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Scientific References

APOE

  1. Jansen I, Savage J, Watanabe K et al. Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer’s disease risk. Nat Genet. 2019;51(3):404-413
  2. Andrews SJ, Fulton-Howard B, and Goate A. Interpretation of risk loci from genome-wide association studies of Alzheimer’s disease. Lancet Neurol. 2020;19(4):326-335.
  3. Kuo CL, Pilling LC, Atkins JL, et al. APOE e4 genotype predicts severe COVID-19 in the UK Biobank Community Cohort. J Gerontol A Biol Sci Med Sci. 2020;75(11):2231-2232.
  4. Wang T, Huynh K, Giles C, et al. APOE ε2 resilience for Alzheimer’s disease is mediated by plasma lipid species: Analysis of three independent cohort studies. Alzheimers Dement. 2022;18(11):2151-2166.
  5. NIH-funded research provides new clues on how ApoE4 affects Alzheimer’s risk. National Institutes of Health website.
    https://www.nih.gov/news-events/news-releases/nih-funded-research-provides-new-clues-how-apoe4-affects-alzheimers-risk. Published May 16, 2012. Accessed December 4, 2019.
  6. Liu CC, Liu CC, Kanekiyo T, Xu H, Bu G. Apolipoprotein E and Alzheimer disease: risk, mechanisms and therapy. Nat Rev Neurol. 2013;9(2):106-18.
  7. Shankar GM, Li S, Mehta TH, et al. Amyloid-beta protein dimers isolated directly from Alzheimer’s brains impair synaptic plasticity and memory. Nat Med. 2008;14(8):837-42.
  8. Prelli F, Castaño E, Glenner GG, Frangione B. Differences between vascular and plaque core amyloid in Alzheimer’s disease. J Neurochem. 1988;51(2):648-51.
  9. Strittmatter WJ, Saunders AM, Schmecheld et al. Apolipoprotein E: High-avidity binding to B-amyloid and increased frequency of type 4 allele in late-onset familial Alzheimer disease. PNAS. 1993:90;1977-1981.
  10. Aleshkov S, Abraham CR, and Zannis VI. Interaction of nascent ApoE2, ApoE3, and ApoE4 isoforms expressed in mammalian cells with amyloid peptide beta (1-40). Relevance to Alzheimer’s disease. Biochemistry. 1997:36(34);10571-80.
  11. Liu Y, Yu JT, Wang HF, et al. APOE genotype and neuroimaging markers of Alzheimer’s disease: systematic review and meta-analysis. J Neurol Neurosurg Psychiatry. 2015;86(2):127-34.
  12. Huang W, Qiu C, Von strauss E, Winblad B, Fratiglioni L. APOE genotype, family history of dementia, and Alzheimer disease risk: a 6-year follow-up study. Arch Neurol. 2004;61(12):1930-4.
  13. Weisgraber KH, Innerarity TL, Mahley RW. Abnormal lipoprotein receptor-binding activity of the human E apoprotein due to cysteine-arginine interchange at a single site. J Biol Chem. 1982;257(5):2518-21.
  14. Mahley RW, Huang Y, Rall SC. Pathogenesis of type III hyperlipoproteinemia (dysbetalipoproteinemia). Questions, quandaries, and paradoxes. J Lipid Res. 1999;40(11):1933-49.
  15. Mahley RW, Rall SC. Apolipoprotein E: far more than a lipid transport protein. Annu Rev Genomics Hum Genet. 2000;1:507-37.
  16. Mediterranean diet: A heart-healthy eating plan. Mayo Clinic website. https://www.mayoclinic.org/healthy-lifestyle/nutrition-and-healthyeating/in-depth/mediterranean-diet/art-20047801. Accessed December 4, 2019.
  17. The Secret Behind the Mediterranean Diet. Life Extension website. https://www.lifeextension.com/magazine/2010/1/the-secret-behind-themediterranean- diet. Published January 2010. Accessed December 4, 2019.
  18. Nutrition and Healthy Eating. Mayo Clinic website. https://www.mayoclinic.org/healthy-lifestyle/nutrition-and-healthy-eating/indepth/nutrition-basics/hlv-20049477. Accessed December 4, 2019.
  19. Robinson JG, Stone NJ. Antiatherosclerotic and antithrombotic effects of omega-3 fatty acids. Am J Cardiol. 2006;98(4A):39i-49i.
  20. Thomas SR, Neuzil J, Mohr D, Stocker R. Coantioxidants make alpha-tocopherol an efficient antioxidant for low-density lipoprotein. Am J Clin Nutr. 1995;62(6 Suppl):1357S-1364S.
  21. Jie KG, Bots ML, Vermeer C, Witteman JC, Grobbee DE. Vitamin K status and bone mass in women with and without aortic atherosclerosis: a population-based study. Calcif Tissue Int. 1996;59(5):352-6.
  22. Geleijnse JM, Vermeer C, Grobbee DE, et al. Dietary intake of menaquinone is associated with a reduced risk of coronary heart disease: the Rotterdam Study. J Nutr. 2004;134(11):3100-519.
  23. Aviram M, Dornfeld L. Pomegranate juice consumption inhibits serum angiotensin converting enzyme activity and reduces systolic blood pressure. Atherosclerosis. 2001;158(1):195-8.
  24. Aviram M, Rosenblat M, Gaitini D, et al. Pomegranate juice consumption for 3 years by patients with carotid artery stenosis reduces common carotid intima-media thickness, blood pressure and LDL oxidation. Clin Nutr. 2004;23(3):423-33.
  25. Enhance Endothelial Health: How Pomegranate Protects Against Atherosclerosis. Life Extension website.
    https://www.lifeextension.com/magazine/2014/11/enhance-endothelial-health-how-pomegranate-protects-against-atherosclerosis. Published November 2014. Accessed December 4, 2019.
  26. Hu S, Belcaro G, Cornelli U, et al. Effects of Pycnogenol® on endothelial dysfunction in borderline hypertensive, hyperlipidemic, and hyperglycemic individuals: the borderline study. Int Angiol. 2015;34(1):43-52.
  27. Belcaro G, Dugall M, Hosoi M, et al. Pycnogenol® and Centella Asiatica for asymptomatic atherosclerosis progression. Int Angiol. 2014;33(1):20-6.
