-Vilela AL, Alves PC, Pereira LC, Lordelo GS, Hiragi Cde O, et al. Evaluation of gene polymorphisms in exercise-induced oxidative stress and damage. Free Radical Res. 2010;44(3):322–331.

Al-Abri AR, Al-Rawas O, Al-Yahyaee S, Al-Habori M, Al-Zubairi AS, Bayoumi R. Distribution of the lactase persistence-associated variant alleles -13910* T and -13915* G among the people of Oman and Yemen. Hum Biol. 2012 Jun;84(3):271-86.

Al-Attar SA, Pollex RL, Ban MR, et al. Association between the FTO rs9939609 polymorphism and the metabolic syndrome in a non-Caucasian multi-ethnic sample. Cardiovascular Diabetology. 2008;7:5.

Ali M et al. (1998) . Hereditary fructose intolerance. J. Med. Genet. 35(5):353-65.

Almén MS, Jacobsson JA, Shaik JH, Olszewski PK, Cedernaes J, Alsiö J, et al. The obesity gene, TMEM18, is of ancient origin, found in majority of neuronal cells in all major brain regions and associated with obesity in severely obese children. BMC Medical Genetics. 2010 Apr 9;11(1):58.

Altinisik J, Meric G, Erduran M, Ates O, Ulusal AE, Akseki D. The BstUI and DpnII Variants of the COL5A1 Gene Are Associated With Tennis Elbow. The American Journal of Sports Medicine. 2015 Jul;43(7):1784-9.

Ahlqvist E, Osmark P, Kuulasmaa T, et al. Link between GIP and osteopontin in adipose tissue and insulin resistance. Diabetes. 2013;62(6):2088-2094.

Alimirah F, Peng X, Murillo G, Mehta RG. Functional significance of Vitamin D receptor FokI polymorphism in human breast cancer cells. El-Rifai W, ed. PLoS ONE. 2011;6(1):e16024.

Almal SH, Padh H. Implications of gene copy-number variation in health and diseases. J Hum Genet. 2012 Jan;57(1):6-13.

Altinisik J, Meric G, Erduran M, Ates O, Ulusal AE, Akseki D. The BstUI and DpnII variants of the COL5A1 gene are associated with tennis elbow. Am J Sports Med. 2015 Jul;43(7):1784-9.

Alvarez R, Terrados N, Ortolano R, Iglesias-Cubero G, Reguero JR, Batalla A, et al. Genetic variation in the renin-angiotensin system and athletic performance. Eur J Appl Physiol. 2000; 82:117–120.

Alzheimer’s Association. 2015 Alzheimer’s disease facts and figures. Alzheimers Dement. 2015 Mar;11(3):332-84.

An P, Borecki IB, Rankinen T, Pérusse L, Leon AS, Skinner JS, et al. Evidence of major genes for exercise heart rate and blood pressure at baseline and in response to 20 weeks of endurance training: the HERITAGE family study. Int J Sports Med. 2003;24:492–498.

Andersson SGE, Karlberg O, Canbäck B, Kurland CG. On the origin of mitochondria: a genomics perspective. Philosophical Transactions of the Royal Society B: Biological Sciences. 2003;358(1429):165-179.

Ando T, Komaki G, Nishimura H, et al; Japanese Genetic Research Group for Eating Disorders. A ghrelin gene variant may predict crossover rate from restricting-type anorexia nervosa to other phenotypes of eating disorders: a retrospective survival analysis. Psychiatr Genet. 2010 Aug;20(4):153-9.

Antonarakis ES, Chandhasin C, Osbourne E, Luo J, Sadar MD, Perabo F. Targeting the N-terminal domain of the androgen receptor: a new approach for the treatment of advanced prostate cancer. The oncologist. 2016 Dec 1;21(12):1427-35.

Aoki K. A stochastic model of gene-culture coevolution suggested by the “culture historical hypothesis” for the evolution of adult lactose absorption in humans. Proc Natl Acad Sci USA. 1986; 83: 2929–2933.

Ashraf Q, Galor O. The “Out of Africa” hypothesis, human genetic fiversity, and comparative economic development. The American Economic Review. 2013;103(1):1-46.

Asselbergs FW, Guo Y, van Iperen EPA, et al. Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. American Journal of Human Genetics. 2012;91(5):823-838.

Association for Molecular Pathology v. Myriad Genetics, No. 12-398 (569 U.S. June 13, 2013).

Aston KI. Genetic susceptibility to male infertility: news from genome-wide association studies. Andrology. 2014 May;2(3):315-21.

Atanasov P, Djarova T, Kalinski M, Petrov L, Kaneva R, Mugandani S, et al. ACTN3 and AMPD1 polymorphism and genotype combinations in Bulgarian athletes performing Wingate Test. Journal of Sports Science. 2015 Oct;3(3):1-0.

Atkinson W, Sheldon TA, Shaath N, Whorwell PJ. Food elimination based on IgG antibodies in irritable bowel syndrome: a randomised controlled trial. Gut. 2004; 53: 1459–1464.

Austin MA. Genetic causes of monogenic heterozygous familial hypercholesterolemia: a HuGE prevalence review. Am. J. Epidemiol. 2004;160(5):407-20.

Avau B, Depoortere I. The bitter truth about bitter taste receptors: beyond sensing bitter in the oral cavity. Acta Physiol (Oxf). 2016 Apr;216(4):407-20.

Azimzadeh J, Hergert P, Delouvée A, Euteneuer U, Formstecher E, Khodjakov A, Bornens M. hPOC5 is a centrin-binding protein required for assembly of full-length centrioles. The Journal of Cell Biology. 2009 Apr 6;185(1):101-14.

B

Babel Copaver K, Hertogh C, Hue O. Sprint performance changes and determinants in Afro-Caribbean adolescents between 13 and 15 years old. Journal of Human Kinetics. 2012 Oct 1;34(1):89-98.

Babel K, Hertogh C, Hue O. Influence of ethnic origin on predictive parameters of performance in sprint running in prepubertal boys. International Journal of Sports Medicine. 2005 Nov;26(09):798-802.

Baffour-Awuah NY, Fleet S, Baker SS, et al. Functional significance of single nucleotide polymorphisms in the lactase gene in diverse United States subjects and evidence for a novel lactase persistence allele at -13909 in those of European ancestry. Journal of Pediatric Gastroenterology and Nutrition. 2015;60(2):182-191.

Baggerly KA, Coombes KR. What information should be required to support clinical “omics” publications? Clinical Chemistry. 2011 May 1;57(5):688-90.

Bale J, Sang J. Kenyan running: Movement culture, geography, and global change. Psychology Press; 1996.

Ban Y, Tozaki T, Taniyama M, et al. Multiple SNPs in intron 41 of thyroglobulin gene are associated with autoimmune thyroid disease in the Japanese population. Arez AP, ed. PLoS ONE. 2012;7(5):e37501.

Barfield WL, Uaesoontrachoon K, Wu C-S, Lin S, Chen Y, Wang PC, Kanaan Y, Bond V, Hoffman EP Eccentric muscle challenge shows osteopontin polymorphism modulation of muscle damage. Hum Mol Genet. 2014;23(15):4043–4050.

Barres R, Yan J, Egan B, Treebak JT, Rasmussen M, Fritz T, Caidahl K, Krook A, O’Gorman DJ, Zierath JR. Acute exercise remodels promoter methylation in human skeletal muscle. Cell Metabolism. 2012 Mar 7;15(3):405-11.

Batavani MR, Marandi SM, Ghaedi K, Esfarjani F. Comparison of muscle-specific creatine kinase (CK-MM) gene polymorphism (rs8111989) among professional, amateur athletes and non-athlete karatekas. Asian Journal of Sports Medicine. 2017 Apr(In Press).

Baumert P, Lake MJ, Stewart CE, Drust B, Erskine RM. Genetic variation and exercise-induced muscle damage: implications for athletic performance, injury and ageing. European Journal of Applied Physiology. 2016 Sep 1;116(9):1595-625.

Bayoumi R, De Fanti S, Sazzini M, Giuliani C, Quagliariello A, Bortolini E, et al. Positive selection of lactase persistence among people of Southern Arabia. American Journal of Physical Anthropology. 2016 Dec 1;161(4):676-84.

Behar DM, Harmant C, Manry J, Van Oven M, Haak W, Martinez-Cruz B, et al. The Basque paradigm: Genetic evidence of a maternal continuity in the Franco-Cantabrian region since pre-Neolithic times. American Journal of Human Genetics. 2012 Mar 9;90(3):486-93.

Behrens M, Meyerhof W. Gustatory and extragustatory functions of mammalian taste receptors. Physiol Behav 2011; 105:4–13.

Bellcross CA, Page PZ, Meaney-Delman D. Direct-to-consumer personal genome testing and cancer risk prediction. Cancer J. 2012 Jul-Aug;18(4):293-302.

Bentz EK, Hefler LA, Kaufman U, Huber JC, Kolbus A, Tempfer CB. A polymorphism of the CYP17 gene related to sex steroid metabolism is associated with female-to-male but not male-to-female transsexualism. Fertil Steril. 2008;90:56–59.

Bentz S, Hausmann M, Piberger H, Kellermeier S, Paul S, et al. Clinical relevance of IgG antibodies against food antigens in Crohn’s disease: a double-blind cross-over diet intervention study. Digestion. 2010. 81: 252–264.

Berciano S, Lai CQ, Herranz J, Aslibekyan S, Claas SA, Irvin MR, Tsai MY, Hopkins PN, Hidalgo B, Arnett DK, Ordovas JM. Behavior related genes, dietary preferences and anthropometric traits. The FASEB Journal. 2017 Apr 1;31(1 Supplement):299-1.

Berge T, Leikfoss IS, Brorson IS, et al. The multiple sclerosis susceptibility genes TAGAP and IL2RA are regulated by vitamin D in CD4+ T cells. Genes and Immunity. 2016;17(2):118-127.

Berger LR, Hawks J, de Ruiter DJ, Churchill SE, Schmid P, Delezene LK, et al. Homo naledi, a new species of the genus Homo from the Dinaledi Chamber, South Africa. Elife. 2015 Sep 10;4:e09560.

Berndt SI, Gustafsson S, Mägi R, et al. Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. Nature Genetics. 2013;45(5):501-512.

Bevan CL, Hoare S, Claessens F, Heery DM, Parker MG. The AF1 and AF2 domains of the androgen receptor interact with distinct regions of SRC1. Molecular and Cellular Biology. 1999;19(12):8383-8392.

Bid HK, Konwar R, Aggarwal CG, Gautam S, Saxena M, Nayak VL, Banerjee M. Vitamin D receptor (FokI, BsmI and TaqI) gene polymorphisms and type 2 diabetes mellitus: a North Indian study. Indian J Med Sci. 2009 May;63(5):187-94.

Bilbao-Sieyro C, Ramírez-Moreno R, Rodríguez-González G, et al. Microsatellite instability and ploidy status define three categories with distinctive prognostic impact in endometrioid endometrial cancer. Oncotarget. 2014;5(15):6206-6217.

Billmann-Born S, Lipinski S, Böck J, Till A, Rosenstiel P, Schreiber S. The complex interplay of NOD-like receptors and the autophagy machinery in the pathophysiology of Crohn disease. Eur J Cell Biol. 2011 Jun-Jul;90(6-7):593-602.

Bimboim, HC, Doly J. A rapid alkaline extraction procedure for screening recombinant plasmid DNA. Nucl Acids Res 1979; 7 (6): 1513-1523.

Björn LO, Wang T. Vitamin D in an ecological context. International journal of Circumpolar Health. 2000 Jan;59(1):26-32.

Bocherens H, Bonilla MD, Daujeard C, Fernandes P, Raynal JP, Moncel MH. Direct isotopic evidence for subsistence variability in Middle Pleistocene Neanderthals (Payre, southeastern France). Quaternary Science Reviews. 2016 Dec 15;154:226-36.

Bohgaki T, Bohgaki M, Hakem R. DNA double-strand break signaling and human disorders. Genome integrity. 2010 Nov 5;1(1):15.

Bokor S, Legry V, Meirhaeghe A, Ruiz JR, Mauro B, Widhalm K,; HELENA Study group, et al. Single-nucleotide polymorphism of CD36 locus and obesity in European adolescents. Obesity (Silver Spring). 2010 Jul;18(7):1398-403.

Bollepalli S, Dolan LM, Deka R, Martin LJ. Association of FTO gene variants with adiposity in African-American adolescents. Obesity (Silver Spring). 2010 Oct;18(10):1959-63.

Bondar C, Plaza-Izurieta L, Fernandez-Jimenez N, et al. THEMIS and PTPRK in celiac intestinal mucosa: coexpression in disease and after in vitro gliadin challenge. European Journal of Human Genetics. 2014;22(3):358-362.

Bonnefond A, Yengo L, Dechaume A, Canouil M, et al. Relationship between salivary/pancreatic amylase and body mass index: A systems biology approach. BMC Medicine. 2017 Feb 23;15(1):37.

Borry P. Statement of the ESHG on direct-to-consumer genetic testing for health-related purposes. European Society of Human Genetics. European Journal of Human Genetics. 2010 Dec 1;18(12):1271-3.

Bosco P, Caraci F, Copani A, Spada RS, Sortino MA, Salluzzo R, et al. The CDC2 I-G-T haplotype associated with the APOE epsilon4 allele increases the risk of sporadic Alzheimer’s disease in Sicily. Neurosci Lett. 2007 Jun 4;419(3):195-8.

Botigué LR, Henn BM, Gravel S, Maples BK, Gignoux CR, Corona E, et al. Gene flow from North Africa contributes to differential human genetic diversity in southern Europe. Proceedings of the National Academy of Sciences. 2013 Jul 16;110(29):11791-6.

Bouatia-Naji N et al. A polymorphism within the G6PC2 gene is associated with fasting plasma glucose levels. Science. 2008 May 23;320(5879):1085-8.

Bouchard C, Daw EW, Rice T, Pérusse LO, Gagnon J, Province MA, et al. Familial resemblance for VO2max in the sedentary state: the HERITAGE family study. Medicine and Science in Sports and Exercise. 1998 Feb;30(2):252-8.

Bouchard C, An P, Rice T, Skinner JS, Wilmore JH, Gagnon J, et al. Familial aggregation of VO2 max response to exercise training: results from the HERITAGE Family Study. Journal of Applied Physiology. 1999 Sep 1;87(3):1003-8.

Bouteldja N et al. The biochemical basis of hereditary fructose intolerance. J. Inherit. Metab. Dis. 2010; 33(2):105-12.

Brain O, Cooney R, Simmons A, Jewell D. Functional consequences of mutations in the autophagy genes in the pathogenesis of Crohn’s disease. Inflamm Bowel Dis. 2012 Apr;18(4):778-81.

Brand OJ, Gough SC. Genetics of thyroid autoimmunity and the role of the TSHR. Mol Cell Endocrinol. 2010 Jun 30;322(1-2):135-43.

Braun TR, Been LF, Singhal A, et al. A replication study of GWAS-derived lipid genes in Asian Indians: The chromosomal region 11q23.3 harbors loci contributing to triglycerides. Montgomery CG, ed. PLoS ONE. 2012;7(5):e37056.

Brito-Zerón P, Kostov B, Bosch X, Acar-Denizli N, Ramos-Casals M, Stone JH. Therapeutic approach to IgG4-related disease: A systematic review. Pezzilli. R, ed. Medicine. 2016;95(26):e4002.

Brito-Zerón P, Ramos-Casals M, Bosch X, Stone JH. The clinical spectrum of IgG4-related disease. Autoimmun Rev. 2014 Dec;13(12):1203-10.

Brorsson CA, Pociot F, Type 1 Diabetes Genetics Consortium. Shared genetic basis for type 1 diabetes, islet autoantibodies, and autoantibodies associated with other immune-mediated diseases in families with type 1 diabetes. Diabetes Care. 2015 Oct 1;38(Supplement 2):S8-13.

Brown JC, Miller CJ, Schwellnus MP, Collins M. Range of motion measurements diverge with increasing age for COL5A1 genotypes. Scand J Med Sci Sports. 2011 Dec;21(6):e266-72.

Brutsaert TD, Parra EJ, Shriver MD, Gamboa A, Palacios JA, Rivera M, et al. Spanish genetic admixture is associated with larger VO2 max decrement from sea level to 4,338 m in Peruvian Quechua. Journal of Applied Physiology. 2003 Aug 1;95(2):519-28.

Burger J, Kirchner M, Bramanti B, Haak W, Thomas MG. Absence of the lactase-persistence-associated allele in early Neolithic Europeans. Proceedings of the National Academy of Sciences. 2007 Mar 6;104(10):3736-41.

Burger M, de Wet H, Collins M. The COL5A1 gene is associated with increased risk of carpal tunnel syndrome. Clin Rheumatol. 2015 Apr;34(4):767-74..

Burgess DJ. Evolutionary genetics: Haunted by the past — modern consequences of Neanderthal DNA. Nature Reviews Genetics. 2016 Mar 7.

Burgos G, López‐Cortés A, Herrera C, Gaviria A, Tejera E, Cabrera‐Andrade A. A study of the molecular variants associated with lactase persistence in different Ecuadorian ethnic groups. American Journal of Human Biology. 2016 Nov 1;28(6):774-81.

Burke, Wylie, and Ron Zimmern. Moving beyond ACCE: An expanded framework for genetic test Evaluation. A paper for the United Kingdom Genetic Testing Network. UK: Department of Health for the UK Genetic Testing Network (UKGTN). September 2007 www.phgfoundation.org

C

Cagliani R, Fumagalli M, Pozzoli U, et al. Diverse evolutionary histories for β-adrenoreceptor genes in humans. American Journal of Human Genetics. 2009;85(1):64-75.

Cai C, Shen J, Zhao D, Qiao Y, Xu A, Jin S, Ran Z, Zheng Q. Serological investigation of food specific immunoglobulin G antibodies in patients with inflammatory bowel diseases. PloS one. 2014 Nov 13;9(11):e112154.

Camp KM, Trujillo E. Position of the Academy of Nutrition and Dietetics: Nutritional genomics. J Acad Nutr Diet 2014;114(2):299–312.

