Scientific Evidence

myDNA’s clinical team includes pharmacologists, molecular and clinical geneticists, researchers, genetic counsellors, nutritionists and dietitians.

Between them they have researched and referenced 100s of global peer-reviewed research studies to ensure the insights and recommendations we provide are only those with the most substantial evidence.

  • Frayling TM, Timpson NJ, Weedon MN, Zeggini E, Freathy RM, Lindgren CM, 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.
  • Cecil J, Dalton M, Finlayson G, Blundell J, Hetherington M, Palmer C. Obesity and eating behaviour in children and adolescents: contribution of common gene polymorphisms. Int Rev Psychiatry. 2012;24(3):200-10.
  • Karra E, O’Daly OG, Choudhury AI, Yousseif A, Millership S, Neary MT, et al. A link between FTO, ghrelin, and impaired brain food-cue responsivity. J Clin Invest. 2013;123(8):3539-51.
  • Tovar A, Emond JA, Hennessy E, Gilbert-Diamond D. An FTO Gene Variant Moderates the Association between Parental Restriction and Child BMI. PLoS One. 2016;11(5):e0155521.
  • Livingstone KM, Celis-Morales C, Papandonatos GD, Erar B, Florez JC, Jablonski KA, et al. FTO genotype and weight loss: systematic review and meta-analysis of 9563 individual participant data from eight randomised controlled trials. BMJ. 2016;354:i4707.
  • Zhang X, Qi Q, Zhang C, Smith SR, Hu FB, Sacks FM, et al. FTO genotype and 2-year change in body composition and fat distribution in response to weight-loss diets: the POUNDS LOST Trial. Diabetes. 2012;61(11):3005-11.
  • Kilpelainen TO, Qi L, Brage S, Sharp SJ, Sonestedt E, Demerath E, 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.
  • Andreasen CH, Stender-Petersen KL, Mogensen MS, Torekov SS, Wegner L, Andersen G, et al. Low physical activity accentuates the effect of the FTO rs9939609 polymorphism on body fat accumulation. Diabetes. 2008;57(1):95-101.
  • Hardy R, Wills AK, Wong A, Elks CE, Wareham NJ, Loos RJ, et al. Life course variations in the associations between FTO and MC4R gene variants and body size. Hum Mol Genet. 2010;19(3):545-52.
  • Sacks FM, Bray GA, Carey VJ, Smith SR, Ryan DH, Anton SD, et al. Comparison of weight-loss diets with different compositions of fat, protein, and carbohydrates. N Engl J Med. 2009;360(9):859-73.
  • Gouda HN, Sagoo GS, Harding AH, Yates J, Sandhu MS, Higgins JP. The association between the peroxisome proliferator-activated receptor-gamma2 (PPARG2) Pro12Ala gene variant and type 2 diabetes mellitus: a HuGE review and meta-analysis. Am J Epidemiol. 2010;171(6):645-55.
  • Memisoglu A, Hu FB, Hankinson SE, Manson JE, De Vivo I, Willett WC, 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.
  • Delahanty LM, Pan Q, Jablonski KA, Watson KE, McCaffery JM, Shuldiner A, et al. Genetic predictors of weight loss and weight regain after intensive lifestyle modification, metformin treatment, or standard care in the Diabetes Prevention Program. Diabetes Care. 2012;35(2):363-6.
  • Franks PW, Jablonski KA, Delahanty L, Hanson RL, Kahn SE, Altshuler D, et al. The Pro12Ala variant at the peroxisome proliferator-activated receptor gamma gene and change in obesity-related traits in the Diabetes Prevention Program. Diabetologia. 2007;50(12):2451-60.
  • Pihlajamaki J, Schwab U, Kaminska D, Agren J, Kuusisto J, Kolehmainen M, et al. Dietary polyunsaturated fatty acids and the Pro12Ala polymorphisms of PPARG regulate serum lipids through divergent pathways: a randomized crossover clinical trial. Genes Nutr. 2015;10(6):43.