  28. Cesarone MR, Belcaro G, Nicolaides AN, et al. Increase in echogenicity of echolucent carotid plaques after treatment with total triterpenic fraction of Centella asiatica: a prospective, placebo-controlled, randomized trial. Angiology. 2001;52 Suppl 2:S19-25.
  29. Akhtar MS, Ramzan A, Ali A, Ahmad M. Effect of Amla fruit (Emblica officinalis Gaertn.) on blood glucose and lipid profile of normal subjects and type 2 diabetic patients. Int J Food Sci Nutr. 2011;62(6):609-16.
  30. Cai F, Li C, Wu J, et al. Modulation of the oxidative stress and nuclear factor kappaB activation by theaflavin 3,3′-gallate in the rats exposed to cerebral ischemia-reperfusion. Folia Biol (Praha). 2007;53(5):164-72.
  31. Englisch W, Beckers C, Unkauf M, Ruepp M, Zinserling V. Efficacy of Artichoke dry extract in patients with hyperlipoproteinemia. Arzneimittelforschung. 2000;50(3):260-5.
  32. Rondanelli M, Giacosa A, Opizzi A, et al. Beneficial effects of artichoke leaf extract supplementation on increasing HDL-cholesterol in subjects with primary mild hypercholesterolaemia: a double-blind, randomized, placebo-controlled trial. Int J Food Sci Nutr. 2013;64(1):7-15.
  33. Rondanelli M, Castellazzi AM, Riva A, et al. Natural Killer Response and Lipo-Metabolic Profile in Adults with Low HDL-Cholesterol and Mild Hypercholesterolemia: Beneficial Effects of Artichoke Leaf Extract Supplementation. Evid Based Complement Alternat Med. 2019;2019:2069701.
  34. Evans M, Rumberger JA, Azumano I, Napolitano JJ, Citrolo D, Kamiya T. Pantethine, a derivative of vitamin B5, favorably alters total, LDL and non-HDL cholesterol in low to moderate cardiovascular risk subjects eligible for statin therapy: a triple-blinded placebo and diet-controlled investigation. Vasc Health Risk Manag. 2014;10:89-100.
  35. Scarmeas N, Luchsinger JA, Schupf N, et al. Physical activity, diet, and risk of Alzheimer disease. JAMA. 2009;302(6):627-37.
  36. Larson EB, Wang L. Exercise, aging, and Alzheimer disease. Alzheimer Dis Assoc Disord. 2004;18(2):54-6.
  37. Hoffmann K, Sobol NA, Frederiksen KS, et al. Moderate-to-High Intensity Physical Exercise in Patients with Alzheimer’s Disease: A Randomized Controlled Trial. J Alzheimers Dis. 2016;50(2):443-53.
  38. How to Delay Brain Aging by 11 Years. Life Extension website. https://www.lifeextension.com/magazine/2016/4/how-to-delay-brain-aging-by-11-years. Published April 2016. Accessed December 5, 2019.
  39. Scarmeas N, Stern Y, Tang MX, Mayeux R, Luchsinger JA. Mediterranean diet and risk for Alzheimer’s disease. Ann Neurol. 2006;59(6):912-21.
  40. Yurko-mauro K, Mccarthy D, Rom D, et al. Beneficial effects of docosahexaenoic acid on cognition in age-related cognitive decline. Alzheimers Dement. 2010;6(6):456-64.
  41. Yassine HN, Feng Q, Azizkhanian I, et al. Association of Serum Docosahexaenoic Acid With Cerebral Amyloidosis. JAMA Neurol. 2016;73(10):1208-1216.
  42. Yassine HN, Braskie MN, Mack WJ, et al. Association of Docosahexaenoic Acid Supplementation With Alzheimer Disease Stage in Apolipoprotein E ε4 Carriers: A Review. JAMA Neurol. 2017;74(3):339-347.
  43. Kato-kataoka A, Sakai M, Ebina R, Nonaka C, Asano T, Miyamori T. Soybean-derived phosphatidylserine improves memory function of the elderly Japanese subjects with memory complaints. J Clin Biochem Nutr. 2010;47(3):246-55.
  44. Schreiber S, Kampf-sherf O, Gorfine M, Kelly D, Oppenheim Y, Lerer B. An open trial of plant-source derived phosphatydilserine for treatment of age-related cognitive decline. Isr J Psychiatry Relat Sci. 2000;37(4):302-7.
  45. Szilágyi G, Nagy Z, Balkay L, et al. Effects of vinpocetine on the redistribution of cerebral blood flow and glucose metabolism in chronic ischemic stroke patients: a PET study. J Neurol Sci. 2005;229-230:275-84.
  46. Dézsi L, Kis-varga I, Nagy J, Komlódi Z, Kárpáti E. [Neuroprotective effects of vinpocetine in vivo and in vitro. Apovincaminic acid derivatives as potential therapeutic tools in ischemic stroke]. Acta Pharm Hung. 2002;72(2):84-91.
  47. Pereira C, Agostinho P, Oliveira CR. Vinpocetine attenuates the metabolic dysfunction induced by amyloid beta-peptides in PC12 cells. Free Radic Res. 2000;33(5):497-506.
  48. Mashayekh A, Pham DL, Yousem DM, Dizon M, Barker PB, Lin DD. Effects of Ginkgo biloba on cerebral blood flow assessed by quantitative MR perfusion imaging: a pilot study. Neuroradiology. 2011;53(3):185-91.
  49. Motoi Y, Shimada K, Ishiguro K, Hattori N. Lithium and autophagy. ACS Chem Neurosci. 2014;5(6):434-42.
  50. Nunes MA, Schöwe NM, Monteiro-silva KC, et al. Chronic Microdose Lithium Treatment Prevented Memory Loss and Neurohistopathological Changes in a Transgenic Mouse Model of Alzheimer’s Disease. PLoS ONE. 2015;10(11):e0142267.
  51. Nunes MA, Viel TA, Buck HS. Microdose lithium treatment stabilized cognitive impairment in patients with Alzheimer’s disease. Curr Alzheimer Res. 2013;10(1):104-7.