Campbell MC, Tishkoff SA. African genetic diversity: Implications for human demographic history, modern human origins, and complex disease mapping. Annual review of genomics and human genetics. 2008;9:403-433.

Canivell S, Ruano EG, Sisó-Almirall A, et al. Gastric inhibitory polypeptide receptor methylation in newly diagnosed, drug-naïve patients with Type 2 Diabetes: A case-control study. Holscher C, ed. PLoS ONE. 2013;8(9):e75474.

Cannon DS, Baker TB, Piper ME, Scholand MB, Lawrence DL, Drayna DT, et al. Associations between phenylthiocarbamide gene polymorphisms and cigarette smoking. Nicotine Tob Res. 2005 Dec;7(6):853-8.

Cao Y, Wang X, Cao Z, Cheng X. Vitamin D receptor gene FokI polymorphisms and tuberculosis susceptibility: a meta-analysis. Archives of Medical Science : AMS. 2016;12(5):1118-1134.

Cao-Lei L, Laplante DP, King S. Prenatal maternal stress and epigenetics: Review of the human research. Current Molecular Biology Reports. 2016 Mar 1;2(1):16-25.

Carpenter D, Dhar S, Mitchell LM, et al. Obesity, starch digestion and amylase: association between copy number variants at human salivary (AMY1) and pancreatic (AMY2) amylase genes. Human Molecular Genetics. 2015;24(12):3472-3480.

Carethers JM, Koi M, Tseng-Rogenski SS. EMAST is a form of microsatellite instability that is initiated by inflammation and modulates colorectal cancer progression. Genes. 2015 Mar 31;6(2):185-205.

Carr EJ, Niederer HA, Williams J, et al. Confirmation of the genetic association of CTLA4 and PTPN22 with ANCA-associated vasculitis. BMC Medical Genetics. 2009;10:121.

Cauci S, Di Santolo M, Ryckman KK, Williams SM, Banfi G. Variable number of tandem repeat polymorphisms of the interleukin-1 receptor antagonist gene IL-1RN: A novel association with the athlete status. BMC Med Genet. 2010; 11(1):29

Cecil JE, Tavendale R, Watt P, Hetherington MM, Palmer CN. An obesity-associated FTO gene variant and increased energy intake in children. N Engl J Med. 2008;359: 2558–2566.

Centers for Disease Control. CDC Summaries of EGAPP™ Recommendation Statements.

Centers for Disease Control. Cancer rates by race/ethnicity and sex. Data from National Vital Statistics System (NVSS). 2017.

Centers for Disease Control and Center for Surveillance, Epidemiology and Laboratory Services (CSELS). ACCE model List of 44 targeted questions aimed at a comprehensive review of genetic testing. United States: 2010.

Ceperuelo-Mallafré V, Duran X, Pachón G, Roche K, Garrido-Sánchez L, Vilarrasa N, et al. Disruption of GIP/GIPR axis in human adipose tissue is linked to obesity and insulin resistance. J Clin Endocrinol Metab. 2014 May;99(5):E908-19.

Cha SW, Choi SM, Kim KS, Park BL, Kim JR, Kim JY, Shin HD. Replication of genetic effects of FTO polymorphisms on BMI in a Korean population. Obesity (Silver Spring) 2008;16:2187–2189.

Chabchoub G, Teixiera EP, Maalej A, Ben Hamad M, Bahloul Z, Cornelis F, Ayadi H. The R620W polymorphism of the protein tyrosine phosphatase 22 gene in autoimmune thyroid diseases and rheumatoid arthritis in the Tunisian population. Ann Hum Biol. 2009 May-Jun;36(3):342-9.

Chan MC, Arany Z. The Many roles of PGC-1α in Muscle – Recent Developments. Metabolism: Clinical and Experimental. 2014;63(4):441-451.

Chang YC, Liu PH, Lee WJ, Chang TJ, Jiang YD, Li HY, et al. Common variation in the fat mass and obesity-associated (FTO) gene confers risk of obesity and modulates BMI in the Chinese population. Diabetes. 2008;57:2245–2252.

Charlesworth B. The organization and evolution of the human Y chromosome. Genome Biology. 2003;4(9):226.

Chatzikyriakidou A, Voulgari PV, Lambropoulos A, Georgiou I, Drosos AA. Validation of the TAGAP rs212389 polymorphism in rheumatoid arthritis susceptibility. Joint Bone Spine. 2013 Oct;80(5):543-4.

Chen Y, Cao B, Yang J, Wei Q, Ou RW, Zhao B, et al. Analysis and meta-analysis of five polymorphisms of the LINGO1 and LINGO2 genes in Parkinson’s disease and multiple system atrophy in a Chinese population. Journal of Neurology. 2015 Nov 1;262(11):2478-83.

Chen J, Yang M, Zhao K, Xu A, Huang Q. Polymorphisms in FTO, TMEM18 and PCSK1 are associated with BMI in southern Chinese population. J Genet. 2014 Aug;93(2):509-12.

Chen M, Baumbach J, Vandin F, Röttger R, Barbosa E, Dong M, Frost M, Christiansen L, Tan Q. Differentially methylated genomic regions in birth-weight discordant twin pairs. Ann Hum Genet. 2016 Mar;80(2):81-7.

Chen R, Stahl EA, Kurreeman FAS, et al. Fine mapping the TAGAP risk locus in rheumatoid arthritis. Genes and Immunity. 2011;12(4):314-318.

Chen T, Xu X-Y, Zhou P-H. Emerging molecular classifications and therapeutic implications for gastric cancer. Chinese Journal of Cancer. 2016;35:49. doi:10.1186/s40880-016-0111-5.

Cheng JB, Levine MA, Bell NH, Mangelsdorf DJ, Russell DW. Genetic evidence that the human CYP2R1 enzyme is a key vitamin D 25-hydroxylase. Proceedings of the National Academy of Sciences of the United States of America. 2004 May 18;101(20):7711-5.

Cheng X, Zhu B, Jiang F, Fan H. Serum FGF-21 levels in type 2 diabetic patients. Endocrine research. 2011 Oct 1;36(4):142-8.

Cherry L, Calo C, Talmaci R, Perrin P, Gavrila L. β-Thalassemia haplotypes in Romania in the context of genetic mixing in the Mediterranean area. Hemoglobin. 2016;40(2):85-96.

Chimienti F, Devergnas S, Favier A, Seve M. Identification and cloning of a β-cell-specific Zinc transporter, ZnT-8, localized into insulin secretory granules. Diabetes. 2004;53:2330–2337.

Chomczynski P, Sacchi N. Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Analytical Biochemistry. 1987 Apr 1;162(1):156-9. (See also: Product and process for isolating RNA, US 4843155 A for the original patent.)

Chomczynski P, Sacchi N. The single-step method of RNA isolation by acid guanidinium thiocyanate–phenol–chloroform extraction: Twenty-something years on. Nature Protocols. 2006 Aug 1;1(2):581-5.

Clark AA, Liggett SB, Munger SD. Extraoral bitter taste receptors as mediators of off-target drug effects. The FASEB Journal. 2012;26(12):4827-4831.

Clarke TK, Weiss AR, Berrettini WH. The genetics of anorexia nervosa. Clin Pharmacol Ther. 2012 Feb;91(2):181-8.

Clarkson et al. ACTN3 genotype is associated with increases in muscle strength in response to resistance training in women. J Appl Physiol. 2005; 99(1):154-63.

Clarkson PM, Hoffman EP, Zambraski E, Gordish-Dressman H, Kearns A, Hubal M, Harmon B, Devaney JM. ACTN3 and MLCK genotype associations with exertional muscle damage. J Appl Physiol. 2005; 99(2):564–569.

Clarkson PM, Hoffman EP, Zambraski E, Gordish-Dressman H, Kearns A, Hubal M, et al. ACTN3 and MLCK genotype associations with exertional muscle damage. J Appl Physiol. 2005; 99(2):564–569.

Cobayashi F, Hatzlhoffer Lourenço B, Augusto Cardoso M. 25-Hydroxyvitamin D3 levels, BsmI polymorphism and insulin resistance in Brazilian Amazonian children. Qi L, ed. International Journal of Molecular Sciences. 2015;16(6):12531-12546.

Coffee EM et al. (2010) . Increased prevalence of mutant null alleles that cause hereditary fructose intolerance in the American population. J. Inherit. Metab. Dis. 33(1):33-42.

Colombini A, Brayda-Bruno M, Lombardi G, Croiset SJ, Ceriani C, Buligan C, et al.  BsmI, ApaI and TaqI polymorphisms in the Vitamin D receptor gene (VDR) and association with lumbar spine pathologies: An Italian case-control study. PLoS ONE. 2016;11(5): e0155004.

Cook GC, al-Torki MT. High intestinal lactase concentrations in adult Arabs in Saudi Arabia. British Medical Journal. 1975;3(5976):135-136.

Cook-Deegan R, Niehaus A. After Myriad: Genetic testing in the wake of recent Supreme Court decisions about gene patents. Current Genetic Medicine Reports. 2014;2(4):223-241.

Colonese F, Laganà AS, Colonese E, et al. The pleiotropic effects of Vitamin D in gynaecological and obstetric diseases: An overview on a hot topic. BioMed Research International. 2015;2015:986281.

Connelly TM, Berg AS, Harris LR 3rd, Hegarty JP, Ruggiero FM, Deiling SM, et al. T-cell activation Rho GTPase-activating protein expression varies with inflammation location and severity in Crohn’s disease. J Surg Res. 2014 Aug;190(2):457-64.

Consortium TYC. A nomenclature system for the tree of human Y-chromosomal binary haplogroups. Genome Research. 2002;12(2):339-348.

Corella D, Lai CQ, Demissie S, Cupples LA, Manning AK, Tucker KL, Ordovas JM. APOA5 gene variation modulates the effects of dietary fat intake on body mass index and obesity risk in the Framingham Heart Study. Journal of Molecular Medicine. 2007 Feb 1;85(2):119-28.

Corella D, Peloso G, Arnett DK, Demissie S, Cupples LA, Tucker K, et al. APOA2, dietary fat, and body mass index: replication of a gene-diet interaction in 3 independent populations. Archives of Internal Medicine. 2009 Nov 9;169(20):1897-906.

Corella D, Qi L, Tai ES, Deurenberg-Yap M, Tan CE, Chew SK, Ordovas JM. Perilipin gene variation determines higher susceptibility to insulin resistance in Asian women when consuming a high-saturated fat, low-carbohydrate diet. Diabetes Care. 2006 Jun;29(6):1313-9.

Covolo, L., Rubinelli, S., Ceretti, E., & Gelatti, U. Internet-based direct-to-consumer genetic testing: A systematic review. Journal of Medical Internet Research. 2015;17(12), e279.

Criswell, LA, Pfeiffer KA, Lum, RF, et al. Analysis of families in the multiple autoimmune disease genetics consortium (MADGC) collection: the PTPN22 620W allele associates with multiple autoimmune phenotypes. American Journal of Human Genetics. 2005;76(4), 561–571.

Curtin PD. The slavery hypothesis for hypertension among African Americans: the historical evidence. American Journal of Public Health. 1992;82(12):1681-1686.

D

Dar-Nimrod I, Zuckerman M, Duberstein PR. The effects of learning about one’s own genetic susceptibility to alcoholism: a randomized experiment. Genet Med. 2013 Feb;15(2):132-8.

Daoudi H, Plesník J, Sayed A, Šerý O, Rouabah A, Rouabah L, Khan NA. Oral fat sensing and CD36 gene polymorphism in Algerian lean and obese teenagers. Nutrients. 2015 Nov 4;7(11):9096-104.

de Jager W, Vastert SJ, Beekman JM, Wulffraat NM, Kuis W, Coffer PJ, Prakken BJ. Defective phosphorylation of interleukin-18 receptor beta causes impaired natural killer cell function in systemic-onset juvenile idiopathic arthritis. Arthritis Rheum. 2009 Sep;60(9):2782-93.

De R, Hu T, Moore JH, Gilbert-Diamond D. Characterizing gene-gene interactions in a statistical epistasis network of twelve candidate genes for obesity. BioData Mining. 2015;8:45.

Degrace-Passilly P, Besnard P. CD36 and taste of fat. Curr Opin Clin Nutr Metab Care. 2012 Mar;15(2):107-11.

den Hoed, M, Westerterp-Plantenga MS, Bouwman FG, Mariman ECM, Westerterp KR. Postprandial responses in hunger and satiety are associated with the rs9939609 single nucleotide polymorphism in FTO. Am. J. Clin. Nutr. 2009;90: 1426–1432.

Dennis EL, Jahanshad N, Braskie MN, et al. Obesity gene NEGR1 associated with white matter integrity in healthy young adults. NeuroImage. 2014;102(0 2):548-557.

Dennis RA, Trappe TA, Simpson P, Carroll C, Huang BE. Interleukin-1 polymorphisms are associated with the inflammatory response in human muscle to acute resistance exercise. J Physiol. 2004;560(3):617–626.

Denny JC, Crawford DC, Ritchie MD, et al. Variants near FOXE1 are associated with hypothyroidism and other thyroid conditions: Using electronic medical records for genome- and phenome-wide studies. American Journal of Human Genetics. 2011;89(4):529-542.

Deram S, Nicolau CY, Perez-Martinez P, et al. Effects of perilipin (PLIN) gene variation on metabolic syndrome risk and weight loss in obese children and adolescents. The Journal of Clinical Endocrinology and Metabolism. 2008;93(12):4933-4940.

Deurenberg P, Deurenberg-Yap M, Guricci S. Asians are different from Caucasians and from each other in their body mass index/body fat per cent relationship. Obes Rev. 2002 Aug; 3(3):141-6.

Deuster PA, Contreras-Sesvold CL, O’Connor FG, Campbell WW, Kenney K, Capacchione JF, et al. Genetic polymorphisms associated with exertional rhabdomyolysis. Eur J Appl Physiol. 2013; 113(8):1997–2004.

Devaney JM, Hoffman EP, Gordish-Dressman H, Kearns A, Zambraski E, Clarkson PM IGF-II gene region polymorphisms related to exertional muscle damage. J Appl Physiol. 2007;102(5):1815–1823.

Dhawan D, Padh H. Pharmacogenetics: technologies to detect copy number variations. Curr Opin Mol Ther. 2009 Dec;11(6):670-80.

Dianov GL, Hübscher U. Mammalian base excision repair: the forgotten archangel. Nucleic Acids Research. 2013 Apr 1;41(6):3483-90.

Dias AG, Eny KM, Cockburn M, Chiu W, Nielsen DE, Duizer L, El-Sohemy A. Variation in the TAS1R2 gene, sweet taste perception and intake of sugars. J. Nutrigenetics Nutrigenomics. 2015;8(2):81-90.

Dina C, Meyre D, Gallina S, Durand E, Körner A, Jacobson P, et al. Variation in FTO contributes to childhood obesity and severe adult obesity. Nature Genetics. 2007 Jun 1;39(6):724-6.

Do R, Willer CJ, Schmidt EM, et al. Common variants associated with plasma triglycerides and risk for coronary artery disease. Nature Genetics. 2013;45(11):1345-1352.

Domżał-Magrowska D, Kowalski MK, Szcześniak P, Bulska M, Orszulak-Michalak D, Małecka-Panas E. The prevalence of celiac disease in patients with irritable bowel syndrome and its subtypes. Przegla̜d Gastroenterologiczny. 2016;11(4):276-281.

Dorajoo R, Blakemore AI, Sim X, Ong RT, Ng DP, et al. Replication of 13 obesity loci among Singaporean Chinese, Malay and Asian-Indian populations. Int J Obes (Lond). 2012 Jan;36(1):159-63.

Dotson CD, Zhang L, Xu H, et al. Bitter taste receptors influence glucose homeostasis. Matsunami H, ed. PLoS ONE. 2008;3(12):e3974.

Douglas JE, Cohen NA. Taste receptors mediate sinonasal immunity and respiratory disease. International Journal of Molecular Sciences. 2017;18(2):437.

Drabant EM, Kiefer AK, Eriksson N, Mountain JL, Francke U, Tung JY, Hinds DA, Do CB. Genome-wide association study of sexual orientation in a large, web-based cohort. 23andMe research paper. 2012.

Drayna D. Human taste genetics. Annu. Rev. Genomics Hum. Genet.. 2005 Sep 22;6:217-35.

Dubois PC et al. Multiple common variants for celiac disease influencing immune gene expression. Nat Genet. 2010;42(4):295-302.

Dupuis J, Langenberg C, Prokopenko I, et al. New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. Nature Genetics. 2010;42(2):105-116.

Durães C, Moreira CS, Alvelos I, et al. Polymorphisms in the TNFA and IL6 genes represent risk factors for autoimmune thyroid disease. Arez AP, ed. PLoS ONE. 2014;9(8):e105492.

E

Easton DF, Pharoah PDP, Antoniou AC, et al. Gene-panel sequencing and the prediction of breast cancer risk. The New England Journal of Medicine. 2015;372(23):2243-2257.

Egglestone C, Morris A, O’Brien A. Effect of direct-to-consumer genetic tests on health behaviour and anxiety: a survey of consumers and potential consumers. J Genet Couns. 2013 Oct;22(5):565-75.

Eider J, Ahmetov II, Fedotovskaya ON, Moska W, Cieszczyk P, Zarebska A, et al. CKM gene polymorphism in Russian and Polish rowers. Russian Journal of Genetics. 2015 Mar 1;51(3):318-21.

El Khoury L, Posthumus M, Collins M, Handley CJ, Cook J, Raleigh SM. Polymorphic variation within the ADAMTS2, ADAMTS14, ADAMTS5, ADAM12 and TIMP2 genes and the risk of Achilles tendon pathology: a genetic association study. J Sci Med Sport. 2013 Nov;16(6):493-8.

Elkasrawy MN, Hamrick MW. Myostatin (GDF-8) as a key factor linking muscle mass and skeletal form. Journal of Musculoskeletal & Neuronal Interactions. 2010;10(1):56-63.

Enattah NS, Jensen TG, Nielsen M, Lewinski R, Kuokkanen M, Rasinpera H, et al. Independent introduction of two lactase-persistence alleles into human populations reflects different history of adaptation to milk culture. The American Journal of Human Genetics. 2008 Jan 10;82(1):57-72.