  • Robitaille J, Despres JP, Perusse L, Vohl MC. The PPAR-gamma P12A polymorphism modulates the relationship between dietary fat intake and components of the metabolic syndrome: results from the Quebec Family Study. Clin Genet. 2003;63(2):109-16.
  • Kilpelainen TO, Lakka TA, Laaksonen DE, Lindstrom J, Eriksson JG, Valle TT, et al. SNPs in PPARG associate with type 2 diabetes and interact with physical activity. Med Sci Sports Exerc. 2008;40(1):25-33.
  • Ruchat SM, Rankinen T, Weisnagel SJ, Rice T, Rao DC, Bergman RN, et al. Improvements in glucose homeostasis in response to regular exercise are influenced by the PPARG Pro12Ala variant: results from the HERITAGE Family Study. Diabetologia. 2010;53(4):679-89.
  • Goumidi L, Cottel D, Dallongeville J, Amouyel P, Meirhaeghe A. Effects of established BMI-associated loci on obesity-related traits in a French representative population sample. BMC Genet. 2014;15:62.
  • Hong KW, Oh B. Recapitulation of genome-wide association studies on body mass index in the Korean population. Int J Obes (Lond). 2012;36(8):1127-30.
  • Speliotes EK, Willer CJ, Berndt SI, Monda KL, Thorleifsson G, Jackson AU, et al. Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. Nat Genet. 2010;42(11):937-48.
  • Papandonatos GD, Pan Q, Pajewski NM, Delahanty LM, Peter I, Erar B, et al. Genetic Predisposition to Weight Loss and Regain With Lifestyle Intervention: Analyses From the Diabetes Prevention Program and the Look AHEAD Randomized Controlled Trials. Diabetes. 2015;64(12):4312-21.
  • Diabetes Prevention Program Research G. The Diabetes Prevention Program (DPP): description of lifestyle intervention. Diabetes Care. 2002;25(12):2165-71.
  • Isaacs A, Sayed-Tabatabaei FA, Njajou OT, Witteman JC, van Duijn CM. The -514 C->T hepatic lipase promoter region polymorphism and plasma lipids: a meta-analysis. J Clin Endocrinol Metab. 2004;89(8):3858-63.
  • Xu M, Ng SS, Bray GA, Ryan DH, Sacks FM, Ning G, et al. Dietary Fat Intake Modifies the Effect of a Common Variant in the LIPC Gene on Changes in Serum Lipid Concentrations during a Long-Term Weight-Loss Intervention Trial. J Nutr. 2015;145(6):1289-94.
  • Ordovas JM, Corella D, Demissie S, Cupples LA, Couture P, Coltell O, et al. Dietary fat intake determines the effect of a common polymorphism in the hepatic lipase gene promoter on high-density lipoprotein metabolism: evidence of a strong dose effect in this gene-nutrient interaction in the Framingham Study. Circulation. 2002;106(18):2315-21.
  • Grarup N, Andreasen CH, Andersen MK, Albrechtsen A, Sandbaek A, Lauritzen T, et al. The -250G>A promoter variant in hepatic lipase associates with elevated fasting serum high-density lipoprotein cholesterol modulated by interaction with physical activity in a study of 16,156 Danish subjects. J Clin Endocrinol Metab. 2008;93(6):2294-9.
  • De Caterina R, Talmud PJ, Merlini PA, Foco L, Pastorino R, Altshuler D, et al. Strong association of the APOA5-1131T>C gene variant and early-onset acute myocardial infarction. Atherosclerosis. 2011;214(2):397-403.
  • Zhao T, Zhao J. Association of the apolipoprotein A5 gene -1131 T>C polymorphism with fasting blood lipids: a meta-analysis in 37859 subjects. BMC Med Genet. 2010;11:120.