  52. Szaniszlo P, German P, Hajas G, Saenz DN, Kruzel M, Boldogh I. New insights into clinical trial for Colostrinin in Alzheimer’s disease. J Nutr Health Aging. 2009;13(3):235-41.
  53. Leszek J, Inglot AD, Janusz M, et al. Colostrinin proline-rich polypeptide complex from ovine colostrum–a long-term study of its efficacy in Alzheimer’s disease. Med Sci Monit. 2002;8(10):PI93-6.
  54. Slutsky I, Abumaria N, Wu LJ, et al. Enhancement of learning and memory by elevating brain magnesium. Neuron. 2010;65(2):165-77.
  55. Li W, Yu J, Liu Y, et al. Elevation of brain magnesium prevents synaptic loss and reverses cognitive deficits in Alzheimer’s disease mouse model. Mol Brain. 2014;7:65.
  56. Wang J, Liu Y, Zhou LJ, et al. Magnesium L-threonate prevents and restores memory deficits associated with neuropathic pain by inhibition of TNF-α. Pain Physician. 2013;16(5):E563-75.
  57. Zhang HY, Tang XC. Neuroprotective effects of huperzine A: new therapeutic targets for neurodegenerative disease. Trends Pharmacol Sci. 2006;27(12):619-25.
  58. Liang YQ, Tang XC. Comparative effects of huperzine A, donepezil and rivastigmine on cortical acetylcholine level and acetylcholinesterase activity in rats. Neurosci Lett. 2004;361(1-3):56-9.
  59. Li WM, Kan KK, Carlier PR, Pang YP, Han YF. East meets West in the search for Alzheimer’s therapeutics – novel dimeric inhibitors from tacrine and huperzine A. Curr Alzheimer Res. 2007;4(4):386-96.
  60. Kennedy DO, Pace S, et al. Effects of cholinesterase inhibiting sage (Salvia officinalis) on mood, anxiety and performance on a psychological stressor battery. Neuropsychopharmacology. 2006;31(4):845-52.
  61. Lopresti A et al. Salvia (Sage): A Review of its Potential Cognitive-Enhancing and Protective Effects. Drugs in R&D. 2017;17(1):53-64.
  62. Scholey AB, et al. An extract of Salvia (sage) with anticholinesterase properties improves memory and attention in healthy older volunteers. Psychopharmacology. 2008;198(1):127-39.

Cardiac Health

  1. Cheng Y, Liu S, Chen D, et al. Association between serum 5‑methyltetrahydrofolate and homocysteine in Chinese hypertensive participants with different MTHFR C677T polymorphisms: a cross‑sectional study. Nutrition Journal. 2022;21:29.
  2. Kalpana B, Murthy DK, Balakrishna N, and Aiyengar MT. Genetic variants of chromosome 9p21.3 region associated with coronary artery disease and premature coronary artery disease in an Asian Indian population. Indian Heart Journal. 2019;71:263-271.
  3. Karjalainen JP, Mononen N, Hutri-Kahonen N, et al. New evidence from plasma ceramides links apoE polymorphism to greater risk of coronary artery disease in Finnish adults. J Lipid Res. 2019;60:1622-1629.
  4. Luo Z, Lu Z, Muhammad I, et al. Associations of the MTHFR rs1801133 polymorphism with coronary artery disease and lipid levels: a systematic review and updated meta-analysis. Lipids in Health and Disease. 2018;17:191
  5. Shi J, Liu S, Guo Y, et al. Association between eNOS rs1799983 polymorphism and hypertension: a meta‑analysis involving 14,185 cases and 13,407 controls. BMC Cardiovasc Disord. 2021;21:385.
  6. Yuan W, Zhang W, Ruan ZB, et al. New findings in the roles of Cyclin-dependent Kinase inhibitors 2B Antisense RNA 1 (CDKN2B-AS1) rs1333049 G/C and rs4977574 A/G variants on the risk to coronary heart disease. Bioengineered. 2020;11(1):1084-1098.
  7. Li YY, Wang H, Wang H, Zhang YY. Myocardial Infarction and AGT p.Thr174Met Polymorphism: A Meta-Analysis of 7657 Subjects. Cardiovasc Ther. 2021:6667934.
  8. Zöller B, Svensson PJ, Dahlbäck B, et al. Genetic risk factors for venous thromboembolism, Expert Review of Hematology, 2020;13(9):971-981.
  9. Roberts R and Stewart A. 9p21 and the genetic Revolution for Coronary Artery Disease. Clinical Chemistry. 2012; 58(1):104-112.
  10. Catt KJ et al. Angiotensin II blood levels in human hypertension. The Lancet. 1971; 297:459-464.
  11. Wang WZ. Association between T174M polymorphism in the angiotensinogen gene and risk of coronary artery disease: a meta-analysis. J Geriatr Cardiol. 2013: 10:59-65.
  12. Cosentino F and Luscher TF. Maintenance of vascular integrity: role of nitric oxide and other bradykinin mediators. Eur Heart J. 1995; 16 Suppl K:4-12.
  13. Tesauro M et. Al. Intracellular processing of endothelial nitric oxide synthase isoforms associated with differences in severity of cardiopulmonary diseases: cleavage of proteins with aspartate vs. glutamate at position 298. Proc Natl Acad Sci USA. 2006:2832-2835.
  14. Wang M et al. Association of G894T polymorphism in endothelial nitric oxide synthase gene with the risk of ischemic stroke: A meta-analysis.Biomed Rep. 2013: (1)1:144-150.
  15. Refsum H et al. The Hordaland Homocysteine Study: A community-Based Study of Homocysteine, Its Determinants, and Associations with Disease. J Nutr. 2006; 136:1731S-174OS.
  16. Frost P et. Al. A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nat Genet.1995; 10-111-113.
  17. Cotlarciuc I et al. Effect of genetic variants associated with plasma homocysteine levels on stroke risk. Stroke. 2014; 45(7):1920-4.
  18. Weisberg I et al. A second genetic polymorphism in methylenetetrahydrofolate reductase (MTHFR) associated with decreased enzyme activity. Mol Genet Metab. 1998; 64:169-72
  19. Poort SR et.al. A common genetic variation in the 3’-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis. Blood. Nov 15, 1996:88(10):3698-703.