Eny KM, Wolever TM, Fontaine-Bisson B, El-Sohemy A. Genetic variant in the glucose transporter type 2 is associated with higher intakes of sugars in two distinct populations. Physiological Genomics. 2008 May 1;33(3):355-60.

Epel ES, Blackburn EH, Lin J, et al. Accelerated telomere shortening in response to life stress. Proceedings of the National Academy of Sciences of the United States of America. 2004;101(49):17312-17315.

Eriksson N, Tung JY, Kiefer AK, et al. Novel associations for hypothyroidism include known autoimmune risk loci. PLoS ONE. 2012;7(4):e34442.

Eriksson N, Wu S, Do CB, Kiefer AK, Tung JY, Mountain JL, Hinds DA, Francke U. A genetic variant near olfactory receptor genes influences cilantro preference. Flavour. 2012 Nov 29;1(1):22.

Ermini L, Wilson IJ, Goodship TH, Sheerin NS. Complement polymorphisms: geographical distribution and relevance to disease. Immunobiology. 2012 Feb;217(2):265-71.

Erten G, Kalkan M, Bilgiç Gazioğlu S, Akdeniz N, Ozkok E, Vural B. TaqI, FokI, and ApaI polymorphisms in the Vitamin D receptor in Behçet’s disease in Turkish population. Disease Markers. 2016 Sep 1;2016.

Esposito G, et al. Structural and functional analysis of aldolase B mutants related to hereditary fructose intolerance. FEBS Lett. 2002;531(2):152-6.

Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Working Group. The EGAPP initiative: lessons learned. Genet Med. 2014 Mar;16(3):217-24.

Eynon N, Banting LK, Ruiz JR, et al. ACTN3 R577X polymorphism and team-sport performance: a study involving three European cohorts. J Sci Med Sport. 2014 Jan;17(1):102-6.

Eyre S, Hinks A, Bowes J, et al. Overlapping genetic susceptibility variants between three autoimmune disorders: rheumatoid arthritis, type 1 diabetes and coeliac disease. Arthritis Research & Therapy. 2010;12(5):R175.

F

Fahed AC et al. Familial hypercholesterolemia: the lipids or the genes? Nutr Metab (Lond). 2011;8(1):23.

Falchi M, Moustafa JS, Takousis P, Pesce F, Bonnefond A, Andersson-Assarsson JC, et al. Low copy number of the salivary amylase gene predisposes to obesity. Nature Genetics. 2014 May 1;46(5):492-7.

Farh KK-H, Marson A, Zhu J, et al. Genetic and epigenetic fine-mapping of causal autoimmune disease variants. Nature. 2015;518(7539):337-343.

Fawcett KA, Barroso I. The genetics of obesity: FTO leads the way. Trends in Genetics. 2010;26(6):266-274.

Fayzullina S et al. Genetic associations with traits in 23andMe customers. 23andMe White Paper. 2014.

Fedotovskaya ON, Popov DV, Vinogradova OL, Akhmetov II. Association of the muscle-specific creatine kinase (CKMM) gene polymorphism with physical performance of athletes. Fiziologiia Cheloveka. 2011 Dec;38(1):105-9.

Fedotovskaya ON, Jerzy E, Cieszczky P, Ahmetov I, Moska W, Sawczyn S, et al. Association of muscle-specific creatine kinase (CKM) gene polymorphism with combat athlete status in Polish and Russian cohorts. Archives of Budo. 2013 Oct 30;9(3):233-7.

Felix JF, Bradfield JP, Monnereau C, et al. Genome-wide association analysis identifies three new susceptibility loci for childhood body mass index. Human Molecular Genetics. 2016;25(2):389-403.

Fernandes BS, Molendijk ML, Köhler CA, Soares JC, Leite CM, Machado-Vieira R, et al. Peripheral brain-derived neurotrophic factor (BDNF) as a biomarker in bipolar disorder: a meta-analysis of 52 studies. BMC Medicine. 2015 Nov 30;13(1):289.

Fernández R, Cortés-Cortés J, Esteva I, Gómez-Gil E, Almaraz MC, Lema E, et al. The CYP17 MspA1 polymorphism and the gender dysphoria. J Sex Med. 2015 Jun;12(6):1329-33.

Fernández R, Esteva I, Gómez-Gil E, Rumbo T, Almaraz MC, Roda E, et al. Association study of ERβ, AR, and CYP19A1 genes and MtF transsexualism. J Sex Med. 2014 Dec;11(12):2986-94.

Fernández R, Esteva I, Gómez-Gil E, Rumbo T, Almaraz MC, Roda E, et al. The (CA)n polymorphism of ERβ gene is associated with FtM transsexualism. J Sex Med. 2014 Mar;11(3):720-8.

Ferreira-Gonzalez A, Emmadi R, Day SP, Klees RF, Leib JR, Lyon E, Nowak JA, Pratt VM, Williams MS, Klein RD. Revisiting oversight and regulation of molecular-based laboratory-developed tests: a position statement of the Association for Molecular Pathology. The Journal of Molecular Diagnostics. 2014 Jan 31;16(1):3-6.

Florez JC. Clinical review: the genetics of type 2 diabetes: a realistic appraisal in 2008. J Clin Endocrinol Metab. 2008;93:4633–4642.

Foster BP, Morse CI, Onambele GL, Williams AG. Human COL5A1 rs12722 gene polymorphism and tendon properties in vivo in an asymptomatic population. European Journal of Applied Physiology. 2014 Jul 1;114(7):1393-402.

Frampton GM, Fabrizio DA, Chalmers ZR, Sun JX, Miller VA, Stephens PJ. Assessment and comparison of tumor mutational burden and microsatellite instability status in> 40,000 cancer genomes. Annals of Oncology. 2016 Oct 1;27(suppl 6): 520.

Francis Thackeray J. Estimating the age and affinities of Homo naledi. South African Journal of Science. 2015 Dec;111(11-12):1-2.

Frayling TM, Timpson NJ, Weedon MN, et al. A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity. Science. 2007;316(5826):889-94.

Fredriksson R, Hagglund M, Olszewski PK, Stephansson O, Jacobsson JA, et al. The obesity gene, FTO, is of ancient origin, up-regulated during food deprivation and expressed in neurons of feeding-related nuclei of the brain. Endocrinology. 2008;149: 2062–2071.

Friedel S, Fontenla Horro F, Wermter AK, Geller F, Dempfle A, Reichwald K, et al. Mutation screen of the brain derived neurotrophic factor gene (BDNF): identification of several genetic variants and association studies in patients with obesity, eating disorders, and attention‐deficit/hyperactivity disorder. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. 2005 Jan 5;132(1):96-9.

Friedlaender JS, Friedlaender FR, Reed FA, et al. The genetic structure of Pacific Islanders. Pritchard JK, ed. PLoS Genetics. 2008;4(1):e19.

Frueh FW, Greely HT, Green RC, Hogarth S, Siegel S. The future of direct-to-consumer clinical genetic tests. Nature Reviews Genetics. 2011;12(7):511-515.

Fu Q, Hajdinjak M, Moldovan OT, et al. An early modern human from Romania with a recent Neanderthal ancestor. Nature. 2015;524(7564):216-219.

Funghetto SS, Prestes J, Silva Ade O, Farias DL, Teixeira TG, Vieira DC, et al. Interleukin-6 −174G/C gene polymorphism affects muscle damage response to acute eccentric resistance exercise in elderly obese women. Exp Gerontol. 2013;48(11):1255–1259.

G

Gamero-Villarroel C, González LM, Gordillo I, Carrillo JA, García-Herráiz A, Flores I, Rodríguez-López R, Gervasini G. Impact of NEGR1 genetic variability on psychological traits of patients with eating disorders. Pharmacogenomics J. 2015 Jun;15(3):278-83.

Gamero-Villarroel C, Gordillo I, Carrillo JA, García-Herráiz A, Flores I, Jiménez M, Monge M, Rodríguez-López R, Gervasini G. BDNF genetic variability modulates psychopathological symptoms in patients with eating disorders. Eur Child Adolesc Psychiatry. 2014 Aug;23(8):669-79.

Gao W, Bohl CE, Dalton JT. Chemistry and structural biology of androgen receptor. Chemical Reviews. 2005;105(9):3352-3370.

Garatachea N, Fiuza-Luces C, Torres-Luque G, Yvert T, Santiago C, Gómez-Gallego F, Ruiz JR, Lucia A. Single and combined influence of ACE and ACTN3 genotypes on muscle phenotypes in octogenarians. Eur J Appl Physiol. 2012 Jul;112(7):2409-20.

García-Bailo B, Jamnik J, Da Costa LA, Badawi A, and El-Sohemy A. Genetic variation in the vitamin D receptor and biomarkers of cardiometabolic disease in an ethnically diverse population of young adults. J Nutrigenetics Nutrigenomics. 2013;6:256-67.

García-Bailo B, Jamnik J, Da Costa LA, Borchers CH, Badawi A, El-Sohemy A. Plasma 25-hydroxyvitamin D, hormonal contraceptive use, and the plasma proteome in Caucasian, East Asian, and South Asian young adults. Journal of Proteome Research. 2013 Mar 6;12(4):1797-807.

Garver WS, Newman SB, Gonzales-Pacheco DM, et al. The genetics of childhood obesity and interaction with dietary macronutrients. Genes & Nutrition. 2013;8(3):271-287.

Gaulton KJ, Willer CJ, Li Y, et al. Comprehensive association study of Type 2 diabetes and related quantitative traits with 222 candidate genes. Diabetes. 2008;57(11):3136-3144.

Gerken T, Girard CA, Tung YC, Webby CJ, Saudek V, Hewitson KS, Yeo GS, et al.The obesity-associated FTO gene encodes a 2-oxoglutarate dependent nucleic acid demethylase. Science. 2007;318(5855):1469-72.

Ginevičienė V, Jakaitienė A, Pranculis A, Milašius K, Tubelis L, Utkus A. AMPD1 rs17602729 is associated with physical performance of sprint and power in elite Lithuanian athletes. BMC Genetics. 2014 May 17;15(1):58.

Girard CA, Wunderlich FT, Shimomura K, Collins S, Kaizik S, Proks P, et al. Expression of an activating mutation in the gene encoding the KATP channel subunit Kir6. 2 in mouse pancreatic β cells recapitulates neonatal diabetes. The Journal of Clinical Investigation. 2009 Jan 5;119(1):80.

Glas J, Seiderer J, Wetzke M, et al. rs1004819 Is the main disease-associated IL23R variant in German Crohn’s disease patients: Combined analysis of IL23R, CARD15, and OCTN1/2 variants. Kronenberg F, ed. PLoS ONE. 2007;2(9):e819.

Glas J, Stallhofer J, Ripke S, Wetzke M, et al. Novel genetic risk markers for ulcerative colitis in the IL2/IL21 region are in epistasis with IL23R and suggest a common genetic background for ulcerative colitis and celiac disease. Am J Gastroenterol. 2009 Jul;104(7):1737-44.

Glew RH, Williams M, Conn CA, Cadena SM, Crossey M, Okolo SN, VanderJagt DJ. Cardiovascular disease risk factors and diet of Fulani pastoralists of northern Nigeria. Am J Clin Nutr. 2001 Dec;74(6):730-6.

Gögebakan Ö, Osterhoff MA, Schüler R, Pivovarova O, Kruse M, Seltmann AC, Mosig AS, Rudovich N, Nauck M, Pfeiffer AF. GIP increases adipose tissue expression and blood levels of MCP-1 in humans and links high energy diets to inflammation: a randomised trial. Diabetologia. 2015 Aug;58(8):1759-68.

Goldberg AC, Hopkins PN, Toth PP, Ballantyne CM, Rader DJ, Robinson JG, et al. Familial hypercholesterolemia: screening, diagnosis and management of pediatric and adult patients: clinical guidance from the National Lipid Association Expert Panel on Familial Hypercholesterolemia. Journal of Clinical Lipidology. 2011 Jun 30;5(3):S1-8.

Gómez-Vaquero, Carmen, Jordi Fiter, Ana Enjuanes, Xavier Nogués, Adolfo Díez-Pérez and Joan M Nolla. Influence of the BsmI polymorphism of the vitamin D receptor gene on rheumatoid arthritis clinical activity. J Rheumatol 2007;34;1823-1826.

Gomez F, Hirbo J, Tishkoff SA. Genetic variation and adaptation in Africa: Implications for human evolution and disease. Cold Spring Harbor Perspectives in Biology. 2014;6(7):a008524.

Gordon ES, Griffin G, Wawak L, Pang H, Gollust SE, Bernhardt BA. “It’s not like judgment day”: Public understanding of and reactions to personalized genomic risk information. 2012 Jun 1;21(3):423-32.

Grant SFA, Li M, Bradfield JP, et al. Association analysis of the FTO gene with obesity in children of Caucasian and African ancestry reveals a common tagging SNP. PLoS ONE. 2008;3(3):e1746.

Gratacòs M, González JR, Mercader JM, de Cid R, Urretavizcaya M, Estivill X. Brain-derived neurotrophic factor Val66Met and psychiatric disorders: meta-analysis of case-control studies confirm association to substance-related disorders, eating disorders, and schizophrenia. Biological Psychiatry. 2007 Apr 1;61(7):911-22.

Grealy R, Herruer J, Smith CLE, Hiller D, Haseler LJ, Griffiths LR. Evaluation of a 7-gene genetic profile for athletic endurance phenotype in Ironman championship triathletes. PLoS ONE. 2015;10(12): e0145171.

Gujral N et al. Celiac disease: prevalence, diagnosis, pathogenesis and treatment. World J Gastroenterol. 2012;18(42):6036-59.

Gunstad J, Schofield P, Paul RH, Spitznagel MB, Cohen RA, Williams LM, Kohn M, Gordon E. BDNF Val66Met polymorphism is associated with body mass index in healthy adults. Neuropsychobiology. 2006 Jun 6;53(3):153-6.

Guo, Hong, et al. The value of eliminating foods according to food-specific Immunoglobulin G antibodies in irritable bowel syndrome with diarrhoea. The Journal of International Medical Research 2012; 40: 204 – 210.

Gupta RP, Hollis BW, Patel SB, Patrick KS, Bell NH. CYP3A4 is a human microsomal Vitamin D 25-hydroxylase. J Bone Miner Res. 2004 Apr 1;19(4):680-8.

H

Hagberg JM, Moore GE, Ferrell RE. Specific genetic markers of endurance performance and VO2max. Exercise and Sport Sciences Reviews. 2001 Jan 1;29(1):15-9.

Hägg S, Ganna A, Van Der Laan SW, et al. Gene-based meta-analysis of genome-wide association studies implicates new loci involved in obesity. Human Molecular Genetics. 2015;24(23):6849-6860.

Hamzelou, Jessica. Exclusive: World’s first baby born with new “3 parent” technique. New Scientist Sept 27, 2016.

Hare L, Bernard P, Sánchez FJ, et al. Androgen receptor repeat length polymorphism associated with male-to-female transsexualism. Biological Psychiatry. 2009;65(1):93-96.

Harrisberger F, Spalek K, Smieskova R, Schmidt A, Coynel D, Milnik A, et al. The association of the BDNF Val66Met polymorphism and the hippocampal volumes in healthy humans: a joint meta-analysis of published and new data. Neurosci Biobehav Rev. 2014 May;42:267-78.

Harrison A. LSD: The geek’s wonder drug? Wired. 2006 16 Jan.

Harvie P, Ostlere SJ, Teh J, McNally EG, Clipsham K, Burston BJ, Pollard TC, Carr AJ. Genetic influences in the aetiology of tears of the rotator cuff. Bone & Joint Journal. 2004 Jul 1;86(5):696-700.

Hashimoto K, Koizumi H, Nakazato M, Shimizu E, Iyo M. Role of brain-derived neurotrophic factor in eating disorders: recent findings and its pathophysiological implications. Prog Neuropsychopharmacol Biol Psychiatry. 2005 May;29(4):499-504.

Hassan HY, Erp A, Jaeger M, Tahir H, Oosting M, Joosten LA, Netea MG. Genetic diversity of lactase persistence in East African populations. BMC research notes. 2016 Jan 4;9(1):8.

Hause RJ, Pritchard CC, Shendure J, Salipante SJ. Classification and characterization of microsatellite instability across 18 cancer types. Nature Medicine. 2016 Oct 3.

Hayes JE, Feeney EL, Allen AL. Do polymorphisms in chemosensory genes matter for human ingestive behavior?. Food quality and preference. 2013 Dec 31;30(2):202-216.

Hebebrand J, Volckmar A-L, Knoll N, Hinney A. Chipping away the “missing heritability”: GIANT steps forward in the molecular elucidation of obesity – but still lots to go. Obes Facts 2010;3:294-303.

Hedl M, Zheng S, Abraham C. The IL18RAP region disease polymorphism decreases IL-18RAP/IL-18R1/IL-1R1 expression and signaling through innate receptor-initiated pathways. Journal of immunology (Baltimore, Md : 1950). 2014;192(12):5924-5932.

Hehemann JH, Correc G, Barbeyron T, Helbert W, Czjzek M, Michel G. Transfer of carbohydrate-active enzymes from marine bacteria to Japanese gut microbiota. Nature. 2010 Apr 8;464(7290):908-12.

Heianza Y, Sun D, Wang T, Bray GA, Sacks FM, Qi L. Abstract P223: Starch digestion related amylase genotypes affect 2-year adiposity changes in response to weight-loss diets: The pounds lost trial. Circulation. 2017;135:AP223

Heled Y, Bloom MS, Wu TJ, Stephens Q, Deuster PA. CM-MM and ACE genotypes and physiological prediction of the creatine kinase response to exercise. J Appl Physiol. 2007;103(2):504–510.

Hellenthal G, Busby GB, Band G, Wilson JF, Capelli C, Falush D, Myers S. A genetic atlas of human admixture history. Science. 2014 Feb 14;343(6172):747-51.

Hellfritsch C, Brockhoff A, Stähler F, Meyerhof W, Hofmann T. Human psychometric and taste receptor responses to steviol glycosides. J Agric Food Chem. 2012 Jul 11;60(27):6782-93.