  • Lai CQ, Corella D, Demissie S, Cupples LA, Adiconis X, Zhu Y, et al. Dietary intake of n-6 fatty acids modulates effect of apolipoprotein A5 gene on plasma fasting triglycerides, remnant lipoprotein concentrations, and lipoprotein particle size: the Framingham Heart Study. Circulation. 2006;113(17):2062-70.
  • 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 A-V concentrations in patients with impaired fasting glucose or newly diagnosed type 2 diabetes. Trials. 2014;15:100.
  • Lu JF, Zhou Y, Huang GH, Jiang HX, Hu BL, Qin SY. Association of ADIPOQ polymorphisms with obesity risk: a meta-analysis. Hum Immunol. 2014;75(10):1062-8.
  • Gao M, Ding D, Huang J, Qu Y, Wang Y, Huang Q. Association of genetic variants in the adiponectin gene with metabolic syndrome: a case-control study and a systematic meta-analysis in the Chinese population. PLoS One. 2013;8(4):e58412.
  • Hara K, Boutin P, Mori Y, Tobe K, Dina C, Yasuda K, et al. Genetic variation in the gene encoding adiponectin is associated with an increased risk of type 2 diabetes in the Japanese population. Diabetes. 2002;51(2):536-40.
  • Mente A, Razak F, Blankenberg S, Vuksan V, Davis AD, Miller R, et al. Ethnic variation in adiponectin and leptin levels and their association with adiposity and insulin resistance. Diabetes Care. 2010;33(7):1629-34.
  • Cheung CY, Hui EY, Cheung BM, Woo YC, Xu A, Fong CH, et al. Adiponectin gene variants and the risk of coronary heart disease: a 16-year longitudinal study. Eur J Endocrinol. 2014;171(1):107-15.
  • Shin MJ, Jang Y, Koh SJ, Chae JS, Kim OY, Lee JE, et al. The association of SNP276G>T at adiponectin gene with circulating adiponectin and insulin resistance in response to mild weight loss. Int J Obes (Lond). 2006;30(12):1702-8.
  • Yu N, Ruan Y, Gao X, Sun J. Systematic Review and Meta-Analysis of Randomized, Controlled Trials on the Effect of Exercise on Serum Leptin and Adiponectin in Overweight and Obese Individuals. Horm Metab Res. 2017;49(3):164-73.
  • Reis CE, Bressan J, Alfenas RC. Effect of the diet components on adiponectin levels. Nutr Hosp. 2010;25(6):881-8.
  • Qi L, Kraft P, Hunter DJ, Hu FB. The common obesity variant near MC4R gene is associated with higher intakes of total energy and dietary fat, weight change and diabetes risk in women. Hum Mol Genet. 2008;17(22):3502-8.
  • Obregon AM, Oyarce K, Santos JL, Valladares M, Goldfield G. Association of the melanocortin 4 receptor gene rs17782313 polymorphism with rewarding value of food and eating behavior in Chilean children. J Physiol Biochem. 2017;73(1):29-35.
  • Ho-Urriola J, Guzman-Guzman IP, Smalley SV, Gonzalez A, Weisstaub G, Dominguez-Vasquez P, et al. Melanocortin-4 receptor polymorphism rs17782313: association with obesity and eating in the absence of hunger in Chilean children. Nutrition (Burbank, Los Angeles County, Calif). 2014;30(2):145-9.
  • Stutzmann F, Cauchi S, Durand E, Calvacanti-Proenca C, Pigeyre M, Hartikainen AL, et al. Common genetic variation near MC4R is associated with eating behaviour patterns in European populations. Int J Obes (Lond). 2009;33(3):373-8.
  • Yilmaz Z, Davis C, Loxton NJ, Kaplan AS, Levitan RD, Carter JC, et al. Association between MC4R rs17782313 polymorphism and overeating behaviors. Int J Obes (Lond). 2015;39(1):114-20.
  • Jaaskelainen A, Schwab U, Kolehmainen M, Kaakinen M, Savolainen MJ, Froguel P, et al. Meal frequencies modify the effect of common genetic variants on body mass index in adolescents of the northern Finland birth cohort 1986. PLoS One. 2013;8(9):e73802.