  20. Simone B et al. Risk of venous thromboembolism associated with single and combined effects of Factor V Leiden, Prothrombin 20210A and Methylenetethraydrofolate reductase C677T: a meta-analysis involving over 11,000 cases and 21,000 controls. Eur J Epidemiol. 2013; 28(8):621-47.
  21. Gohil, R et al. The Genetics of Venous Thromboembolism: A meta-analysis involving 120,000 cases and 180,000 controls. Journal of Thrombosis and Haemostasis. 2009; 102: 360-370.
  22. Kujovich J et. al GeneReviews; 1999 “Factor V Leiden Thrombophilia”.
  23. Bertina RM et al. Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature. 1994; 369(6475):64-7.
  24. Mahley RW et al. Apolipoprotein E: Far More Than a Lipid Transport Protein. Annu Rev Genomics Hum Genet. 2000; 1:507-537.
  25. Howard BV et al. Association of Apolipoprotein E Phenotype with Plasma lipoproteins in African-American and White Young Adults. Am J Epidemiol. 1998: 148(9):859-868.
  26. Niemi M et al. Organic Anion Transporting Protein 181:a Genetically Polymorphic Transporter of Major Importance for Hepatic Drug Uptake. Pharm Review. 2011; 63(1): 157-181.
  27. Saita E et al. Anti-inflammatory Diet for Atherosclerosis and Coronary Artery Disease: Antioxidant Foods. Clinical Medicine Insights: Cardiology. 2014:8(S3) 61-65.
  28. Fan E, Zhang L, Jiang S, Bai Y. Beneficial effects of resveratrol on atherosclerosis. J Med Food. 2008;11(4):610-4.
  29. Hosogoe N et al. Add-on Antiplatelet Effects of Eicosapentaenoic Acid with Tailored Dose Setting in Patients on Dual Antiplatelet Therapy. Int Heart J. 2017 Ag 3; 58 (4): 481-485.
  30. Ho, H. T. et al. A systematic review and meta-analysis of randomized controlled trials of the effect of konjac glucomannan, a viscous soluble fiber, on LDL cholesterol and the new lipid targets non-HDL cholesterol and apolipoprotein B. Am J Clin Nutr. 2017; 105(5):1239-1247.
  31. Zelman, K. April 07, 2016. Fiber: How Much Do I Need? WebMD. https://www.webmd.com/diet/guide/fiber-how-much-do-you-need#1. [2017,October 2]
  32. Nordmann A et al. Effects of Low-Carbohydrate vs Low-fat Diets on Weight loss and Cardiovascular Risk Factors. Arch Intern Med. 2006; 166:285-293.

Celiac – DQ2/DQ8

  1. Megiorni F et al. HLA-DQ and risk gradient for celiac disease. Hum Imm. 2009; 70:55-59.
  2. Megiorni F et al. HLA-DQA1 and HLA-DQB1 in celiac disease predisposition: practical implications of the HLA molecular typing. J of Biomed Sci. 2012; 19:88.
  3. Abadie et al. Integration of genetic and immunological insights into a model of celiac disease pathogenesis. Annu. Rev. Immunol. 2011; 29:493-525.
  4. Kagnoff MF. Celiac disease: pathogenesis of a model immunogenetic disease. J Clin Invest. 2007; 117:41-49.
  5. Megiorni F et al. HLA-DQ and susceptibility to celiac disease: evidence for gender differences and parent-of-origin effects. Am J Gastroenterol. 2008; 103:997-1003.
  6. Karell et al. HLA types in celiac disease patients not carrying the DQA1*05-DQB1*02(DQ2) heterodimer: results from the European genetics cluster of celiac disease. Hum Immunol. 2003; 64:469-477

Comprehensive Genetic

  1. Jalba MS, Rhoads GG, Demissie K. Association of codon 16 and codon 27 beta 2-adrenergic receptor gene polymorphisms with obesity: a meta-analysis. Obesity (Silver Spring). 2008;16(9):2096-106.
  2. Lange LA, Norris JM, Langefeld CD, et al. Association of adipose tissue deposition and beta-2 adrenergic receptor variants: the IRAS family study. Int J Obes (Lond). 2005;29(5):449-57.
  3. Martínez JA et al. Obesity risk is associated with carbohydrate intake in women with the Gln27Glu β2-adrenoreceptor polymorphism. J Nutr. 2003; 133:2549-2554.
  4. Large V et al. Human Beta-2 adrenoreceptor gene polymorphisms are highly frequent in obesity and associate with altered adipocyte Beta-2 adrenoceptor function. J Clin Invest. 1997; 100:3005-3013.
  5. Macho-Azcarate et al. Gln27Glu polymorphism in the beta2 adrenergic receptor gene and lipid metabolism during exercise in obese women. Int J Obesity. 2002; 26:1434-1441.
  6. HGNC. http://www.genenames.org/cgibin/gene_symbol_report? hgnc_id=HGNC:286.
  7. org. Nutrition and Healthy Eating: Carbohydrates: How carbs fit into a healthy diet. http://www.mayoclinic.org/healthy-living/nutrition-and-healthy-eating/in-depth/carbohydrates/art-20045705?pg=1.
  8. Layman DK. Dietary Guidelines should reflect new understandings about adult protein needs. Nutr Metab (Lond). 2009; 6:12.
  9. Phares DA et al. Association Between Body Fat Response to Exercise Training and Multilocus ADR Genotypes. Obes Res. 2004; 12(5):807-815.
  10. Corbalan MS et al. The 27Glu polymorphism of the Beta2-adrenergic receptor gene interacts with physical activity influencing obesity risk among female subjects. Clin Genet. 2002; 61:305-307.
  11. Zhang et al. Association of Gln27Glu and Arg16Gly Polymorphisms in Beta2-Adrenergic Receptor Gene with Obesity Susceptibility: A Meta-Analysis. PLoS ONE. 2014; 9(6): e100489.
  12. Martinez-lopez E, Garcia-garcia MR, Gonzalez-avalos JM, et al. Effect of Ala54Thr polymorphism of FABP2 on anthropometric and biochemical variables in response to a moderate-fat diet. Nutrition. 2013;29(1):46-51.