Hendriks HF. Use of nutrigenomics endpoints in dietary interventions. Proc Nutr Soc. 2013 Aug;72(3):348-51.

Hennig BJ, Fulford AJ, Sirugo G, et al. FTO gene variation and measures of body mass in an African population. BMC Medical Genetics. 2009;10:21.

Henningsson S, Westberg L, Nilsson S, Lundström B, Ekselius L, Bodlund O, et al. Sex steroid-related genes and male-to-female transsexualism. Psychoneuroendocrinology. 2005;30:657–664.

Hernández AF, Menéndez P. Linking pesticide exposure with pediatric leukemia: Potential underlying mechanisms. International Journal of Molecular Sciences. 2016;17(4):461.

Hester J, Wing M, Li J, et al. Implication of European-derived adiposity loci in African Americans. International Journal of Obesity (2005). 2012;36(3):465-473.

Hettema JM, An S-S, van den Oord EJCG, Neale MC, Kendler KS, Chen X. Genetic association between RGS1 and internalizing disorders. Psychiatric Genetics. 2013;23(2):56-60.

Hettling H, van Beek JH. Analyzing the functional properties of the creatine kinase system with multiscale “sloppy” modeling. PLoS Comput Biol. 2011 Aug 11;7(8):e1002130.

Hickey SE, Curry CJ, Toriello HV. ACMG practice guideline: Lack of evidence for MTHFR polymorphism testing. Genet Med 2013;15(2):153–56.

Hill SC, Mohammad TR, Kivisild T. Brief communication: Effect of nomadic subsistence practices on lactase persistence associated genetic variation in Kuwait. Am J Phys Anthropol. 2013 Sep;152(1):140-4.

Hinney A, Volckmar AL. Genetics of eating disorders. Curr Psychiatry Rep. 2013 Dec;15(12):423.

Hollands Gareth J, French David P, Griffin Simon J, Prevost A Toby, Sutton Stephen, King Sarah et al. The impact of communicating genetic risks of disease on risk-reducing health behaviour: systematic review with meta-analysis BMJ 2016; 352:i1102.

Holzapfel C, Grallert H, Huth C, et al. Genes and lifestyle factors in obesity: results from 12 462 subjects from MONICA/KORA. International Journal of Obesity. 2010;34(10):1538-1545.

Hong KW, Oh B. Recapitulation of genome-wide association studies on body mass index in the Korean population. Int J Obes (Lond). 2012 Aug;36(8):1127-30.

Hong, Xiumei et al. Gene polymorphisms, breast-feeding, and development of food sensitization in early childhood. Journal of Allergy and Clinical Immunology , Volume 128 , Issue 2 , 374 – 381.e2.

Hosang GM, Shiles C, Tansey KE, McGuffin P, Uher R. Interaction between stress and the BDNF Val66Met polymorphism in depression: a systematic review and meta-analysis. BMC Med. 2014 Jan 16;12:7.

Hotta K, Nakata Y, Matsuo T, et al. Variations in the FTO gene are associated with severe obesity in the Japanese. Journal of Human Genetics. 2008;53(6):546-553.

Hoxha M, Dioni L, Bonzini M, Pesatori AC, Fustinoni S, Cavallo D, et al. Association between leukocyte telomere shortening and exposure to traffic pollution: a cross-sectional study on traffic officers and indoor office workers. Environmental Health. 2009 Sep 21;8(1):41.

Hu J, Mei Q, Huang J, Hu N-Z, Liu X-C, Xu J-M. Association of MYO9B gene polymorphisms with inflammatory bowel disease in Chinese Han population. World Journal of Gastroenterology : WJG. 2014;20(23):7466-7472.

Huaixing L, Wu Y, Loos RJF, Hu FB, Liu Y, Wang J, et al. Variants in the fat mass–and obesity-Associated (FTO) gene are not associated with obesity in a Chinese Han population. Diabetes Jan 2008, 57 (1) 264-268.

Huang TY, Zheng D, Houmard JA, Brault JJ, Hickner RC, Cortright RN. Overexpression of PGC-1α increases peroxisomal biogenesis and mitochondrial lipid oxidation in human primary myotubes. The FASEB Journal. 2016 Apr 1;30(1 Supplement):1246-3.

Hubal MJ, Devaney JM, Hoffman EP, Zambraski EJ, Gordish-Dressman H, Kearns AK, et al. CCL2 and CCR2 polymorphisms are associated with markers of exercise-induced skeletal muscle damage. J Appl Physiol. 2010;108(6):1651–1658.

Hunt KA, Zhernakova A, Turner G, et al. Novel celiac disease genetic determinants related to the immune response. Nature Genetics. 2008;40(4):395-402.

Hunt SC, Stone S, Xin Y, et al. Association of the FTO gene with BMI. Obesity (Silver Spring, Md). 2008;16(4):902-904.

I

Imai K, Kricka LJ, Fortina P. Concordance study of 3 direct-to-consumer genetic-testing services. Clinical Chemistry. 2011 Mar 1;57(3):518-21.

Imtiaz F, Savilahti E, Sarnesto A, et al. The T/G−13915 variant upstream of the lactase gene (LCT) is the founder allele of lactase persistence in an urban Saudi population. Journal of Medical Genetics. 2007;44(10):e89.

Ingram CJ, Mulcare CA, Itan Y, Thomas MG, Swallow DM. Lactose digestion and the evolutionary genetics of lactase persistence. Human Genetics. 2009 Jan 1;124(6):579-91.

Ingram CJ, Raga TO, Tarekegn A, Browning SL, Elamin MF, Bekele E, Thomas MG, Weale ME, Bradman N, Swallow DM. Multiple rare variants as a cause of a common phenotype: several different lactase persistence associated alleles in a single ethnic group. J Mol Evol. 2009 Dec;69(6):579-88.

Inoue N, Watanabe M, Yamada H, Takemura K, Hayashi F, Yamakawa N, Akahane M, Shimizuishi Y, Hidaka Y, Iwatani Y. Associations between autoimmune thyroid disease prognosis and functional polymorphisms of susceptibility genes, CTLA4, PTPN22, CD40, FCRL3, and ZFAT, previously revealed in genome-wide association studies.  J Clin Immunol. 2012 Dec;32(6):1243-52.

International Federation of Sports Medicine. Consensus statement on direct-to-consumer genetic testing for sports performance and talent identification. British Journal of Sports Medicine 2015.

International Standards Organization (ISO). ISO 15189:2012 Medical laboratories — Requirements for quality and competence and ISO 16577 Molecular biomarker analysis.

Itan Y, Powell A, Beaumont MA, Burger J, Thomas MG. The origins of lactase persistence in Europe. PLoS Comput Biol. 2009 Aug 28;5(8):e1000491.

Iwao-Koizumi K, Ota T, Hayashida M, Yonetani Y, Nakata K. The ACTN3 gene is a potential biomarker for the risk of non-contact sports injury in female athletes. J Mol Biomark Diagn. 2014;S6:2.

J

Jacobsson, JA, Schiöth HB, Fredriksson R. The impact of intronic single nucleotide polymorphisms and ethnic diversity for studies on the obesity gene FTO. Obes. Rev. 2012;13: 1096–1109.

Jacquemont S, Reymond A, Zufferey F, Harewood L, Walters RG, Kutalik Z, et al. Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11. 2 locus. Nature. 2011 Oct 6;478(7367):97-102.

James KM, Cowl CT, Tilburt JC, et al. Impact of direct-to-consumer predictive genomic testing on risk perception and worry among patients receiving routine care in a preventive health clinic. Mayo Clinic Proceedings. 2011;86(10):933-940.

Jamnik J, García-Bailo B, Borchers HC, El-Sohemy A. Gluten intake is associated with plasma α2-macroglobulin in young adults without celiac disease. J. Nutrition. 2015;145(6):1256-62.

Januar V, Saffery R, Ryan J. Epigenetics and depressive disorders: a review of current progress and future directions. Int J Epidemiol 2015; 44 (4): 1364-1387.

Jayewardene AF, Mavros Y, Gwinn T, Hancock DP, Rooney KB. Associations between CD36 gene polymorphisms and metabolic response to a short-term endurance-training program in a young-adult population. Appl Physiol Nutr Metab. 2016 Feb;41(2):157-67.

Jiang L, Sun L-Y, Dai Y-F, Yang S-W, Zhang F, Wang L-Y. The distribution and characteristics of LDL receptor mutations in China: A systematic review. Scientific Reports. 2015;5:17272.

Jin T, Liu L The Wnt signaling pathway effector TCF7L2 and type 2 diabetes mellitus. Mol. Endocrinol. 2008; 22 (11): 2383–92.

Jensen RA. Orthologs and paralogs – we need to get it right. Genome Biology. 2001;2(8):interactions1002.1-interactions1002.3.

Joerg Baten & Matthias Blum (2012) Growing Tall but Unequal: New Findings and New Background Evidence on Anthropometric Welfare in 156 Countries, 1810–1989, Economic History of Developing Regions, 27:sup1, S66-S85, DOI: 10.1080/20780389.2012.657489.

Johansen CT, Wang J, Lanktree MB, et al. Mutation skew in genes identified by genome-wide association study of hypertriglyceridemia. Nature Genetics. 2010;42(8):684-687.

Jolliffe DA, Walton RT, Griffiths CJ, Martineau AR. Single nucleotide polymorphisms in the vitamin D pathway associating with circulating concentrations of vitamin D metabolites and non-skeletal health outcomes: Review of genetic association studies. J Steroid Biochem Mol Biol. 2016 Nov;164:18-29.

Jones BL, Oljira T, Liebert A, et al. Diversity of lactase persistence in African milk drinkers. Human Genetics. 2015;134(8):917-925.

Joshi, L., Ponnana, M., Penmetsa, S. R., Nallari, P., Valluri, V. and Gaddam, S. (2014), Serum Vitamin D levels and VDR polymorphisms (BsmI and FokI) in patients and their household contacts susceptible to tuberculosis. Scand J Immunol, 79: 113–119.

K

Kang R, Kim M, Chae JS, Lee SH, Lee JH. Consumption of whole grains and legumes modulates the genetic effect of the APOA5-1131C variant on changes in triglyceride and apolipoprotein AV concentrations in patients with impaired fasting glucose or newly diagnosed type 2 diabetes. Trials. 2014 Apr 1;15(1):100.

Kaplan H, Thompson RC, Trumble BC, Wann LS, et al. Coronary atherosclerosis in indigenous South American Tsimane: a cross-sectional cohort study. The Lancet. 2017 Mar 17.

Karmin, M., Saag, L., Vicente, M., et al. (2015). A recent bottleneck of Y chromosome diversity coincides with a global change in culture. Genome Research, 25(4), 459–466.

Kaufman JS, Hall SA. The slavery hypertension hypothesis: Dissemination and appeal of a modern race theory. Epidemiology. 2003 Jan 1;14(1):111-8.

Kelishadi R. Childhood overweight, obesity, and the metabolic syndrome in developing countries. Epidemiologic Reviews. 2007;29(1):62-76.

Keller KL, Liang LCH, Sakimura J, et al. Common variants in the CD36 gene are associated with oral fat perception, fat preferences, and obesity in African Americans. Obesity (Silver Spring, Md). 2012;20(5):1066-1073.

Ken-Dror G, Goldbourt U, Dankner R. Different effects of apolipoprotein A5 SNPs and haplotypes on triglyceride concentration in three ethnic origins. Journal of Human Genetics. 2010 May 1;55(5).

Keskitalo K, Knaapila A, Kallela M, Palotie A, Wessman M, Sammalisto S, et al. Sweet taste preferences are partly genetically determined: identification of a trait locus on chromosome 16. The American Journal of Clinical Nutrition. 2007 Jul 1;86(1):55-63.

Khashayar P, Heshmat R, Qorbani M, Motlagh ME, Aminaee T, Ardalan G, et al. Metabolic syndrome and cardiovascular risk factors in a national sample of adolescent population in the middle east and north Africa: the CASPIAN III study. International journal of endocrinology. 2013 Feb 6;2013.

Kim S, Eom KW, Cho CR, Um TH. Comparison of commercial genetic-testing services in Korea with 23andMe service BioMed Research International. 2014.

Kinnamon SC. Taste receptor signalling—from tongues to lungs. Acta Physiol (Oxf) 2012;204(2):158–68.

Kilpeläinen TO et al. Physical activity attenuates the influence of FTO variants on obesity risk: A meta-analysis of 218,166 adults and 19,268 children. PLoS Med. 2011;8(11):e1001116.

Kilpeläinen TO, Lakka TA, Laaksonen DE, Laukkanen O, Lindström J, Eriksson JG, et al. Physical activity modifies the effect of SNPs in the SLC2A2 (GLUT2) and ABCC8 (SUR1) genes on the risk of developing type 2 diabetes. Physiological Genomics. 2007 Oct 1;31(2):264-72.

Kim JY, Kim OY, Koh SJ, Jang Y, Yun SS, Ordovas JM, Lee JH. Comparison of low-fat meal and high-fat meal on postprandial lipemic response in non-obese men according to the− 1131T> C polymorphism of the apolipoprotein A5 (APOA5) gene (randomized cross-over design). Journal of the American College of Nutrition. 2006 Aug 1;25(4):340-7.

Kim SK, Massett MP. Genetic regulation of endothelial vasomotor function. Frontiers in Physiology. 2016;7:571.

Kirk EA, Moore CW, Chater‐Diehl EJ, Singh SM, Rice CL.  Human COL5A1 polymorphisms and quadriceps muscle–tendon mechanical stiffness in vivo. Experimental Physiology. 2016 Dec 1;101(12):1581-92.

Kitamoto A, Kitamoto T, Mizusawa S, et al. NUDT3 rs206936 is associated with body mass index in obese Japanese women. Endocr J. 2013;60(8):991-1000.

Kivell TL, Deane AS, Tocheri MW, Orr CM, Schmid P, Hawks J, et al The hand of Homo naledi. Nature Communications. 2015 Oct 6;6.

Kobernick AK, Burks AW. Active treatment for food allergy. Allergol Int. 2016 Oct;65(4):388-395.

Kolovos P, Knoch TA, Grosveld FG, Cook PR, Papantonis A. Enhancers and silencers: an integrated and simple model for their function. Epigenetics & Chromatin. 2012 Jan 9;5(1):1.

Kongsbak M, Levring TB, Geisler C, von Essen MR. The Vitamin D receptor and T cell function. Frontiers in Immunology. 2013;4:148.

Koskinen LL, Einarsdottir E, Dukes E, Heap GA, et al. Association study of the IL18RAP locus in three European populations with coeliac disease. Hum Mol Genet. 2009 Mar 15;18(6):1148-55.

Kristeleit RS, Miller RE, Kohn EC. Gynecologic cancers: Emerging novel strategies for targeting DNA repair deficiency. American Society of Clinical Oncology. Meeting 2015 Dec (Vol. 35, pp. e259-68).

Kristiansson K, Perola M, Tikkanen E, et al. Genome-wide screen for metabolic syndrome susceptibility Loci reveals strong lipid gene contribution but no evidence for common genetic basis for clustering of metabolic syndrome traits. Circulation Cardiovascular Genetics. 2012;5(2):242-249.

Krueger PM, Coleman-Minahan K, Rooks RN. Race/ethnicity, nativity, and trends in body mass index among U.S. adults. Obesity (Silver Spring, Md). 2014;22(7):1739-1746.

Kumar S, Verma AK, Das M, Dwivedi PD. A molecular insight of CTLA-4 in food allergy. Immunol Lett. 2013 Jan;149(1-2):101-9.

Kuś A, Szymański K, Peeters RP, Miśkiewicz P, Porcu E, et al. The association of thyroid peroxidase antibody risk loci with susceptibility to and phenotype of Graves’ disease. Clin Endocrinol (Oxf). 2015 Oct;83(4):556-62.

Kusuma P, Cox MP, Pierron D, et al. Mitochondrial DNA and the Y chromosome suggest the settlement of Madagascar by Indonesian sea nomad populations. BMC Genomics. 2015;16(1):191.

Kvandová M, Majzúnová M, Dovinová I. The role of PPARgamma in cardiovascular diseases. Physiol Res. 2016 Oct 24;65(Supplementum 3):S343-S363.

L

Laeger T, Henagan TM, Albarado DC, Redman LM, Bray GA, Noland RC, et al. FGF21 is an endocrine signal of protein restriction. The Journal of Clinical Investigation. 2014 Sep 2;124(9):3913.

Laffitte A, Neiers F, Briand L. Functional roles of the sweet taste receptor in oral and extraoral tissues. Current Opinion in Clinical Nutrition and Metabolic Care. 2014;17(4):379-385.

Laguette MJ, Abrahams Y, Prince S, Collins M. Sequence variants within the 3′-UTR of the COL5A1 gene alters mRNA stability: implications for musculoskeletal soft tissue injuries. Matrix Biol. 2011 Jun;30(5-6):338-45.

Lange N, Unger FT, Schöppler M, Pursche K, Juhl H, David KA. Identification and validation of a potential marker of tissue quality using gene expression analysis of human colorectal tissue. Song L, ed. PLoS ONE. 2015;10(7):e0133987.

Larsen SC, Ängquist L, Østergaard JN, Ahluwalia TS, et al. Intake of total and subgroups of fat minimally affect the associations between selected single nucleotide polymorphisms in the PPARγ pathway and changes in anthropometry among European adults from cohorts of the DiOGenes study. The Journal of Nutrition. 2016 Mar 1;146(3):603-11.

Laukkanen O, Lindström J, Eriksson J, Valle TT, Hämäläinen H, Ilanne-Parikka P, et al.  Polymorphisms in the SLC2A2 (GLUT2) gene are associated with the conversion from impaired glucose tolerance to type 2 diabetes: the Finnish Diabetes Prevention Study. Diabetes. 2005 Jul;54(7):2256-60.

Laws SM, Perneczky R, Wagenpfeil S, Müller U, Förstl H, Martins RN, Kurz A, Riemenschneider M. TNF polymorphisms in Alzheimer disease and functional implications on CSF beta-amyloid levels. Hum Mutat. 2005 Jul;26(1):29-35.