  • Mandel AL, Breslin PA. High endogenous salivary amylase activity is associated with improved glycemic homeostasis following starch ingestion in adults. J Nutr. 2012;142(5):853-8.
  • Falchi M, El-Sayed Moustafa JS, Takousis P, Pesce F, Bonnefond A, Andersson-Assarsson JC, et al. Low copy number of the salivary amylase gene predisposes to obesity. Nat Genet. 2014;46(5):492-7.
  • Zheng R, Zhang J, Ying Z, Zheng N. Low Serum Amylase is Associated with Gestational Diabetes Mellitus in Chinese Pregnant Women. Clin Lab. 2015;61(10):1423-8.
  • Mejia-Benitez MA, Bonnefond A, Yengo L, Huyvaert M, Dechaume A, Peralta-Romero J, et al. Beneficial effect of a high number of copies of salivary amylase AMY1 gene on obesity risk in Mexican children. Diabetologia. 2015;58(2):290-4.
  • Perry GH, Dominy NJ, Claw KG, Lee AS, Fiegler H, Redon R, et al. Diet and the evolution of human amylase gene copy number variation. Nat Genet. 2007;39(10):1256-60.
  • Miquel-Kergoat S, Azais-Braesco V, Burton-Freeman B, Hetherington MM. Effects of chewing on appetite, food intake and gut hormones: A systematic review and meta-analysis. Physiol Behav. 2015;151:88-96.
  • Koibuchi E, Suzuki Y. Exercise upregulates salivary amylase in humans (Review). Exp Ther Med. 2014;7(4):773-7.
  • Nagai N, Sakane N, Kotani K, Hamada T, Tsuzaki K, Moritani T. Uncoupling protein 1 gene -3826 A/G polymorphism is associated with weight loss on a short-term, controlled-energy diet in young women. Nutr Res. 2011;31(4):255-61.
  • Nagai N, Sakane N, Tsuzaki K, Moritani T. UCP1 genetic polymorphism (-3826 A/G) diminishes resting energy expenditure and thermoregulatory sympathetic nervous system activity in young females. Int J Obes (Lond). 2011;35(8):1050-5.
  • Coffee, Caffeine Genetics C, Cornelis MC, Byrne EM, Esko T, Nalls MA, et al. Genome-wide meta-analysis identifies six novel loci associated with habitual coffee consumption. Mol Psychiatry. 2015;20(5):647-56.
  • Sulem P, Gudbjartsson DF, Geller F, Prokopenko I, Feenstra B, Aben KK, et al. Sequence variants at CYP1A1-CYP1A2 and AHR associate with coffee consumption. Hum Mol Genet. 2011;20(10):2071-7.
  • Corchero J, Pimprale S, Kimura S, Gonzalez FJ. Organization of the CYP1A cluster on human chromosome 15: implications for gene regulation. Pharmacogenetics. 2001;11(1):1-6.
  • Amin N, Byrne E, Johnson J, Chenevix-Trench G, Walter S, Nolte IM, et al. Genome-wide association analysis of coffee drinking suggests association with CYP1A1/CYP1A2 and NRCAM. Mol Psychiatry. 2012;17(11):1116-29.
  • Sachse C, Brockmoller J, Bauer S, Roots I. Functional significance of a C–>A polymorphism in intron 1 of the cytochrome P450 CYP1A2 gene tested with caffeine. Br J Clin Pharmacol. 1999;47(4):445-9.
  • Murray S, Lake BG, Gray S, Edwards AJ, Springall C, Bowey EA, et al. Effect of cruciferous vegetable consumption on heterocyclic aromatic amine metabolism in man. Carcinogenesis. 2001;22(9):1413-20.