  13. Pratley RE, Baier L, Pan DA, et al. Effects of an Ala54Thr polymorphism in the intestinal fatty acid-binding protein on responses to dietary fat in humans. J Lipid Res. 2000;41(12):2002-8.
  14. Levy E et al. The polymorphism at codon 54 of the FABP2 gene increases fat absorption in human intestinal explants. J Biol Chem. 2001; 276:39679-39684.
  15. Marin C et al. The Ala54Thr polymorphism of the fatty acid-binding protein 2 gene is associated with a change in insulin sensitivity after a change in the type of dietary fat. Am J Clin Nutr. 2005; 82:196-200.
  16. Albala C et al. FABP2 Ala54Thr polymorphism and diabetes in Chilean elders. Diab Res Clin Pract. 2007; 77:245-250.
  17. Paglialunga S et al. Regulation of postprandial lipemia: an update on current trends. Appl Physiol Nutr Metab. 2007; 32:61-75.
  18. Takakura Y et al. Thr54 allele of the FABP2 gene affects resting metabolic rate and visceral obesity. Diabetes Res Clin Pract. 2005; 67:36-42.
  19. Hegele RA. A Review of Intestinal Fatty Acid Binding Protein Gene Variation and the Plasma Lipoprotein Response to Dietary Components. Clin Biochem. 1998; 31:609-612.
  20. Gaggini M et al. Non-Alcoholic Fatty Liver Disease (NAFLD) and Its Connection with Insulin Resistance, Dyslipidemia, Atherosclerosis and Coronary Heart Disease. Nutrients. 2013; 5:1544-1560.
  21. Almeida JC et al. The Ala54Thr polymorphism of the FABP2 gene influences the postprandial fatty acids in patients with type 2 diabetes. J Clin Endocrin Met. 2010; 95:3909-3917.
  22. Dworatzek PD et al. Postprandial lipemia in subjects with the threonine 54 variant of the fatty acid-binding protein 2 gene is dependent on the type of fat ingested. Am J Clin Nutr. 2004; 79:1110-1117.
  23. Weiss EP et al. FABP2 Ala54Thr genotype is associated with glucoregulatory function and lipid oxidation after a high-fat meal in sedentary nondiabetic men and women. Am J Clin Nutr. 2007; 85:102-108.
  24. Weickert MO et al. Metabolic Effects of Dietary Fiber consumption and Prevention of Diabetes. J Nutr. 2008; 138(3):439-442.
  25. org. Nutrition and Healthy Eating: Carbohydrates: How carbs fit into a healthy diet. http://www.mayoclinic.org/ healthy-living/nutrition-and-healthy-eating/in-depth/carbohydrates/ art-20045705?pg=1
  26. Pfeiffer M et al. The influence of walking performed immediately before meals with moderate fat content on postprandial lipemia. Lipids Health Dis. 2005; 4:24.
  27. Brandou F et al. Impact of high- and low-intensity targeted exercise training on the type of substrate utilization in obese boys submitted to a hypocaloric diet. Diabetes Metab. 2005; 31(4 Pt 1):327-325.
  28. Corella D et al. A High Intake of Saturated Fatty Acids Strengthens the Association between the Fat Mass and Obesity-Associated Gene and BMI. J of Nutr. 2011; 141:2219-2225.
  29. Kilpelainen 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 Medicine. 2011; 8(11):31001116.
  30. Frayling TM et al. A Common Variant in the FTO Gene is Associated with Body Mass Index and Predisposition to Childhood and Adult Obesity. Science. 2007; 316(58):889-894.
  31. Berulava T and Horsthemke B. The obesity-associated SNPs in intron 1 of the FTO gene affect primary transcript levels. Eur J Hum Genet. 2010; 18(9):1054-1058.
  32. Karra E et al. A link between FTO, ghrelin, and impaired brain food-cue responsivity. J Clin Invest. 2013; 123(8):3539-3551.
  33. Lu Y et al. Obesity genomics: assessing the transferability of susceptibility loci across diverse populations. Genome Med. 2013; 5:55.
  34. Cho YS et al. A large-scale genome-wide association study of Asian populations uncovers genetic factors influencing eight quantitative traits. Nat Genet. 2009; 41:527-534.
  35. Jaaskelainen A 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.
  36. Zhang X 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; 61:3005-3011.
  37. Ortega-Azorin C et al. Associations of the FTO rs9939609 and the MC4R rs17782313 polymorphisms with type 2 diabetes are modulated by diet, being higher when adherence to the Mediterranean diet pattern is low. Cardiovasc Diabetol. 2012; 11:137.
  38. Mitchell JA et al. FTO Genotype and the Weight Loss Benefits of Moderate Intensity Exercise. Obesity. 2010; 18(3):641-643.
  39. Lauria F et al. Prospective Analysis of the Association of a Common Variant of FTO (rs9939609) with Adiposity in Children: Results of the IDEFICS Study. PLoS One. 2012; 7: e48876.
  40. Velders FP et al. FTO at rs9939609, food responsiveness, emotional control and symptoms of ADHD in preschool children. PLoS One. 2012; 7:e49131.
  41. Wardle J et al. Obesity associated genetic variation in FTO is associated with diminished satiety. J Clin Endocrinol Metab. 2008; 93:3640–3643.
  42. den Hoed M et al. Postprandial responses in hunger and satiety are associated with the rs9939609 single nucleotide polymorphism in FTO. Am J Clin Nutr. 2009; 90:1426–1432.
  43. Loos RJF et al. Common variants near MC4R are associated with fat mass, weight and risk of obesity. Nat Genet. 2008; 40(6):768-775.
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COMT

  1. Agata R. et al. The MAOA, COMT, MTHFR and ESR1 gene polymorphisms are associated with the risk of depression in menopausal women. Maturitas 2016; 84:42–54.
  2. Crooke P et al. Estrogens, Enzyme Variants, and Breast Cancer: A Risk Model. Cancer Epidemiol Biomarkers Prev 2006; 15(9):1620-9.
  3. Lachman H et al. Human catechol-O-methyltransferase pharmacogenetics: description of a functional polymorphism and its potential application to neuropsychiatric disorders. Pharmacogenetics 1996; 6:243-250.