Lee HJ, Li CW, Hammerstad SS, Stefan M, Tomer Y. Immunogenetics of autoimmune thyroid diseases: A comprehensive review. Journal of autoimmunity. 2015;64:82-90..

Lee HS, Kang J, Yang S, Kim D, Park Y. Susceptibility influence of a PTPN22 haplotype with thyroid autoimmunity in Koreans. Diabetes Metab Res Rev. 2011 Nov;27(8):878-82.

Lee RJ, Cohen NA. Taste receptors in innate immunity. Cellular and Molecular Life Sciences : CMLS. 2015;72(2):217-236.

Lee T-W, Bai K-J, Lee T-I, Chao T-F, Kao Y-H, Chen Y-J. PPARs modulate cardiac metabolism and mitochondrial function in diabetes. Journal of Biomedical Science. 2017;24:5.

Leighton JW, Valverde K, Bernhardt BA. The general public’s understanding and perception of direct-to-consumer genetic test results. Public Health Genomics. 2012;15(1):11-21.

Leonard WR. Lifestyle, diet, and disease: comparative perspectives on the determinants of chronic health risks. Evolution in Health and Disease ed. Stephen C. Stearns and Jacob C. Koella. Oxford University Press, 2008: 265-276.

Leskinen T, Kujala UM. Health-related findings among twin pairs discordant for leisure-time physical activity for 32 years: The TWINACTIVE study synopsis. Twin Res Hum Genet. 2015 Jun;18(3):266-72.

Lewinsky RH, Jensen TG, Møller J, Stensballe A, Olsen J, Troelsen JT. T− 13910 DNA variant associated with lactase persistence interacts with Oct-1 and stimulates lactase promoter activity in vitro. Human Molecular Genetics. 2005 Dec 15;14(24):3945-53.

Li P, Yang XK, Wang X, Zhao MQ, Zhang C, Tao SS, et al. A meta-analysis of the relationship between MYO9B gene polymorphisms and susceptibility to Crohn’s disease and ulcerative colitis. Hum Immunol. 2016 Oct;77(10):990-6.

Li R, Li W, Lun Z, et al. Prevalence of metabolic syndrome in mainland China: a meta-analysis of published studies. BMC Public Health. 2016;16:296.

Liao N, Chen M-L, Zhao H, Xie Z-F. Association between the MYO9B polymorphisms and celiac disease risk: a meta-analysis. International Journal of Clinical and Experimental Medicine. 2015;8(9):14916-14925.

Liao Y-C, Lin H-F, Rundek T, et al. Multiple genetic determinants of plasma lipid levels in Caribbean Hispanics. Clinical Biochemistry. 2008;41(4-5):306-312.

Libioulle C, Louis E, Hansoul S, Sandor C, Farnir F, Franchimont D, et al. Novel Crohn’s disease locus identified by genome-wide association maps to a gene desert on 5p13.1 and modulates expression of PTGER4.” PLoS Genet. 2007; 3(4):e58.

Liebert A, Jones BL, Danielsen ET, Olsen AK, Swallow DM, Troelsen JT. In vitro functional analyses of infrequent nucleotide variants in the lactase enhancer reveal different molecular routes to increased lactase promoter activity and lactase persistence. Annals of Human Genetics. 2016. 80: 307–318.

Lienhart W-D, Gudipati V, Macheroux P. The human flavoproteome. Archives of Biochemistry and Biophysics. 2013;535(2):150-162.

Lipson M, Loh P-R, Patterson N, et al. Reconstructing Austronesian population history in Island Southeast Asia. Nature Communications. 2014;5:4689.

Little RD, Carulli JP, Del Mastro RG, et al. A mutation in the LDL receptor–related protein 5 gene results in the autosomal dominant high–bone-mass trait. American Journal of Human Genetics. 2002;70(1):11-19.

Little TJ, Isaacs NJ, Young RL, Ott R, Nguyen NQ, Rayner CK, Horowitz M, Feinle-Bisset C. Characterization of duodenal expression and localization of fatty acid-sensing receptors in humans: relationships with body mass index. Am J Physiol Gastrointest Liver Physiol. 2014 Nov 15;307(10):G958-67.

Liu S, Wilson JG, Jiang F, Griswold M, Correa A, Mei H. Multi-variant study of obesity risk genes in African Americans: The Jackson Heart Study. Gene. 2016 Nov 30;593(2):315-21.

Liu X, Meng F, Yang P. Association study of CD36 single nucleotide polymorphisms with essential hypertension in the Northeastern Han Chinese. Gene. 2013 Sep 15;527(1):410-5.

Liu XG, Hu HY, Guo YH, Sun YP. Correlation between Y chromosome microdeletion and male infertility. Genet Mol Res. 2016 Jun 3;15(2).

Livingstone KM, Celis-Morales C, Papandonatos GD, Erar B, et al. FTO genotype and weight loss: systematic review and meta-analysis of 9563 individual participant data from eight randomised controlled trials. BMJ. 2016 Sep 20;354:i4707.

Llauradó M, Majem B, Castellví J, Cabrera S, Gil-Moreno A, Reventós J, Ruiz A. Analysis of gene expression regulated by the ETV5 transcription factor in OV90 ovarian cancer cells identifies FOXM1 overexpression in ovarian cancer. Molecular Cancer Research. 2012 Jul 1;10(7):914-24.

Locke JM, Wei F-Y, Tomizawa K, Weedon MN, Harries LW. A cautionary tale: the non-causal association between type 2 diabetes risk SNP, rs7756992, and levels of non-coding RNA, CDKAL1-v1. Diabetologia. 2015;58(4):745-748.

Long S, Goldblatt J. MTHFR genetic testing: Controversy and clinical implications. Aust Fam Physician. 2016 Apr;45(4):237-40.

Loos RJ. Genetic determinants of common obesity and their value in prediction. Best practice & research Clinical endocrinology & metabolism. 2012 Apr 30;26(2):211-26.

Loos RJF, Yeo GSH. The bigger picture of FTO – the first GWAS-identified obesity gene. Nature Reviews Endocrinology. 2014;10(1):51-61.

Lopez-Ramos O, Panduro A, Martinez-Lopez E. Genetic variant in the CD36 Gene (rs1761667) is associated with higher fat intake and high serum cholesterol among the population of West Mexico. J Nutr Food Sci. 2005;5:1-5.

Love-Gregory L, Abumrad NA. CD36 genetics and the metabolic complications of obesity. Current Opinion in Clinical Nutrition and Metabolic Care. 2011;14(6):527-534.

Lowe JK, Maller JB, Pe’er I, Neale BM, Salit J, Kenny EE, Shea JL, Burkhardt R, Smith JG, Ji W, Noel M. Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae. PLoS Genet. 2009 Feb 6;5(2):e1000365.

Lu S, Guo S, Hu F, et al. The associations between the polymorphisms of Vitamin D receptor and coronary artery disease: A systematic review and meta-analysis. Aykan. A, ed. Medicine. 2016;95(21):e3467.

Lucia A, Gómez-Gallego F, Santiago C, Bandrés F, Earnest C, Rabadán M, et al. ACTN3 genotype in professional endurance cyclists. Int J Sports Med. 2006 Nov;27(11):880-4.

Lucia A, Martin MA, Esteve‐Lanao J, et al. C34T mutation of the AMPD1 gene in an elite white runner. British Journal of Sports Medicine. 2006;40(3):e7.

Lucía A, Morán M, Zihong H, Ruiz JR. Elite athletes: are the genes the champions?. International Journal of Sports Physiology and Performance. 2010 Mar;5(1):98.

Lynce F, Isaacs C. How far do we go with genetic evaluation? Gene, panel, and tumor testing. In American Society of Clinical Oncology educational book/ASCO. American Society of Clinical Oncology. Meeting 2015 Dec (Vol. 35, pp. e72-8).

M

MacArthur DG, North KN. A gene for speed? The evolution and function of alpha-actinin-3. Bioessays. 2004;26(7):786-95.

MacArthur DG, Seto JT, Raftery JM, Quinlan KG, Huttley GA, Hook JW, et al. Loss of ACTN3 gene function alters mouse muscle metabolism and shows evidence of positive selection in humans. Nat Genet. 2007; 39(10):1261-5.

MacArthur DG, Seto JT, Chan S, Quinlan KG, Raftery JM, Turner N, et al. An Actn3 knockout mouse provides mechanistic insights into the association between alpha-actinin-3 deficiency and human athletic performance.” Hum Mol Genet. 2008; 17(8):1076-86.

Mägi R, Manning S, Yousseif A, et al. Contribution of 32 GWAS-identified common variants to severe obesity in European adults referred for bariatric surgery. Grant SFA, ed. PLoS ONE. 2013;8(8):e70735.

Maierhaba M, Zhang JA, Yu ZY, Wang Y, Xiao WX, Quan Y, Dong BN. Association of the thyroglobulin gene polymorphism with autoimmune thyroid disease in Chinese population. Endocrine. 2008 Jun;33(3):294-9.

Mancuso P. The role of adipokines in chronic inflammation. ImmunoTargets and Therapy. 2016;5:47-56.

Mandal RK, Yaday SS, Panda AK, Khattrib S. Insertion/deletion polymorphism of the ACE gene increased risk of Behcet disease: evidence from a meta-analysis. Annals of Saudi medicine. 2013 Sep 1;33(5):437.

Mandel AL, Breslin PA. High endogenous salivary amylase activity is associated with improved glycemic homeostasis following starch ingestion in adults. J Nutr. 2012;142:853-858.

Mantha AK, Sarkar B, Tell G. A short review on the implications of base excision repair pathway for neurons: relevance to neurodegenerative diseases. Mitochondrion. 2014 May 31;16:38-49.

Marchio C, De Filippo MR, Ng CK, Soslow RA, Reis-Filho JS, Weigelt B. Microsatellite instability status in endometrioid endometrial carcinomas is associated with distinct types and patterns of PI3K pathway mutations. Cancer Research. 2015;75(15).

Marinò M, Latrofa F, Menconi F, Chiovato L, Vitti P. Role of genetic and non-genetic factors in the etiology of Graves’ disease. J Endocrinol Invest. 2015 Mar;38(3):283-94.

Marteau TM, French DP, Griffin SJ, Prevost AT, Sutton S, Watkinson C, Attwood S, Hollands GJ. Effects of communicating DNA-based disease risk estimates on risk-reducing behaviours. Cochrane Database Syst Rev. 2010 Oct 6;(10):CD007275.

Marteijn JA, Lans H, Vermeulen W, Hoeijmakers JH. Understanding nucleotide excision repair and its roles in cancer and ageing. Nature Reviews: Molecular Cell Biology. 2014 Jul 1;15(7):465.

Martin S, Nicaud V, Humphries SE, Talmud PJ. Contribution of APOA5 gene variants to plasma triglyceride determination and to the response to both fat and glucose tolerance challenges. Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease. 2003 Apr 17;1637(3):217-25.

Martin W, Mentel M. The origin of mitochondria. Nature Education. 2010;3(9):58.

Martínez JA, Corbalán MS, Sánchez-Villegas A, Forga L, Marti A, Martínez-González MA. Obesity risk is associated with carbohydrate intake in women carrying the Gln27Glu β2-adrenoceptor polymorphism. The Journal of Nutrition. 2003 Aug 1;133(8):2549-54.

Martínez-Levy GA, Cruz-Fuentes CS. Genetic and epigenetic regulation of the brain-derived neurotrophic factor in the central nervous system. The Yale Journal of Biology and Medicine. 2014;87(2):173-186.

Masuda Y, Hanaoka F, Masutani C. Translesion DNA Synthesis and Damage Tolerance Pathways. In DNA Replication, Recombination, and Repair 2016 (pp. 249-304). Springer Japan.

Martino DJ, Prescott SL. Silent mysteries: epigenetic paradigms could hold the key to conquering the epidemic of allergy and immune disease. Allergy 2010; 65: 7–15.

Mauer L, El-Sohemy A. Prevalence of cilantro (Coriandrum sativum) disliking among different ethnocultural groups. Flavour. 2012;1:8.

Mayank, Jaitak V. Interaction model of steviol glycosides from Stevia rebaudiana (Bertoni) with sweet taste receptors: A computational approach. Phytochemistry. 2015 Aug;116:12-20.

McLeod DS, Cooper DS, Ladenson PW, Whiteman DC, Jordan SJ. Race/ethnicity and the prevalence of thyrotoxicosis in young Americans. Thyroid. 2015 Jun 1;25(6):621-8.

McNulty H, Strain JJ, Hughes CF, Ward M. Riboflavin, MTHFR genotype and blood pressure: A personalized approach to prevention and treatment of hypertension. Mol Aspects Med. 2017 Feb;53:2-9.

Meier U, Gressner O, Lammert F, Gressner AM. Gc-globulin: roles in response to injury. Clinical Chemistry. 2006 Jul 1;52(7):1247-53.

Mekkel G, Barta Z, Ress Z, Gyimesi E, Sipka S, et al. Increased IgE-type antibody response to food allergens in irritable bowel syndrome and inflammatory bowel diseases. Orv Hetill. 2005;146: 797–802.

Melis M, Atzori E, Cabras S, et al. The gustin (CA6) gene polymorphism, rs2274333 (A/G), as a mechanistic link between PROP tasting and fungiform taste papilla density and maintenance. Behrens M, ed. PLoS ONE. 2013;8(9):e74151.

Melis M, Sollai G, Muroni P, Crnjar R, Tomassini Barbarossa I. Associations between orosensory perception of oleic acid, the common single nucleotide polymorphisms (rs1761667 and rs1527483) in the CD36 gene, and 6-n-propylthiouracil (PROP) tasting. Nutrients. 2015 Mar 20;7(3):2068-84.

Memisoglu A et al. Interaction between a peroxisome proliferator-activated receptor gamma gene polymorphism and dietary fat intake in relation to body mass. Hum Mol Genet. 2003;12 (22):2923-9.

Mendez FL, Krahn T, Schrack B, et al. An African American paternal lineage adds an extremely ancient root to the human Y chromosome phylogenetic tree. American Journal of Human Genetics. 2013;92(3):454-459.

Meng S, He ST, Jiang WJ, Xiao L, Li DF, Xu J, Shi XH, Zhang JA.  Genetic susceptibility to autoimmune thyroid diseases in a Chinese Han population: Role of vitamin D receptor gene polymorphisms. Ann Endocrinol (Paris). 2015 Dec;76(6):684-9.

Mennella JA. Ontogeny of taste preferences: basic biology and implications for health. The American journal of clinical nutrition. 2014 Mar 1;99(3):704S-11S.

Mercader JM, Ribasés M, Gratacòs M, González JR, Bayés M, de Cid R, Badía A, Fernández-Aranda F, Estivill X. Altered brain-derived neurotrophic factor blood levels and gene variability are associated with anorexia and bulimia. Genes Brain Behav. 2007 Nov;6(8):706-16.

Mielke MM, Vemuri P, Rocca WA. Clinical epidemiology of Alzheimer’s disease: assessing sex and gender differences. Clin Epidemiol. 2014 Jan 8;6:37-48.

Miljkovic-Gacic I, Bunker CH, Ferrell RE, Kammerer CM, Evans RW, Patrick AL, Kuller LH. Lipoprotein subclass and particle size differences in Afro-Caribbeans, African Americans, and white Americans: associations with hepatic lipase gene variation. Metabolism. 2006 Jan;55(1):96-102.

Mills M, Yang N, Weinberger R, Vander Woude DL, Beggs AH, Easteal S, North K. Differential expression of the actin-binding proteins, alpha-actinin-2 and -3, in different species: implications for the evolution of functional redundancy. Hum Mol Genet. 2001;10(13):1335-46.

Miranda-Vilela AL, Akimoto AK, Lordelo GS, Pereira LC, Grisolia CK, de Nazaré Klautau-Guimarães M. Creatine kinase MM TaqI and methylenetetrahydrofolate reductase C677T and A1298C gene polymorphisms influence exercise-induced C-reactive protein levels. Eur J Appl Physiol. 2012; 112(1):183–192.

Mohammad S, Patel RT, Bruno J, Panhwar MS, Wen J, McGraw TE. A naturally occurring GIP receptor variant undergoes enhanced agonist-induced desensitization, which impairs GIP control of adipose insulin sensitivity. Molecular and Cellular Biology. 2014;34(19):3618-3629.

Mokone GC, Gajjar M, September AV, et al. The guanine–thymine dinucleotide repeat polymorphism within the Tenascin-C gene is associated with Achilles tendon injuries. Am J Sports Med. 2005; 33:1016–1021.

Mokone GG, Schwellnus MP, Noakes TD, Collins M. The COL5A1 gene and Achilles tendon pathology. Scand J Med Sci Sports. 2006 Feb;16(1):19-26.

Mona S, Grunz KE, Brauer S, Pakendorf B, Castrì L, Sudoyo H, et al. Genetic admixture history of Eastern Indonesia as revealed by Y-chromosome and mitochondrial DNA analysis. Molecular Biology and Evolution. 2009 Aug 1;26(8):1865-77.

Monaghan AE, McEwan IJ. A sting in the tail: the N-terminal domain of the androgen receptor as a drug target. Asian Journal of Andrology. 2016 Sep 1;18(5):687.

Monsuur AJ et al. Effective detection of human leukocyte antigen risk alleles in celiac disease using tag single nucleotide polymorphisms. PLoS ONE. 2008;3(5):e2270.

Monteleone P, Bifulco M, Di Filippo C, Gazzerro P, Canestrelli B, Monteleone F, Proto MC, Di Genio M, Grimaldi C, Maj M. Association of CNR1 and FAAH endocannabinoid gene polymorphisms with anorexia nervosa and bulimia nervosa: evidence for synergistic effects. Genes Brain Behav. 2009 Oct;8(7):728-32.

Montgomery HE, Marshall R, Hemingway H, et al. Human gene for physical performance. Nature. 1998;393, 221–222.

Moran CN, Yang N, Bailey ME, Tsiokanos A, et al. Association analysis of the ACTN3 R577X polymorphism and complex quantitative body composition and performance phenotypes in adolescent Greeks. Eur J Hum Genet. 2007;15(1):88-93.