  • Denden S, Bouden B, Haj Khelil A, Ben Chibani J, Hamdaoui MH. Gender and ethnicity modify the association between the CYP1A2 rs762551 polymorphism and habitual coffee intake: evidence from a meta-analysis. Genetics and molecular research : GMR. 2016;15(2).
  • Childs E, Hohoff C, Deckert J, Xu K, Badner J, de Wit H. Association between ADORA2A and DRD2 polymorphisms and caffeine-induced anxiety. Neuropsychopharmacology. 2008;33(12):2791-800.
  • Nova P, Hernandez B, Ptolemy AS, Zeitzer JM. Modeling caffeine concentrations with the Stanford Caffeine Questionnaire: preliminary evidence for an interaction of chronotype with the effects of caffeine on sleep. Sleep Med. 2012;13(4):362-7.
  • Renda G, Zimarino M, Antonucci I, Tatasciore A, Ruggieri B, Bucciarelli T, et al. Genetic determinants of blood pressure responses to caffeine drinking. Am J Clin Nutr. 2012;95(1):241-8.
  • Retey JV, Adam M, Khatami R, Luhmann UF, Jung HH, Berger W, et al. A genetic variation in the adenosine A2A receptor gene (ADORA2A) contributes to individual sensitivity to caffeine effects on sleep. Clin Pharmacol Ther. 2007;81(5):692-8.
  • Rogers PJ, Hohoff C, Heatherley SV, Mullings EL, Maxfield PJ, Evershed RP, et al. Association of the anxiogenic and alerting effects of caffeine with ADORA2A and ADORA1 polymorphisms and habitual level of caffeine consumption. Neuropsychopharmacology. 2010;35(9):1973-83.
  • Begas E, Kouvaras E, Tsakalof A, Papakosta S, Asprodini EK. In vivo evaluation of CYP1A2, CYP2A6, NAT-2 and xanthine oxidase activities in a Greek population sample by the RP-HPLC monitoring of caffeine metabolic ratios. Biomed Chromatogr. 2007;21(2):190-200.
  • Colares-Bento FC, Souza VC, Toledo JO, Moraes CF, Alho CS, Lima RM, et al. Implication of the G145C polymorphism (rs713598) of the TAS2r38 gene on food consumption by Brazilian older women. Arch Gerontol Geriatr. 2012;54(2):e13-8.
  • Perna S, Riva A, Nicosanti G, Carrai M, Barale R, Vigo B, et al. Association of the bitter taste receptor gene TAS2R38 (polymorphism RS713598) with sensory responsiveness, food preferences, biochemical parameters and body-composition markers. A cross-sectional study in Italy. Int J Food Sci Nutr. 2018;69(2):245-52.
  • Allen AL, McGeary JE, Hayes JE. Polymorphisms in TRPV1 and TAS2Rs associate with sensations from sampled ethanol. Alcoholism, clinical and experimental research. 2014;38(10):2550-60.
  • Inoue H, Kuwano T, Yamakawa-Kobayashi K, Waguri T, Nakano T, Suzuki Y. Perceived 6-n-Propylthiouracil (PROP) Bitterness Is Associated with Dietary Sodium Intake in Female Japanese College Students. J Nutr Sci Vitaminol (Tokyo). 2017;63(3):167-73.
  • Duffy VB, Davidson AC, Kidd JR, Kidd KK, Speed WC, Pakstis AJ, et al. Bitter receptor gene (TAS2R38), 6-n-propylthiouracil (PROP) bitterness and alcohol intake. Alcoholism, clinical and experimental research. 2004;28(11):1629-37.
  • Wolfle U, Elsholz FA, Kersten A, Haarhaus B, Schumacher U, Schempp CM. Expression and Functional Activity of the Human Bitter Taste Receptor TAS2R38 in Human Placental Tissues and JEG-3 Cells. Molecules. 2016;21(3):306.
  • Kim UK, Wooding S, Riaz N, Jorde LB, Drayna D. Variation in the human TAS1R taste receptor genes. Chem Senses. 2006;31(7):599-611.