  4. Weinshilboum R et al. Methylation Pharmacogenetics: Catechol-O methyltransferase, Thiopurine Methyltransferase, and Histamine N-Methyltransferase. Annu. Rev. Pharmacol. Toxicol. 1999; 39:19-52.
  5. Mannisto P and S Kaakkola. Catechol-O-methyltransferase (COMT): Biochemistry, Molecular Biology, Pharmacology, and Clinical Efficacy of the New Selective COMT Inhibitors. Pharm Rev. 1999; 51(4):594-622.
  6. Dawling S et al. Catechol-O-Methyltransferase (COMT)-mediated Metabolism of Catechol Estrogens: Comparison of Wild-Type and Variant COMT Isoforms. Cancer Res. 2001; 61:6716-6722.
  7. Mier D et al. Neural substrates of pleiotropic action of genetic variation in COMT: a meta-analysis. Molecular Psychiatry 2010; 15:918-927.
  8. Goldman D et al. The Genetics of Addictions: Uncovering the Genes. Nat Rev Genet. 2005; 6(7):521-532.
  9. Yuferov V et al. Search for Genetic Markers and Functional Variants Involved in the Development of Opiate and Cocaine Addiction, and Treatment. Ann N Y Acad Sci. 2010; 1187:184-207.
  10. Schellekens AF et al. COMT Val158Met modulates the effect of childhood adverse experiences on the risk of alcohol dependence. Addict Biol. 2013; 18(2):344-356.
  11. Bhakta SG et al. The COMT Met158 allele and violence in schizophrenia: a meta-analysis. Schizophr Res. 2012; 140(1-3):192-197.
  12. Godar SC and M Bortolato. Gene-sex interactions in schizophrenia: focus on dopamine neurotransmission. Front Behav Neurosci. 2014; 8:71.
  13. Pooley EC et al. The met158 allele of catechol-o-methyltransferase (COMT) is associated with obsessive-compulsive disorder in men: case-control study and meta-analysis. Mol Psych. 2007; 12:556-551.
  14. Konishi Y et al. Genexgenexgender interaction of BDNF and COMT genotypes associated with panic disorder. Prog Neuropsychopharmacol Biol Psychiatry. 2014; 51:119-125.
  15. Kolassa IT et al. The risk of posttraumatic stress disorder after trauma depends on traumatic load and the catechol-o-methyltransferase Val(158)Met polymorphism. Biol Psychiatry. 2010; 67(4):304-308.
  16. Lee SY et al. COMT and BDNF interacted in bipolar II disorder not comorbid with anxiety disorder. Behav Brain Res. 2013; 237:243-248.
  17. Zhang Z. The Val/Met functional polymorphism in COMT confers susceptibility to bipolar disorder: evidence from an association study and a meta-analysis. J Neural Transm. 2009; 116(10):1193-200.
  18. Janicki PK. Pharmacogenetics of Pain Management. Comprehensive Treatment of Chronic Pain by Medical, Interventional, and Integrative Approaches. Edited by TR Deers. American Academy of Pain Medicine. 2013.
  19. Zubieta JK et al. COMT val158met Genotype Affects mu-opioid Neurotransmitter Responses to a Pain Stressor. Science. 2003; 299(5610):1240-1243.
  20. Klepstad P et al. Genetic variability and clinical efficacy of morphine. Acta Anasthesiol Scand. 2005; 49:902-908.
  21. Mannisto PT and S Kaakkola. Catechol-O-methyltransferase (COMT): Biochemistry, Molecular Biology, Pharmacology, and Clinical Efficacy of the New Selective COMT Inhibitors. Pharm Rev. 1999; 51(4):594-622.
  22. Corvol JC et al. The COMT Val158Met polymorphism affects the response to entacapone in Parkinson’s disease: a randomized crossover clinical trial. Ann Neurol. 2011; 69(1):111-118.
  23. Ball P and R Knuppen. Catecholoestrogens (2-and 4-hydroxyoestrogens): chemistry, biogenesis, metabolism, occurrence and physiological significance. Acta Endocrinol. Suppl. 1980; 232:1-127.
  24. Lakhani NJ et al. 2-Methoxyestradiol, a Promising Anticancer Agent. Pharmacotherapy. 2003; 23:165-172.
  25. Lavigne JA et al. The Effects of Catechol-O-Methyltransferase Inhibition on Estrogen Metabolite and Oxidative DNBA Damage Levels in Estradiol-treated MCF-7 Cells. Cancer Research. 2001; 61:7488-7494.
  26. Worda C et al. Influence of the catechol-O-methyltransferase (COMT) codon 158 polymorphism on estrogen levels in women. Human Reproduction. 2003; 18(2):262-266.
  27. Eriksson AL et al. The COMT val158met polymorphism Is Associated with Early Pubertal Development, Height and Cortical Bone Mass in Girls. Pediatr Res. 2005; 58(1):71-77.
  28. Masurier M et al. Effect of Acute Tyrosine Depletion in Using a Branched Chain Amino-Acid Mixture on Dopamine Neurotransmission in the Rat Brain. Neuropsychopharmacology. 2006; 31(2):310-317.
  29. Sarris J et al. S-adenosyl methionine (SAMe) versus escitalopram and placebo in major depression RCT: Efficacy and effects of histamine and carnitine as moderators of response. J Affect Disord. 2014; 164:76-81.
  30. Kennedy D et al. Effects of high-dose B vitamin complex with vitamin C and minerals on subjective mood and performance in healthy males. Psychopharmacology (Berl). 2010; 211(1):55-68.
  31. Li Y et al. Functional and structural comparisons of cysteine residues in the Val108 wild type and Met108 variant of human soluble catechol O-methyltransferase. Chem Biol Interact. 2005; 152(2-3):151-163.
  32. Fava M et al. Rapidity of onset of the antidepressant effect of parenteral S-adenosyl-l-methionine. Psychiatry Res. 1995; 56(3):295-297.
  33. Jeffery DR and JA Roth. Kinetic reaction mechanism for magnesium binding to membrane-bound and soluble catechol O-methyltransferase. Biochem. 1987; 26(10):2955-2958.