Musso G, Gambino R, De Michieli F, Durazzo M, Pagano G, Cassader M. Adiponectin gene polymorphisms modulate acute adiponectin response to dietary fat: Possible pathogenetic role in NASH. Hepatology. 2008 Apr 1;47(4):1167-77.

Müller TD, Greene BH, Bellodi L, et al. Fat mass and obesity-associated gene (FTO) in eating disorders: evidence for association of the rs9939609 obesity risk allele with bulimia nervosa and anorexia nervosa. Obes Facts. 2012;5(3):408-19.

Mullis KB. The unusual origin of the polymerase chain reaction. Scientific American. 1990 Apr 1;262(4):56-61.

Munn-Chernoff MA, Baker JH. A primer on the genetics of comorbid eating disorders and substance use disorders. Eur Eat Disord Rev. 2016 Mar;24(2):91-100.

Musunuru K, Romaine SPR, Lettre G, et al. Multi-Ethnic Analysis of Lipid-Associated Loci: The NHLBI CARe Project. Federici M, ed. PLoS ONE. 2012;7(5):e36473.

Myhr CB, Hulme MA, Wasserfall CH, Hong PJ, Lakshmi PS, Schatz DA, Haller MJ, Brusko TM, Atkinson MA.  The autoimmune disease-associated SNP rs917997 of IL18RAP controls IFNγ production by PBMC. J Autoimmun. 2013 Aug;44:8-12.

N

Nair S, Lee YH, Rousseau E, Cam M, Tataranni PA, Baier LJ, Bogardus C, Permana PA. Increased expression of inflammation-related genes in cultured preadipocytes/stromal vascular cells from obese compared with non-obese Pima Indians. Diabetologia. 2005 Sep; 48(9):1784-8.

Nakabayashi K, Shirasawa S. Recent advances in the association studies of autoimmune thyroid disease and the functional characterization of AITD-related transcription factor ZFAT. Nihon Rinsho Meneki Gakkai Kaishi. 2010;33(2):66-72.

Nakayama, K, Watanabe K, Boonvisut S, Makishima S, Miyashita H, Iwamoto S. Common variants of GIP are associated with visceral fat accumulation in Japanese adults. American Journal of Physiology – Gastrointestinal and Liver Physiology. 2014 December;07(11): G1108-G1114.

Nath A, Li I, Roberts LR, Chan C. Elevated free fatty acid uptake via CD36 promotes epithelial-mesenchymal transition in hepatocellular carcinoma. Sci Rep. 2015 Oct 1;5:14752.

National Heart, Lung, and Blood Institute. Causes of high blood pressure. United States, 2015.

Negi S, Juyal G, Senapati S, Prasad P, et al. A genome-wide association study reveals ARL15, a novel non-HLA susceptibility gene for rheumatoid arthritis in North Indians. Arthritis Rheum. 2013 Dec;65(12):3026-35.

Ng PC, Murray SS, Levy S, Venter JC. An agenda for personalized medicine. Nature. 2009 Oct 8;461(7265):724-6.

Ngun TC, Vilain E. The biological basis of human sexual orientation: Is there a role for epigenetics. Adv. Genet. 2014 Jan 1;86:167-84.

Niemi and Majamaa Mitochondrial DNA and ACTN3 genotypes in Finnish elite endurance and sprint athletes. Eur J Hum Genet. 2005 13(8):965-9.

Nikitin AG, Sokhatsky MP, Kovaliukh MM, Videiko MY. Comprehensive site chronology and ancient mitochondrial DNA analysis from Verteba Cave: A Trypillian culture site of Eneolithic Ukraine. Interdisciplinaria Archaeologica. 2010;1(1):9-18.

Norhalifah HK, Syaza FH, Chambers GK, Edinur HA. The genetic history of Peninsular Malaysia. Gene. 2016 Jul 15;586(1):129-35.

Ntandou G, Delisle H, Agueh V, Fayomi B. Abdominal obesity explains the positive rural-urban gradient in the prevalence of the metabolic syndrome in Benin, West Africa. Nutrition Research. 2009 Mar 31;29(3):180-9.

O

Ogden CL, Carroll MD, Kit BK, Flegal KM. Prevalence of childhood and adult obesity in the United States, 2011-2012. JAMA. 2014;311(8):806-814.

Ohashi J, Naka I, Kimura R et al. FTO polymorphisms in oceanic populations. J Hum Genet 2007; 52: 1031–1035.

Okafor CI. The metabolic syndrome in Africa: Current trends. Indian Journal of Endocrinology and Metabolism. 2012 Jan 1;16(1):56.

Ou HD, Phan S, Deerinck TJ, Thor A, Ellisman MH, O’Shea CC. ChromEMT: Visualizing 3D chromatin structure and compaction in interphase and mitotic cells. Science. 2017 Jul 28;357(6349).

Özdemir V, Kolker E. Precision nutrition 4.0: A big data and ethics foresight analysis: Convergence of agrigenomics, nutrigenomics, nutriproteomics, and nutrimetabolomics. OMICS. 2016 Feb;20(2):69-75.

P

Panhuysen CIM, Cupples LA, Wilson PW, Herbert AG, Myers RH, Meigs JB. A genome scan for loci linked to quantitative insulin traits in persons without diabetes: the Framingham Offspring Study. Diabetologia. 2003 46:579–587.

Parliament of Canada. Bill S-201, An Act to Prohibit and Prevent Genetic Discrimination. Passed March 8, 2017.

Pascual V, Medrano LM, López-Palacios N, Bodas A, Dema B, Fernández-Arquero M, et al. Different gene expression signatures in children and adults with celiac disease. PLoS ONE. 2016. 11(2): e0146276.

Patel H, Mansuri MS, Singh M, Begum R, Shastri M, Misra A. Association of cytotoxic T-lymphocyte antigen 4 (CTLA4) and thyroglobulin (TG) genetic variants with autoimmune hypothyroidism. Yang M, ed. PLoS ONE. 2016;11(3):e0149441.

Pavanello S, Pesatori AC, Dioni L, Hoxha M, Bollati V, Siwinska E, et al. Shorter telomere length in peripheral blood lymphocytes of workers exposed to polycyclic aromatic hydrocarbons. Carcinogenesis. 2010 Feb 1;31(2):216-21.

Pavlidis C, Lanara Z, Balasopoulou A, Nebel JC, Katsila T, Patrinos GP. Meta-analysis of genes in commercially available nutrigenomic tests denotes lack of association with dietary intake and nutrient-related pathologies. OMICS. 2015 Sep;19(9):512-20.

Pavlidis C, Nebel J-C, Katsila T, Patrinos GP. Nutrigenomics 2.0: The need for ongoing and independent evaluation and synthesis of commercial nutrigenomics tests’ scientific knowledge base for responsible innovation. OMICS : a Journal of Integrative Biology. 2016;20(2):65-68.

Pavlidis C, Patrinos GP, Katsila T. Nutrigenomics: A controversy. Applied & Translational Genomics. 2015;4:50-53.

Pearce LR, Joe R, Doche ME, et al. Functional characterization of obesity-associated variants involving the α and β isoforms of human SH2B1. Endocrinology. 2014;155(9):3219-3226.

Pearson TA, Manolio TA. How to interpret a genome-wide association study. JAMA. 2008 Mar 19;299(11):1335-44.

Pedersen BK, Pedersen M, Krabbe KS, Bruunsgaard H, Matthews VB, Febbraio MA. Role of exercise-induced brain-derived neurotrophic factor production in the regulation of energy homeostasis in mammals. Experimental Physiology. 2009;94: 1153–1160.

Peng MS, He JD, Zhu CL, Wu SF, Jin JQ, Zhang YP. Lactase persistence may have an independent origin in Tibetan populations from Tibet, China. J Hum Genet. 2012 Jun;57(6):394-7.

Pepino MY, Love-Gregory L, Klein S, Abumrad NA. The fatty acid translocase gene CD36 and lingual lipase influence oral sensitivity to fat in obese subjects. Journal of Lipid Research. 2012 March;53 (3): 561–6.

Perkins EA, Landis D, Causey ZL, et al. Association of single nucleotide polymorphisms (SNPs) in CCR6, TAGAP and TNFAIP3 with rheumatoid arthritis in African Americans. Arthritis and Rheumatism. 2012;64(5):1355-1358.

Perrin BJ, Ervasti JM. The actin gene family: Function follows isoform. Cytoskeleton. 2010;67(10):630-634.

Perry GH, Dominy NJ, Claw KG, et al. Diet and the evolution of human amylase gene copy number variation. Nature Genetics. 2007;39(10):1256-1260.

Petr M, Šeda O, Thiel D, et al P-8 Is the AMPD1 polymorphism associated with aerobic performance? Br J Sports Med 2016;50:A35-A36.

Petry CJ, Rayco-Solon P, Fulford AJ, Stead JD, Wingate DL, Ong KK, Sirugo G, Prentice AM, Dunger DB. Common polymorphic variation in the genetically diverse African insulin gene and its association with size at birth. Human Genetics. 2009 Sep 1;126(3):375-84.

Phillips AM. Only a click away—DTC genetics for ancestry, health, love… and more: A view of the business and regulatory landscape. Applied & Translational Genomics. 2016 Mar 31;8:16-22.

Pietilainen KH, Naukkarinen J, Rissanen A, Saharinen J, Ellonen P, Keranen H, et al. Global transcript profiles of fat in monozygotic twins discordant for BMI: pathways behind acquired obesity. PLoS Med. 2008;5(3):e51.

Pilegaard H, Saltin B, Neufer PD. Exercise induces transient transcriptional activation of the PGC‐1α gene in human skeletal muscle. The Journal of Physiology. 2003 Feb 1;546(3):851-8.

Pilz S, Frisch S, Koertke H, Kuhn J, Dreier J, Obermayer-Pietsch B, Wehr E, Zittermann A. Effect of vitamin D supplementation on testosterone levels in men. Hormone and Metabolic Research. 2011 Mar;43(03):223-5.

Pimenta EM, Coelho DB, Cruz IR, Morandi RF, Veneroso CE, de Azambuja Pussieldi G, Carvalho MRS, Silami-Garcia E, Fernández JADP. The ACTN3 genotype in soccer players in response to acute eccentric training. Eur J Appl Physiol. 2012;112(4):1495–1503

Pivovarova O, Hornemann S, Weimer S, Lu Y, Murahovschi V, et al. Regulation of nutrition-associated receptors in blood monocytes of normal weight and obese humans. Peptides. 2015 Mar;65:12-9.

Plagnol V, Howson JMM, Smyth DJ, et al. Genome-wide association analysis of autoantibody positivity in Type 1 diabetes cases. PLoS Genetics. 2011;7(8):e1002216.

Popat S, Hubner R, Houlston RS. Systematic review of microsatellite instability and colorectal cancer prognosis. Journal of Clinical Oncology. 2005 Jan 20;23(3):609-18.

Porter K, Hoey L, Hughes CF, Ward M, McNulty H. Causes, consequences and public health implications of low B-vitamin status in ageing. Nutrients. 2016;8(11):725.

Posthumus M, September AV, Keegan M, O’Cuinneagain D, Van der Merwe W, Schwellnus MP, Collins M. Genetic risk factors for anterior cruciate ligament ruptures: COL1A1 gene variant. British Journal of Sports Medicine. 2009 May 1;43(5):352-6.

Poston WS, Pavlik VN, Hyman DJ, et al. Genetic bottlenecks, perceived racism, and hypertension risk among African Americans and first-generation African immigrants. J Hum Hypertens. 2001 May;15(5):341-51.

Potti A, Dressman HK, Bild A, Riedel RF, Chan G, Sayer R, et al. Genomic signatures to guide the use of chemotherapeutics. Nat Med. 2006 Nov;12(11):1294-300. Article retraction / erratum  Nat Med. 2007 Nov;13(11):1388. Nat Med. 2008 Aug;14(8):889.

Prager M, Durmus T, Büttner J, Molnar T, de Jong DJ, et al. Myosin IXb variants and their pivotal role in maintaining the intestinal barrier: a study in Crohn’s disease. Scand J Gastroenterol. 2014 Oct;49(10):1191-200.

Prakash J, Mittal B, Srivastava A, Awasthi S, Srivastava N. Association of FTO rs9939609 SNP with obesity and obesity-associated phenotypes in a North Indian population. Oman Medical Journal. 2016;31(2):99-106.

Price LH, Kao HT, Burgers DE, Carpenter LL, Tyrka AR. Telomeres and early-life stress: an overview. Biological Psychiatry. 2013 Jan 1;73(1):15-23.

Price RA, Li W-D, Zhao H. FTO gene SNPs associated with extreme obesity in cases, controls and extremely discordant sister pairs. BMC Medical Genetics. 2008;9:4.

Priehodová E, Austerlitz F, Čížková M, Mokhtar MG, Poloni ES, Černý V. The historical spread of Arabian Pastoralists to the eastern African Sahel evidenced by the lactase persistence− 13,915* G allele and mitochondrial DNA. American Journal of Human Biology. 2017 Jan 1.

Pruna R, Artells R, Ribas J, Montoro B, Cos F, Muñoz C, Rodas G, Maffulli N. Single nucleotide polymorphisms associated with non-contact soft tissue injuries in elite professional soccer players Influence on degree of injury and recovery time. BMC Musculoskelet Disord. 2013;14(1):221.

Pujol-Borrell R, Giménez-Barcons M, Marín-Sánchez A, Colobran R. Genetics of Graves’ disease: Special focus on the role of TSHR gene. Horm Metab Res. 2015 Sep;47(10):753-66.

Q

Qi Q, Chu AY, Kang JH, et al. Sugar-sweetened beverages and genetic risk of obesity. The New England Journal of Medicine. 2012;367(15):1387-1396.

Qi, Qibin, Tuomas O. Kilpeläinen, Mary K. Downer, et al. FTO genetic variants, dietary intake and body mass index: insights from 177 330 individuals. Hum Mol Genet 2014; 23 (25): 6961-6972.

Quintana-Murci L, Fellous M. The human Y chromosome: the biological role of a “functional wasteland.” Journal of Biomedicine and Biotechnology. 2001;1(1):18-24.

R

Rader DJ. Monogenic hypercholesterolemia: new insights in pathogenesis and treatment. J. Clin. Invest. 2003; 111(12):1795-803.

Rafiq M, Ianuale C, Ricciardi W, Boccia S. Direct-to-consumer genetic testing: a systematic review of european guidelines, recommendations, and position statements. Genet Test Mol Biomarkers. 2015 Oct;19(10):535-47.

Rajan A, Burris C, Iliff N, Grant M, Eshleman JR, Eberhart CG. DNA mismatch repair defects and microsatellite instability status in periocular sebaceous carcinoma. American Journal of Ophthalmology. 2014 Mar 31;157(3):640-7.

Raleigh SM, van der Merwe L, Ribbans WJ, Smith RK, Schwellnus MP, Collins M. Variants within the MMP3 gene are associated with Achilles tendinopathy: possible interaction with the COL5A1 gene. Br J Sports Med. 2009 Jul;43(7):514-20.

Ramos-Lopez, E., Brück, P., Jansen, T., Herwig, J. and Badenhoop, K. (2007). CYP2R1 (vitamin D 25-hydroxylase) gene is associated with susceptibility to type 1 diabetes and vitamin D levels in Germans. Diabetes Metab. Res. Rev., 23: 631–636.

Ranciaro A, Campbell MC, Hirbo JB, et al. Genetic origins of lactase persistence and the spread of Pastoralism in Africa. American Journal of Human Genetics. 2014;94(4):496-510.

Rask-Andersen M, Almén MS, Lind L, Schiöth HB. Association of the LINGO2-related SNP rs10968576 with body mass in a cohort of elderly Swedes. Mol Genet Genomics. 2015 Aug;290(4):1485-91.

Rask-Andersen M, Sällman Almén M, Jacobsson JA, Ameur A, Moschonis G, Dedoussis G, et al. Determination of obesity associated gene variants related to TMEM18 through ultra-deep targeted re-sequencing in a case-control cohort for pediatric obesity. Genet Res (Camb). 2015 Sep 14;97:e16.

Raz M, Sharon Y, Yerushalmi B, Birk R. Frequency of LCT-13910C/T and LCT-22018G/A single nucleotide polymorphisms associated with adult-type hypolactasia/lactase persistence among Israelis of different ethnic groups. Gene. 2013 Apr 25;519(1):67-70.

Razquin C, Alfredo Martinez J, Martinez-Gonzalez MA, Corella D, Santos JM, Marti A. The Mediterranean diet protects against waist circumference enlargement in 12Ala carriers for the PPARgamma gene: 2 years’ follow-up of 774 subjects at high cardiovascular risk. Br J Nutr. 2009; 102(5):672-9.

Reddon H, Gerstein HC, Engert JC, et al. Physical activity and genetic predisposition to obesity in a multiethnic longitudinal study. Scientific Reports. 2016;6:18672.

Ren D, et al. Neuronal SH2B1 is essential for controlling energy and glucose homeostasis. J. Clin. Invest. 2007;117:397–406.

Ribasés M, Gratacòs M, Armengol L, De Cid R, Badia A, Jimenez L, Solano R, Vallejo J, Fernandez F, Estivill X. Met66 in the brain-derived neurotrophic factor (BDNF) precursor is associated with anorexia nervosa restrictive type. Molec. Psychiat. 2003;8:745-751.

Ribasés M, Gratacòs M, Fernández-Aranda F, Bellodi L, Boni C, Anderluh M, et al. Association of BDNF with anorexia, bulimia and age of onset of weight loss in six European populations. Hum. Molec. Genet. 2004;13:1205-1212.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genetics in Medicine. 2015 Mar 5;17(5):405-23.

Rico-Sanz J, Rankinen T, Joanisse DR, Leon AS, Skinner JS, Wilmore JH, Rao DC, Bouchard C. Associations between cardiorespiratory responses to exercise and the C34T AMPD1 gene polymorphism in the HERITAGE Family Study. Physiological Genomics. 2003 Jul 7;14(2):161-6.

Rioux et al. Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis. Nat Genet. 2007. 39(5):596-604.

Rissanen A, Hakala P, Lissner L, Mattlar CE, Koskenvuo M, Rönnemaa T. Acquired preference especially for dietary fat and obesity: a study of weight-discordant monozygotic twin pairs. Int J Obes Relat Metab Disord. 2002 Jul;26(7):973-7.