  • Eny KM, Wolever TM, Corey PN, El-Sohemy A. Genetic variation in TAS1R2 (Ile191Val) is associated with consumption of sugars in overweight and obese individuals in 2 distinct populations. Am J Clin Nutr. 2010;92(6):1501-10.
  • Potier M, Darcel N, Tome D. Protein, amino acids and the control of food intake. Curr Opin Clin Nutr Metab Care. 2009;12(1):54-8.
  • Kulkarni GV, Chng T, Eny KM, Nielsen D, Wessman C, El-Sohemy A. Association of GLUT2 and TAS1R2 genotypes with risk for dental caries. Caries Res. 2013;47(3):219-25.
  • Haznedaroglu E, Koldemir-Gunduz M, Bakir-Coskun N, Bozkus HM, Cagatay P, Susleyici-Duman B, et al. Association of sweet taste receptor gene polymorphisms with dental caries experience in school children. Caries Res. 2015;49(3):275-81.
  • Melis M, Tomassini Barbarossa I. Taste Perception of Sweet, Sour, Salty, Bitter, and Umami and Changes Due to l-Arginine Supplementation, as a Function of Genetic Ability to Taste 6-n-Propylthiouracil. Nutrients. 2017;9(6).
  • Low YQ, Lacy K, Keast R. The role of sweet taste in satiation and satiety. Nutrients. 2014;6(9):3431-50.
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  • Rayner B, Ramesar R, Steyn K, Levitt N, Lombard C, Charlton K. G-protein-coupled receptor kinase 4 polymorphisms predict blood pressure response to dietary modification in Black patients with mild-to-moderate hypertension. J Hum Hypertens. 2012;26(5):334-9.
  • Lee M, Kim MK, Kim SM, Park H, Park CG, Park HK. Gender-based differences on the association between salt-sensitive genes and obesity in Korean children aged between 8 and 9 years. PLoS One. 2015;10(3):e0120111.
  • Luczak SE, Pandika D, Shea SH, Eng MY, Liang T, Wall TL. ALDH2 and ADH1B interactions in retrospective reports of low-dose reactions and initial sensitivity to alcohol in Asian American college students. Alcoholism, clinical and experimental research. 2011;35(7):1238-45.
  • Yokoyama M, Yokoyama A, Yokoyama T, Funazu K, Hamana G, Kondo S, et al. Hangover susceptibility in relation to aldehyde dehydrogenase-2 genotype, alcohol flushing, and mean corpuscular volume in Japanese workers. Alcoholism, clinical and experimental research. 2005;29(7):1165-71.
  • Zhang GH, Mai RQ, Huang B. Meta-analysis of ADH1B and ALDH2 polymorphisms and esophageal cancer risk in China. World J Gastroenterol. 2010;16(47):6020-5.
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  • Hashibe M, Boffetta P, Zaridze D, Shangina O, Szeszenia-Dabrowska N, Mates D, et al. Evidence for an important role of alcohol- and aldehyde-metabolizing genes in cancers of the upper aerodigestive tract. Cancer Epidemiol Biomarkers Prev. 2006;15(4):696-703.
  • Lee CH, Lee JM, Wu DC, Goan YG, Chou SH, Wu IC, et al. Carcinogenetic impact of ADH1B and ALDH2 genes on squamous cell carcinoma risk of the esophagus with regard to the consumption of alcohol, tobacco and betel quid. Int J Cancer. 2008;122(6):1347-56.
  • _Guo H, Zhang G, Mai R. Alcohol dehydrogenase-1B Arg47His polymorphism and upper aerodigestive tract cancer risk: a meta-analysis including 24,252 subjects. Alcoholism, clinical and experimental research. 2012;36(2):272-8.
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  • Yadav U, Kumar P, Yadav SK, Mishra OP, Rai V. “Polymorphisms in folate metabolism genes as maternal risk factor for neural tube defects: an updated meta-analysis”. Metab Brain Dis. 2015;30(1):7-24.
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