  34. Sowa-Kucma M et al. Zinc, magnesium and NMDA receptor alterations in the hippocampus of suicide victims. J Affect Disord. 2013; 151(3):924-931.
  35. Basheer MP et al. A study of serum magnesium, calcium and phosphorus level, and cognition in the elderly population of South India. Alexandria J Med. 2016; 52(4):303-308.
  36. Yary T et al. Dietary magnesium intake and the incidence of depression: A 20 year follow-up study. J Affect Disord. 2016; 193:94-98.
  37. Haan MN et al. Homocysteine, B vitamins, and the incidence of dementia and cognitive impairment: Results from the Sacramento Area Latino Study on Aging. Am J Clin Nutr. 2007; 85(2):511-517.
  38. Smith AD et al. Homocysteine-lowering by B vitamins slows the rate of accelerated brain atrophy in mild cognitive impairment: A randomized controlled trial. PLoS One. 2010; 5(9):1-10.
  39. Mitchell ES et al. B vitamin polymorphisms and behavior: Evidence of associations with neurodevelopment, depression, schizophrenia, bipolar disorder and cognitive decline. Neurosci Biobehav Rev. 2014; 47:307-320.
  40. Hiroi T et al. Dopamine formation from tyramine by CYP2D6. Biochem Biophys Res Commun. 1998; 249(3):838-843.
  41. Zhu ZT et al. Tyramine excites rat subthalamic neurons in vitro by a dopamine-dependent mechanism. Neuropharmacology. 2007; 52(4):1169-1178.
  42. Burchett SA et al. The mysterious trace amines: Protean neuromodulators of synaptic transmission in mammalian brain. Prog Neurobiol. 2006; 79:223-246.
  43. Papaleo F et al. Sex-dichotomous effects of functional COMT genetic variations on cognitive functions disappear after menopause in both health and schizophrenia. Eur Neuropsychopharmacol. 2015; 25(12):2349-2363.
  44. Almey A et al. Estrogen receptors in the central nervous system and their implication for dopamine-dependent cognition in females. Horm Behav. 2015; 74:125-138.
  45. McCann S et al. Changes in 2-hydroxyestrone and 16α-hydroxyestrone metabolism with flaxseed consumption: Modification by COMT and CYP1B1 genotype. Cancer Epidemiol Biomarkers Prev. 2007; 16(2):256-262.
  46. Rižner TL. Estrogen biosynthesis, phase I and phase II metabolism, and action in endometrial cancer. Mol Cell Endocrinol. 2013; 381(1-2):124-139.
  47. Masurier M et al. Effect of Acute Tyrosine Depletion in Using a Branched Chain Amino-Acid Mixture on Dopamine Neurotransmission in the Rat Brain. 2006; 31(2):310-317.
  48. Fernstrom HD and MH Fernstrom. Tyrosine, Phenylalanine, and Catecholamine Synthesis and Function in the Brain. J. Nutr. 2007; 137(6):1539S-1547S.
  49. Reus G et al. Kynurenine pathway dysfunction in the pathophysiology and treatment of depression: Evidences from animal and human studies. J Psychiatr Res. 2015; 68:316-328.
  50. Jangid P et al. Comparative study of efficacy of l-5-hydroxytryptophan and fluoxetine in patients presenting with first depressive episode. Asian J Psychiatr. 2013; 6(1):29-34.
  51. Lowe S et al. L-5-Hydroxytryptophan augments the neuroendocrine response to a SSRI. Psychoneuroendocrinology. 2006; 31(4):473-484.
  52. Lardner A et al. Neurobiological effects of the green tea constituent theanine and its potential role in the treatment of psychiatric and neurodegenerative disorders. Nutritional Neuroscience. 2014; 17(4):145-155.
  53. Mu W et al. An overview of biological production of L-theanine. Biotechnol Adv. 2015; 33(3-4):335-342.
  54. Kakuda T. Neuroprotective effects of theanine and its preventive effects on cognitive dysfunction. Pharmacol Res. 2011; 64(2):162-168.
  55. Tian X et al. Protective effect of l-theanine on chronic restraint stress-induced cognitive impairments in mice. Brain Res. 2013; 1503:24-32.
  56. Martínez-Banaclocha M et al. N-acetyl-cysteine in the treatment of Parkinson’s disease. What are we waiting for? Med Hypotheses. 2012; 79(1):8-12.
  57. Dean O. et al. N-acetyl cysteine restores brain glutathione loss in combined 2-cyclohexene-1-one and d-amphetamine-treated rats: Relevance to schizophrenia and bipolar disorder. Neurosci Lett. 2011; 499(3):149-153.
  58. Botsakis K et al. 17β-Estradiol/N-acetylcysteine interaction enhances the neuroprotective effect on dopaminergic neurons in the weaver model of dopamine deficiency. Neuroscience. 2016; 320:221-229.
  59. Tunbridge E et al. Polymorphisms in the catechol‐O‐methyltransferase (COMT) gene influence plasma total homocysteine levels. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 147.6 (2008):996-999.
  60. Paul R and A. Borah. The potential physiological crosstalk and interrelationship between two sovereign endogenous amines, melatonin and homocysteine. Life Sci. 2015; 139:97-107.
  61. Hursel R et al. The Role of Catechol-o-Methyl Transferase Val (108/158) MET Polymorphism (rs4680) in the effect of Green Tea on Resting Energy Expenditure and Fat Oxidation: A Pilot Study. 2014; 9(9): e106220.
  62. Lorenz M et al. The activity of catechol-O-methyltransferase (COMT) is not impaired by high doses of epigallocatechin-3-gallate (EGCG) in vivo. Eur J Pharmacol. 2014; 740: 645-651.
  63. Kang K et al. Beneficial effects of natural phenolics on levodopa methylation and oxidative neurodegeneration. Brain Res. 2013; 1497:1-14.
  64. Kang K et al. Dual beneficial effects of (-)-epigallocatechin-3-gallate on levodopa methylation and hippocampal neurodegeneration: In vitro and in vivo studies. PLoS One. 2010; 5(8): e11951.