Rivera MA, Dionne FT, Wolfarth B, Chagnon MO, Simoneau JA, Pérusse LO, Boulay MR, Gagnon J, Song TM, Keul J, Bouchard C. Muscle-specific creatine kinase gene polymorphisms in elite endurance athletes and sedentary controls. Medicine and Science in Sports and Exercise. 1997 Nov;29(11):1444-7.

Roberts JS, Ostergren J. Direct-to-Consumer Genetic Testing and Personal Genomics Services: A Review of Recent Empirical Studies. Current genetic medicine reports. 2013;1(3):182-200.

Rodrigo, L., Hernández-Lahoz, C., Lauret, E. et al. Gluten ataxia is better classified as non-celiac gluten sensitivity than as celiac disease: a comparative clinical study. Immunol Res. 2016;64: 558.

Romanos J, van Diemen CC, Nolte IM, Trynka G, Zhernakova A, Fu J, et al. Analysis of HLA and non-HLA alleles can identify individuals at high risk for celiac disease. Gastroenterology. 2009;137(3):834–40. 840 e1-3.

Rose, NR. Prediction and prevention of autoimmune disease in the 21st century: A review and preview. Am J Epidemiol 2016; 183 (5): 403-406.

Rosen, CJ, Ingelfinger JR. Unraveling the function of FTO variants. N Engl J Med 2015; 373:964-965. September 3, 2015.

Roth SM, Rankinen T, Hagberg JM, et al. Advances in exercise, fitness, and performance genomics in 2011. Medicine and Science in Sports and Exercise. 2012;44(5):809-817.

Rothman SM, Griffioen KJ, Wan R, Mattson MP. Brain-derived neurotrophic factor as a regulator of systemic and brain energy metabolism and cardiovascular health. Annals of the New York Academy of Sciences. 2012;1264(1):49-63.

Rottensteiner M, Leskinen T, Niskanen E, Aaltonen S, Mutikainen S, Wikgren J, Heikkilä K, Kovanen V, Kainulainen H, Kaprio J, Tarkka IM, Kujala UM. Physical activity, fitness, glucose homeostasis, and brain morphology in twins. Med Sci Sports Exerc. 2015 Mar;47(3):509-18.

Ruchat S-M, Rankinen T, Weisnagel SJ, et al. Improvements in glucose homeostasis in response to regular exercise are influenced by PPARG Pro12Ala variant: results from the HERITAGE Family Study. Diabetologia. 2010;53(4):679-689.

Ruiz JR, Gómez-Gallego F, Santiago C, et al. Is there an optimum endurance polygenic profile? The Journal of Physiology. 2009;587(Pt 7):1527-1534.

S

Sale JE. Translesion DNA synthesis and mutagenesis in eukaryotes. Cold Spring Harbor perspectives in biology. 2013 Mar 1;5(3):a012708.

Salem M, Ammitzboell M, Nys K, Seidelin JB, Nielsen OH. ATG16L1: A multifunctional susceptibility factor in Crohn disease. Autophagy. 2015;11(4):585-594.

Salipante SJ, Scroggins SM, Hampel HL, Turner EH, Pritchard CC. Microsatellite instability detection by next generation sequencing. Clinical Chemistry. 2014 Sep 1;60(9):1192-9.

Salvati VM, MacDonald TT, Bajaj-Elliott M, et al. Interleukin 18 and associated markers of T helper cell type 1 activity in coeliac disease. Gut. 2002;50(2):186-190.

Sánchez-Moreno C, Ordovás JM, Smith CE, Baraza JC, Lee YC, Garaulet M. APOA5 gene variation interacts with dietary fat intake to modulate obesity and circulating triglycerides in a Mediterranean population. The Journal of Nutrition. 2011 Mar 1;141(3):380-5.

Sanders AR, Martin ER, Beecham GW, Guo S, Dawood K, Rieger G, et al. Genome-wide scan demonstrates significant linkage for male sexual orientation. Psychological Medicine. 2015 May;45(7):1379-88.

Sandholt CH, et al. Studies of metabolic phenotypic correlates of 15 obesity associated gene variants. PLoS One. 2011; 6(9):e23531.

Santer R, Rischewski J, von Weihe M, Niederhaus M, Schneppenheim S, Baerlocher K, et al. The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe. Hum. Mutat. 2005;25(6):594.

Santiago C, González-Freire M, Serratosa L, Morate FJ, Meyer T, Gómez-Gallego F, Lucia A. ACTN3 genotype in professional soccer players. Br J Sports Med. 2008;42(1):71-3.

Saunders CJ, van der Merwe L, Posthumus M, Cook J, Handley CJ, Collins M, September AV. Investigation of variants within the COL27A1 and TNC genes and Achilles tendinopathy in two populations. J. Orthop. Res. 2013; 31: 632–637.

Saxena R, Voight BF, Lyssenko V, Burtt NP, de Bakker PI, Chen, H, et al. Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels. Science. 2007; 316:1331–1336.

Schaefer EJ, Tsunoda F, Diffenderfer M, Polisecki E, Thai N, Asztalos B. The measurement of lipids, lipoproteins, apolipoproteins, fatty acids, and sterols, and next generation sequencing for the diagnosis and treatment of lipid disorders. Ed. De Groot LJ, Chrousos G, Dungan K, et al.,. South Dartmouth (MA): MDText.com, Inc.; 2016.

Schenkman, Lauren. Japanese guts are made for sushi. Science. 2010 Apr. 7.

Scherag S, Hebebrand J, Hinney A. Eating disorders: the current status of molecular genetic research. European Child & Adolescent Psychiatry. 2010;19(3):211-226.

Schwartz M, Vissing J. Paternal inheritance of mitochondrial DNA. New England Journal of Medicine. 2002;347 (8): 576–80.

Schwarz NA, McKinley SK, Spillane M, Gann JJ, Andre TL, Willoughby DS. Effect of Resistance Exercise Intensity on the mRNA Expression of PGC-1α Isoforms in Human Skeletal Muscle. International Journal of Exercise Science: Conference Proceedings 2014;2(6):2.

Scott LJ, Mohlke KL, Bonnycastle LL, Willer CJ, Li Y, Duren WL, et al. A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants. Science. 2007; 316(5829):1341-5.

Scuteri A, Sanna S, Chen WM, Uda M, Albai G, Strait J, et al. Genome-wide association scan shows genetic variants in the FTO gene are associated with obesity-related traits. PLoS Genet 3(7):e115.

Seip RL, Zoeller RF, Angelopoulos TJ, et al. Interactive effects of APOE haplotype, sex, and exercise on postheparin plasma lipase activities. Journal of Applied Physiology. 2011;110(4):1021-1028.

Seim I, Amorim L, Walpole C, Carter S, Chopin LK, Herington, AC. Ghrelin gene-related peptides: Multifunctional endocrine / autocrine modulators in health and disease. Clinical and Experimental Pharmacology and Physiology. 2010;37: 125–131.

Senapati S, Sood A, Midha V, Sood N, Sharma S, Kumar L, Thelma BK. Shared and unique common genetic determinants between pediatric and adult celiac disease. BMC Medical Genomics. 2016 Jul 22;9(1):44.

September AV, Cook J, Handley CJ, van der Merwe L, Schwellnus MP, Collins M. Variants within the COL5A1 gene are associated with Achilles tendinopathy in two populations. Br J Sports Med. 2009 May;43(5):357-65.

Šerý O, Janoutová J, Ewerlingová L, Hálová A, Lochman J, Janout V, Khan NA, Balcar VJ. CD36 gene polymorphism is associated with Alzheimer’s disease. Biochimie. 2017 Apr;135:46-53.

Shahid A, Rana S, Saeed S, Imran M, Afzal N, Mahmood S. Common variant of FTO gene, rs9939609, and obesity in Pakistani females. BioMed Research International. 2013 Sep 2.

Shiwaku K, Nogi A, Anuurad E, Kitajima K, Enkhmaa B, Shimono K, Yamane Y. Difficulty in losing weight by behavioral intervention for women with Trp64Arg polymorphism of the beta3-adrenergic receptor gene. Int J Obes Relat Metab Disord. 2003; 27(9):1028-36.

Shugart YY, Chen L, Day INM, et al. Two British women studies replicated the association between the Val66Met polymorphism in the brain-derived neurotrophic factor (BDNF) and BMI. European Journal of Human Genetics. 2009;17(8):1050-1055.

Sicherer SH, Sampson HA. Food allergy: epidemiology, pathogenesis, diagnosis, and treatment. Journal of Allergy and Clinical Immunology. 2014 Feb 28;133(2):291-307.

Sini S, Deepa D, Harikrishnan S, Jayakumari N. High-density lipoprotein from subjects with coronary artery disease promotes macrophage foam cell formation: role of scavenger receptor CD36 and ERK/MAPK signaling. Mol Cell Biochem. 2017 Mar;427(1-2):23-34.

Sinicrope FA. The role of microsatellite instability testing in management of colorectal cancer. Clinical advances in Hematology & Oncology: H&O. 2016 Jul;14(7):476.

Sladek R, Rocheleau G, Rung J, Dina C, Shen L, et al. A genome-wide association study identifies novel risk loci for type 2 diabetes. Nature. 2007;445:828–830.

Sleegers K, Bettens K, Brouwers N, Engelborghs S, van Miegroet H, et al. Common variation in GRB-associated Binding Protein 2 (GAB2) and increased risk for Alzheimer dementia. Hum Mutat. 2009 Feb;30(2):E338-44.

Slomko H, Heo HJ, Einstein FH. Minireview: Epigenetics of Obesity and Diabetes in Humans. Endocrinology 2012; 153 (3): 1025-1030.

Smith CE, Tucker KL, Yiannakouris N, et al. Perilipin polymorphism interacts with dietary carbohydrates to modulate anthropometric traits in Hispanics of Caribbean origin, The Journal of Nutrition. 2008;138(10):1852-1858.

Sobczyk-Kopciol, A., G. Broda, M. Wojnar, P. Kurjata, A. Jakubczyk, A. Klimkiewicz, R. Ploski. Inverse association of the obesity predisposing FTO rs9939609 genotype with alcohol consumption and risk for alcohol dependence. Addiction. 2011;106:739–748.

Soini S. Genetic testing legislation in Western Europe—a fluctuating regulatory target. Journal of Community Genetics. 2012;3(2):143-153.

Solakivi T, Kunnas T, Nikkari ST. Contribution of fatty acid transporter (CD36) genetic variant rs1761667 to body mass index, the TAMRISK study. Scand J Clin Lab Invest. 2015 May;75(3):254-8.

Song S-H, Chiba K, Ramasamy R, Lamb DJ. Recent advances in the genetics of testicular failure. Asian Journal of Andrology. 2016;18(3):350-355.

Speakman JR. Functional analysis of seven genes linked to body mass index and adiposity by genome-wide association studies: a review. Hum Hered. 2013;75(2-4):57-79.

Speeckaert M, Huang G, Delanghe JR, Taes YE. Biological and clinical aspects of the vitamin D binding protein (Gc-globulin) and its polymorphism. Clinica Chimica Acta. 2006 Oct 31;372(1):33-42.

Speliotes EK, Willer CJ, Berndt SI, et al. Association analyses of 249,796 individuals reveal eighteen new loci associated with body mass index. Nature Genetics. 2010;42(11):937-948.

Spielman RS, Fajans SS, Neel JV, Pek S, Floyd JC, Oliver WJ. Glucose tolerance in two unacculturated Indian tribes of Brazil. Diabetologia. 1982 Aug;23(2):90-3.

Sprouse C, Gordish-Dressman H, Orkunoglu-Suer EF, Lipof JS, Moeckel-Cole S, Patel RR, et al. SLC30A8 nonsynonymous variant is associated with recovery following exercise and skeletal muscle size and strength. Diabetes. 2014; 63(1):363–368.

Sprouse C, Tosi LL, Gordish-Dressman H, Abdel-Ghani MS, Panchapakesan K, Niederberger B, et al. CK-MM polymorphism is associated with physical fitness test scores in military recruits. Military Medicine. 2015 Sep;180(9):1001-5.

Stępien-Słodkowska M, Ficek K, Eider J, Leońska-Duniec A, Maciejewska-Karłowska A, Sawczuk M, et al. The+ 1245G/T polymorphisms in the collagen type I alpha 1 (COL1A1) gene in Polish skiers with anterior cruciate ligament injury. Biology of Sport. 2013 Mar;30(1):57.

Stone JH. IgG4-related disease: Pathophysiologic insights drive emerging treatment approaches. Clin Exp Rheumatol. 2016 Jul-Aug;34(4 Suppl 98):66-8.

Straub L, Wolfrum C. FGF21, energy expenditure and weight loss – How much brown fat do you need? Molecular Metabolism. 2015;4(9):605-609.

Sun L, He C, Nair L, Yeung J, Egwuagu CE. Interleukin 12 (IL-12) family cytokines: Role in immune pathogenesis and treatment of CNS autoimmune disease. Cytokine. 2015;75(2):249-255.

Sun PH, Ye L, Mason MD, Jiang WG. Protein tyrosine phosphatase kappa (PTPRK) is a negative regulator of adhesion and invasion of breast cancer cells, and associates with poor prognosis of breast cancer. J Cancer Res Clin Oncol. 2013 Jul;139(7):1129-39.

T

Tada H, Won H-H, Melander O, Yang J, Peloso GM, Kathiresan S. Multiple associated variants increase the heritability explained for plasma lipids and coronary artery disease. Circulation Cardiovascular Genetics. 2014;7(5):583-587.

Takano K, Yamamoto M, Takahashi H, Himi T. Recent advances in knowledge regarding the head and neck manifestations of IgG4-related disease. Auris Nasus Larynx. 2017 Feb;44(1):7-17.

Tang L, Ye H, Hong Q, et al. Meta-analyses between 18 candidate genetic markers and overweight/obesity. Diagnostic Pathology. 2014;9:56.

Tanofsky-Kraff M, Han JC, Anandalingam K, Shomaker LB, et al. The FTO gene rs9939609 obesity-risk allele and loss of control over eating. Am J Clin Nutr. 2009;90:1483–1488.

Teran-Garcia M, Santoro N, Rankinen T, Bergeron J, et al. Hepatic lipase gene variant -514C>T is associated with lipoprotein and insulin sensitivity response to regular exercise: the HERITAGE Family Study. Diabetes. 2005;54(7):2251-5.

Teutsch SM, Bradley LA, Palomaki GE, Haddow JE, et al. The evaluation of genomic applications in practice and prevention (EGAPP) initiative: methods of the EGAPP working group. Genetics in Medicine. 2009 Jan 1;11(1):3-14.

The International Multiple Sclerosis Genetics Consortium (IMSGC). IL12A, MPHOSPH9/CDK2AP1 and RGS1 are novel multiple sclerosis susceptibility loci. Genes and Immunity. 2010;11(5):397-405.

Thorleifsson G, Walters GB, Gudbjartsson DF, et al. Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity. Nat Genet. 2009 Jan;41(1):18-24.

Thornton LM, Mazzeo SE, Bulik CM. The heritability of eating disorders: Methods and current findings. Current Topics in Behavioral Neurosciences. 2011;6:141-156.

Tian O, Josse AR, Borchers C, El-Sohemy A. Association between caffeine intake and the plasma proteome in humans. Journal of Caffeine Research. 2013 Dec 1;3(4):175-81.

Tian X, Patel K, Ridpath JR, Chen Y, Zhou Y-H, Neo D, et al. Homologous Recombination and Translesion DNA Synthesis Play Critical Roles on Tolerating DNA Damage Caused by Trace Levels of Hexavalent Chromium. PLoS ONE. 2016; 11(12): e0167503.

Timpson NJ, Emmett PM, Frayling TM, Rogers I, Hattersley AT, et al. The fat mass- and obesity-associated locus and dietary intake in children. Am J Clin Nutr. 2008; 88: 971–978.

Tishkoff SA, Reed FA, Ranciaro A, Voight BF, Babbitt CC, et al. Convergent adaptation of human lactase persistence in Africa and Europe. Nature Genetics. 2007 Jan 1;39(1):31-40.

Tizaoui K, Kaabachi W, Hamzaoui A, Hamzaoui K. Association between vitamin D receptor polymorphisms and multiple sclerosis: systematic review and meta-analysis of case–control studies. Cellular and Molecular Immunology. 2015;12(2):243-252. doi:10.1038/cmi.2014.47.

Tokoro F, Matsuoka R, Abe S, et al. Association of a genetic variant of the ZPR1 zinc finger gene with type 2 diabetes mellitus. Biomedical Reports. 2015;3(1):88-92.

Tomer Y, Huber A. The etiology of autoimmune thyroid disease: A story of genes and environment. Journal of Autoimmunity. 2009;32(3-4):231-239.

Toss A, Tomasello C, Razzaboni E, et al. Hereditary ovarian cancer: Not only BRCA 1 and 2 genes. BioMed Research International. 2015;2015:341723.

Trace SE, Baker JH, Peñas-Lledó E, Bulik CM. The genetics of eating disorders. Annu Rev Clin Psychol. 2013;9:589-620.

Trivedi, Bijal P. Neuroscience: Hardwired for taste. Nature. 2012 June;486, S7–S9.

Tsai PC, Van Dongen J, Tan Q, Willemsen G, Christiansen L, Boomsma DI, et al. DNA methylation changes in the IGF1R gene in birth weight discordant adult monozygotic twins. Twin Res Hum Genet. 2015 Dec;18(6):635-46.

Tucker KL, Smith CE, Lai C-Q, Ordovas JM. Quantifying diet for nutrigenomic studies. Ann Rev Nutr. 2013;33:349-371.

Tybjaerg-Hansen A, Steffensen R, Meinertz H, Schnohr P, Nordestgaard BG. Association of mutations in the apolipoprotein B gene with hypercholesterolemia and the risk of ischemic heart disease. N. Engl. J. Med. 1998;338(22):1577-84.

Tybjaerg-Hansen A, Humphries SE. Familial defective apolipoprotein B-100: a single mutation that causes hypercholesterolemia and premature coronary artery disease. Atherosclerosis. 1992;96(2-3):91-107.

U

Ueyama C, Horibe H, Yamase Y, et al. Association of FURIN and ZPR1 polymorphisms with metabolic syndrome. Biomedical Reports. 2015;3(5):641-647.

Ujike H, Otani K, Nakatsuka M, Ishii K, Sasaki A, et al. Association study of gender identity disorder and sex hormone-related genes. Prog Neuropsychopharmacol Biol Psychiatry. 2009 Oct 1;33(7):1241-4.

United Kingdom. Equality Act. 2010.

Urwin, R. E., Nunn, K. P. Epistatic interaction between the monoamine oxidase A and serotonin transporter genes in anorexia nervosa. Europ. J. Hum. Genet. 13: 370-375, 2005.

U.S. Census, Profile of General Population and Housing Characteristics: 2010 Demographic Profile Data.

U.S. National Institute of Health (NIH). An overview of the Human Genome Project: A brief history of the Human Genome Project. November 8, 2012.

U.S. National Institute of Health (NIH) and National Library of Medicine (NLM). Genetics Home Reference.

U.S. System of Oversight of Genetic Testing. A response to the charge of the secretary of health and human services. Report of the Secretary’ Advisory Committee on Genetics, Health, and Society. April, 2008. Department of Health and Human Services.

Usher CL et al. Structural forms of the human amylase locus and their relationship to SNPs, haplotypes and obesity. Nature Gen. 47(8): 921- 9. 2015.

V

Vallender EJ, Lahn BT Positive selection on the human genome. Hum Mol Genet 2004; 13 (suppl_2): R245-R254.

van der Hoeven F, Schimmang T, Volkmann A, Mattei MG, Kyewski B, Ruther U. Programmed cell death is affected in the novel mouse mutant Fused toes (Ft). Development. 1994 Sep 1;120(9):2601-7.

Van Heel DA, Franke L, Hunt KA, et al. A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21. Nature genetics. 2007;39(7):827-829.

Van Oven M, Brauer S, Choi Y, Ensing J, Schiefenhövel W, Stoneking M, Kayser M. Human genetics of the Kula Ring: Y-chromosome and mitochondrial DNA variation in the Massim of Papua New Guinea. European Journal of Human Genetics. 2014 Dec 1;22(12):1393-403.

Vanderpump MP, Tunbridge WM. Epidemiology and prevention of clinical and subclinical hypothyroidism. Thyroid. 2002 Oct 1;12(10):839-47.

Vaquero AR, Ferreira NE, Omae SV, Rodrigues MV, Teixeira SK, Krieger JE, Pereira AC. Using gene-network landscape to dissect genotype effects of TCF7L2 genetic variant on diabetes and cardiovascular risk. Physiol. Genomics. 2012;44 (19): 903–14.

Varahram M, Farnia P, Anoosheh S et al. The VDR and TNF-α gene polymorphisms in Iranian tuberculosis patients: the study on host susceptibility. Iran J Clin Infect Dis 2009;4:207–13.

Varol C, Zvibel I, Spektor L, Mantelmacher FD, Vugman M, Thurm T, Khatib M, Elmaliah E, Halpern Z, Fishman S. Long-acting glucose-dependent insulinotropic polypeptide ameliorates obesity-induced adipose tissue inflammation. J Immunol. 2014 Oct 15;193(8):4002-9.

Varret M. Genetic heterogeneity of autosomal dominant hypercholesterolemia. Clin. Genet. 2008;73(1):1-13.

Vasan RS, Larson MG, Aragam J, et al. Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study. BMC Medical Genetics. 2007;8(Suppl 1):S2.

Velders, F.P., J.E. De Wit, P.W. Jansen, V.W.V. Jaddoe, A. Hofman, F.C. Verhulst, H. Tiemeier. FTO at rs9939609, food responsiveness, emotional control and symptoms of ADHD in preschool children. PLoS ONE, 7 (2012), p. e49131.

Venckunas T, Skurvydas A, Brazaitis M, Kamandulis S, Snieckus A, Moran CN. Human alpha-actinin-3 genotype association with exercise-induced muscle damage and the repeated-bout effect. Appl Physiol Nutr Metab. 2012 Dec;37(6):1038-46.

Vernot B, Akey JM. Complex history of admixture between modern humans and Neandertals. The American Journal of Human Genetics. 2015 Mar 5;96(3):448-53.

Vilà-Brau A, De Sousa-Coelho AL, Mayordomo C, Haro D, Marrero PF. Human HMGCS2 regulates mitochondrial fatty acid oxidation and FGF21 expression in HepG2 cell line. The Journal of Biological Chemistry. 2011;286(23):20423-20430.

Villalobos-Comparán M, Flores-Dorantes MT, Villarreal-Molina MT, et al. The FTO gene is associated with adulthood obesity in the Mexican population. Obesity. 2008;16: 2296–2301.

Vimaleswaran KS, Li S, Zhao JH, Luan JA, Bingham SA, Khaw KT, et al. Physical activity attenuates the body mass index–increasing influence of genetic variation in the FTO gene. The American Journal of Clinical Nutrition. 2009 Aug 1;90(2):425-8.

Vincent B, Windelinckx A, Nielens H, Ramaekers M, Van Leemputte M, Hespel P, Thomis MA. Protective role of α-actinin-3 in the response to an acute eccentric exercise bout. Journal of applied Physiology. 2010 Aug 1;109(2):564-73.

Vincent B, De Bock K, Ramaekers M, Van den Eede E, Van Leemputte M, Hespel P, Thomis MA. The ACTN3 (R577X) genotype is associated with fiber type distribution. Physiol Genomics. 2007;32(1):58-63.

Volckmar A-L, Han CT, Pütter C, et al. Analysis of genes involved in body weight regulation by targeted re-sequencing. PLoS ONE. 2016;11(2):e0147904.

W

Wagh K, Bhatia A, Alexe G, et al. Lactase persistence and lipid pathway selection in the Maasai. Johnson N, ed. PLoS ONE. 2012;7(9):e44751.

Waggott D, Mattsson CM, Wheeler M, Ashley EA. The genomics of extreme athletes. The ELITE Study (Exercise at the Limit-Inherited Traits of Endurance). The American Society of Human Genetics (ASHG) annual meeting 2016.

Wåhlén K, Sjölin E, Hoffstedt J. The common rs9939609 gene variant of the fat mass- and obesity-associated gene FTO is related to fat cell lipolysis. J. Lipid Res. 2008;49(3):607-11.

Walia GK, Gupta V, Aggarwal A, et al. Association of common genetic variants with lipid traits in the Indian population. Prokunina-Olsson L, ed. PLoS ONE. 2014;9(7):e101688.

Walley AJ, Jacobson P, Falchi M, et al. Differential co-expression analysis of obesity-associated networks in human subcutaneous adipose tissue. International Journal of Obesity 2012;36(1):137-147.

Walters RG, Jacquemont S, Valsesia A, et al. A novel highly-penetrant form of obesity due to microdeletions on chromosome 16p11.2. Nature. 2010;463(7281):671-675.

Wang CY, Wang ZY, Xie JW, Cai JH, Wang T, Xu Y, Wang X, An L. CD36 upregulation mediated by intranasal LV-NRF2 treatment mitigates hypoxia-induced progression of Alzheimer’s-like pathogenesis. Antioxid Redox Signal. 2014 Dec 1;21(16):2208-30.

Wang G, Mikami E, Chiu LL, Deason M, Fuku N, Miyachi M, Kaneoka K, Murakami H, Tanaka M, Hsieh LL, Hsieh SS. Association analysis of ACE and ACTN3 in elite Caucasian and East Asian swimmers. Medicine and science in sports and exercise. 2013;45(5):892-900.

Wang LQ, Wang TY, Sun QL, Qie YQ. Correlation between thyroglobulin gene polymorphisms and autoimmune thyroid disease. Mol Med Rep. 2015 Sep;12(3):4469-75.

Wang T, Bengtsson G, Kärnefelt I, Björn LO. Provitamins and vitamins D₂and D₃in Cladina spp. over a latitudinal gradient: possible correlation with UV levels. J Photochem Photobiol B. 2001 Sep 1;62(1-2):118-22.

Wang TJ, Zhang F, Richards JB, et al. Common genetic determinants of vitamin D insufficiency: a genome-wide association study. Lancet. 2010;376(9736):180-188.

Wang X, Huang N, Yang M, Wei D, Tai H, Han X, et al. FTO is required for myogenesis by positively regulating mTOR-PGC-1α pathway-mediated mitochondria biogenesis. Cell Death & Disease. 2017 Mar;8(3):e2702.

Wang Z, Li Z, Gao K, Fang Y. Association between brain-derived neurotrophic factor genetic polymorphism Val66Met and susceptibility to bipolar disorder: a meta-analysis. BMC Psychiatry. 2014 Dec 24;14:366.

Wardle J, Carnell S, Haworth CMA, Farooqi IS, O’Rahilly S, Plomin R. Obesity associated genetic variation in FTO is associated with diminished satiety. J Clin Endocrinol Metab. 2008;93:3640–3643.

Waterworth DM, Ricketts SL, Song K, et al. Genetic variants influencing circulating lipid levels and risk of coronary artery disease. Arteriosclerosis, thrombosis, and vascular biology. 2010;30(11):2264-2276.

Watkins WS, Rogers AR, Ostler CT, et al. Genetic variation among world populations: Inferences from 100 Alu insertion polymorphisms. Genome Research. 2003;13(7):1607-1618.

Webb GJ, Hirschfield GM. Using GWAS to identify genetic predisposition in hepatic autoimmunity. J Autoimmun. 2016 Jan;66:25-39.

Webborn N, Williams A, McNamee M, et al. Direct-to-consumer genetic testing for predicting sports performance and talent identification: Consensus statement. Br J Sports Med 2015;49:1486-1491.

Wei W, Ayub Q, Chen Y, et al. A calibrated human Y-chromosomal phylogeny based on resequencing. Genome Research. 2013;23(2):388-395.

Wehr E, Pilz S, Boehm BO, März W, Obermayer‐Pietsch B. Association of vitamin D status with serum androgen levels in men. Clinical Endocrinology. 2010 Aug 1;73(2):243-8.

Wellcome Trust Case Control Consortium . Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature. 2007;447(7145):661-78.

Wen W, Cho YS, Zheng W, et al. Meta-analysis identifies common variants associated with body mass index in East Asians. Nature Genetics. 2012;44(3):307-311.

Wetterstrand, Kris. DNA sequencing costs: Data from the NHGRI Genome Sequencing Program (GSP). National Human Genome Research Institute.

Wild CP. Complementing the genome with an “exposome”: the outstanding challenge of environmental exposure measurement in molecular epidemiology. Cancer Epidemiology, Biomarkers and Prevention. 2005 August;14 (8).

Willer CJ, Schmidt EM, Sengupta S, et al. Discovery and refinement of loci associated with lipid levels. Nature Genetics. 2013;45(11):1274-1283.

Willer CJ, Speliotes EK, Loos RJF, et al. Six new loci associated with body mass index highlight a neuronal influence on body weight regulation. Nature Genetics. 2009;41(1):25-34.

Wilson TW, Grim CE. Biohistory of slavery and blood pressure differences in blacks today. A hypothesis. Hypertension. 1991 Jan;17(1 Suppl):I122-8.

Wing MR, Ziegler J, Langefeld CD, et al. Analysis of FTO gene variants with measures of obesity and glucose homeostasis in the IRAS family study. Human Genetics. 2009;125(5-6):615-626.

Winter Y, Sankowski R, Back T. Genetic determinants of obesity and related vascular diseases. Vitam Horm. 2013;91:29-48.

Witas HW, Płoszaj T, Jędrychowska-Dańska K, et al. Hunting for the LCT-13910*T allele between the Middle Neolithic and the Middle Ages suggests its absence in dairying LBK people entering the Kuyavia Region in the 8th Millennium BP. Palsson A, ed. PLoS ONE. 2015;10(4):e0122384.

Wooding S. Phenylthiocarbamide: A 75-year adventure in genetics and natural selection. Genetics. 2006;172(4):2015-23.

Workman AD, Palmer JN, Adappa ND, Cohen NA. The role of bitter and sweet taste receptors in upper airway immunity. Current Allergy and Asthma Reports. 2015;15(12):72.

Wu F, Zhang W, Zhang L, et al. NRAMP1, VDR, HLA-DRB1, and HLA-DQB1 gene polymorphisms in susceptibility to tuberculosis among the Chinese Kazakh population: A case-control study. BioMed Research International. 2013;2013:484535.

Wu Y, Waite LL, Jackson AU, et al. Trans-ethnic fine-mapping of lipid loci identifies population-specific signals and allelic heterogeneity that increases the trait variance explained. Gibson G, ed. PLoS Genetics. 2013;9(3):e1003379.

Wu YL, Hu CY, Lu SS, Gong FF, Feng F, Qian ZZ, Ding XX, Yang HY, Sun YH. Association between methylenetetrahydrofolate reductase (MTHFR) C677T/A1298C polymorphisms and essential hypertension: a systematic review and meta-analysis. Metabolism. 2014 Dec;63(12):1503-11.

X

Xavier RJ, Huett A, Rioux JD. Autophagy as an important process in gut homeostasis and Crohn’s disease pathogenesis. Gut. 2008 Jun;57(6):717-20.

Xiao L, Muhali F-S, Cai T, et al. Association of single-nucleotide polymorphisms in the STAT3 gene with autoimmune thyroid disease in Chinese individuals. Functional & Integrative Genomics. 2013;13(4):455-461.

Xu B, Xie X. Neurotrophic factor control of satiety and body weight. Nat Rev Neurosci. 2016 May;17(5):282-92.

Xue L, Pan C, Gu Z, et al. Genetic heterogeneity of susceptibility gene in different ethnic populations: refining association study of PTPN22 for Graves’ disease in a Chinese Han population. PLoS ONE. 2013;8(12):e84514.

Y

Yamin C, Amir O, Sagiv M, Attias E, Meckel Y, Eynon N, Sagiv M, Amir RE. ACE ID genotype affects blood creatine kinase response to eccentric exercise. Journal of Applied Physiology. 2007 Dec 1;103(6):2057-61.

Yamin C, Oliveira J, Meckel Y, Eynon N, Sagiv M, Ayalon M, Alves AJ, Duarte JA. CK-MM gene polymorphism does not influence the blood CK activity levels after exhaustive eccentric exercise. International Journal of Sports Medicine. 2010 Mar;31(03):213-7.

Yang KC . LDLR and ApoB are major genetic causes of autosomal dominant hypercholesterolemia in a Taiwanese population. J. Formos. Med. Assoc. 2007;106(10):799-807.

Yang N, MacArthur DG, Gulbin JP, et al. ACTN3 genotype is associated with human elite athletic performance. American Journal of Human Genetics. 2003;73(3):627-631.

Yilmaz Z, Kaplan AS, Tiwari AK, et al. The role of leptin, melanocortin, and neurotrophin system genes on body weight in anorexia nervosa and bulimia nervosa. Journal of Psychiatric Research. 2014;55:77-86.

Yu F, Cui LL, Li X, Wang CJ, Ba Y, Wang L, et al. The genetic polymorphisms in vitamin D receptor and the risk of type 2 diabetes mellitus: an updated meta-analysis. Asia Pac J Clin Nutr. 2016;25(3):614-24.

Yu N, Chen FC, Ota S, Jorde LB, Pamilo P, Patthy L, et al. Larger genetic differences within Africans than between Africans and Eurasians. Genetics. 2002 May 1;161(1):269-74.

Z

Zadro JR, Shirley D, Andrade TB, Scurrah KJ, Bauman A, Ferreira PH. The beneficial effects of physical activity: Is it down to your genes? A systematic review and meta-analysis of twin and family studies. Sports Medicine – Open. 2017;3:4.

Zemski AJ, Slater GJ, Broad EM. Body composition characteristics of elite Australian rugby union athletes according to playing position and ethnicity. Journal of sports sciences. 2015 May 28;33(9):970-8.

Zerjal T, Xue Y, Bertorelle G, Wells RS, Bao W, Zhu S, et al. The genetic legacy of the Mongols. The American Journal of Human Genetics. 2003 Mar 31;72(3):717-21.

Zhang X, Lin S, Funk WE, Hou L. Republished: Environmental and occupational exposure to chemicals and telomere length in human studies. Postgraduate Medical Journal. 2013 Dec 1;89(1058):722-8.

Zhao B, Zhang W, Du S, Zhou Z. Vitamin D receptor BsmI polymorphism and osteoporosis risk in post-menopausal women. Archives of Medical Science : AMS. 2016;12(1):25-30.

Zhao J, Bradfield JP, Zhang H, Sleiman PM, Kim CE, Glessner JT, et al. Role of BMI-associated loci identified in GWAS meta-analyses in the context of common childhood obesity in European Americans. Obesity (Silver Spring). 2011 Dec;19(12):2436-9.

Zheng J, Ibrahim S, Petersen F, Yu X. Meta-analysis reveals an association of PTPN22 C1858T with autoimmune diseases, which depends on the localization of the affected tissue. Genes Immun. 2012 Dec;13(8):641-52.

Zhernakova A, Alizadeh BZ, Bevova M, et al. Novel association in chromosome 4q27 region with rheumatoid arthritis and confirmation of Type 1 diabetes point to a general risk locus for autoimmune diseases. American Journal of Human Genetics. 2007;81(6):1284-1288.

Zhou DQ, Hu Y, Liu G, Gong L, Xi Y, Wen L. Muscle-specific creatine kinase gene polymorphism and running economy responses to an 18-week 5000-m training programme. British journal of sports medicine. 2006 Dec 1;40(12):988-91.

Zhu J, Loos RJF, Lu L, et al. Associations of genetic risk score with obesity and related traits and the modifying effect of physical activity in a Chinese Han population. Hsu Y-H, ed. PLoS ONE. 2014;9(3):e91442.




Chapter 15
Contributors and acknowledgments
Science is a collaborative endeavor. We are most grateful to all of those who contributed their data and expertise to help us write this book.
Chapter 13
Glossary of terms
Confused by codons? Mystified by mutations? No worries, we’ve got a handy glossary for all the technical terms we’ve used in this book.

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