  65. Xie X et al. Adenosine and dopamine receptor interactions in striatum and caffeine-induced behavioral activation. Comp Med. 2007; 57(6):538-545.
  66. Witte A et al. COMT Val158Met polymorphism modulates cognitive effects of dietary intervention. Front Aging Neurosci. 2010; 2:146.
  67. Voelcker-Rehage C et al. COMT gene polymorphisms, cognitive performance, and physical fitness in older adults. Psychol Sport Exerc. 2015; 20:20-28.
  68. Zhu BT et al. Effects of tea polyphenols and flavonoids on liver microsomal glucuronidation of estradiol and estrone. J Steroid Biochem Mol Biol. 1998; 64(3-4):207-215.
  69. Moon YJ et al. Dietary flavonoids: Effects on xenobiotic and carcinogen metabolism. Toxicol Vitr. 2006; 20 (2): 187-210.
  70. Ullah N et al. Green tea phytocompounds as anticancer: A review. Asian Pacific J Trop Dis. 2016; 6(4):330-336.

Mood Profile

  1. Lachman H et al. Human catechol-O-methyltransferase pharmacogenetics: description of a functional polymorphism and its potential application to neuropsychiatric disorders. Pharmacogenetics 1996; 6:243-250.
  2. Weinshilboum R et al. Methylation Pharmacogenetics: Catechol-O methyltransferase, Thiopurine Methyltransferase, and Histamine N-Methyltransferase. Annu. Rev. Pharmacol. Toxicol. 1999; 39:19-52.
  3. Genetics Home Reference. Genes: COMT. http://ghr.nlm.nih.gov/gene/COMT.
  4. Mier D et al. Neural substrates of pleiotropic action of genetic variation in COMT: a meta-analysis. Molecular Psychiatry. 2010; 15:918-927.
  5. Lester K et al. Therapygenetics: Using genetic markers to predict response to psychological treatment for mood and anxiety disorders. Biology of Mood & Anxiety Disorders. 2013; 3:4.
  6. Cheng JB et al. Genetic evidence that the human CYP2R1 enzyme is a key vitamin D 25-hydroxylase. Proc Natl Acad Sci U S A. 2004; 101:7711–7715.
  7. Ahn J et al. Genome-wide association study of circulating vitamin D levels. Human Molecular Genetics. 2010; 19(13): 2739-2745.
  8. Nissen J et al. Vitamin D Concentrations in Healthy Danish Children and Adults. PLOS One. 2014; 9(2):e89907.
  9. Harris HW et al. Supplementation might help patients with depression, seasonal mood disturbances. Current Psych. 2013; 12(4):19-25.
  10. Houssein-Nezhad A et al. Vitamin D for Health: A Global Perspective. Mayo Clin. Proc. 2013; 88(7):720-755.
  11. Kelly RJ et al. Sequence and expression of a candidate for the human Secretor blood group alpha (1,2)fucosyltransferase gene (FUT2). Homozygosity for an enzyme-inactivating nonsense mutation commonly correlates with the non-secretor phenotype. J Biol Chem. 1995; 270:4640–4649.
  12. Hazra A et al. Genome-wide significant predictors of metabolites in the one-carbon metabolism pathway. Hum Mol Gen. 2009; 18(23):4677-4687.
  13. Semmes BJ. Depression: a role for omega-3 fish oils and B vitamins? Evid. Based Integr. Med. 2005; 2:229–237.
  14. Tiemeier H et al. Vitamin B12, Folate, and Homocysteine in Depression: The Rotterdam Study. Am J Psychiatry. 2002; 159:2099-2101.
  15. Frankenburg, FR. The role of one-carbon metabolism in schizophrenia and depression. Harv. Rev. Psychiatry. 2007; 15:146–160.
  16. Seppälä et al. Association between vitamin b12 levels and melancholic depressive symptoms: a Finnish population-based study. BMC Psychiatry 2013;13:145.
  17. Tanaka T et al. Genome-wide Association Study of Vitamin B6, Vitamin B12, Folate, and Homocysteine Blood Concentrations. The American Journal of Human Genetics. 2009; 84:477-482.
  18. Gozdzik A et al. Association of vitamin D binding protein (VDBP) polymorphisms and serum 25(OH)D concentrations in a sample of young Canadian adults of different ancestry. J Steroid Biochem Mol Biol. 2011; 127:405–412.
  19. Ahn J et al. Genome-wide association study of circulating vitamin D levels. Human Molecular Genetics. 2010; 19(13) 2739-2745.
  20. Nissen J et al. Vitamin D Concentrations in Healthy Danish Children and Adults. PLOS One. 2014; 9(2):e89907.
  21. Foucan L et al. Polymorphisms in GC and NADSYN1 Genes are associated with vitamin D status and metabolic profile in non-diabetic adults. BMC Endocrine Disorders. 2013; 13:36.
  22. Wang T et al. Common genetic determinants of vitamin D insufficiency: a genome-wide association study. Lancet. 2010; 376(9736):180-188.
  23. Grober U et al. Vitamin D: Update 2013: From rickets prophylaxis to general preventive healthcare. Dermato-Endocrinology. 2013; 5(3):331-47.
  24. Bischoff-Ferrari HA et al. A pooled analysis of vitamin D dose requirements for fracture prevention. N Engl J Med. 2012; 367:40–9.
  25. Bjelland I et al. Folate, Vitamin B12, Homocysteine, and the MTHFR 677CT Polymorphism in Anxiety and Depression: The Hordaland Homocysteine Study. Arch Gen Psychiatry. 2003; 60(6):618-626.
  26. Beydoun MA et al. Serum folate, vitamin B-12 and homocysteine and their association with depressive symptoms among US adults. Psychosom Med. 2010;72(9):862-873.
  27. Refsum H et al. The Hordaland Homocysteine Study: A Community-Based Study of Homocysteine, Its Determinants, and Associations with Disease. J Nutr. 2006; 136:1731S-1740S.
  28. Frosst P et al. A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nat Genet. 1995; 10:111–113.
  29. Lewis SJ et al. The thermolabile variant of MTHFR is associated with depression in the British Women’s Heart and Health Study and a meta-analysis. Molecular Psychiatry. 2006; 11:352-360.
  30. Van der Put NM et al. A second common mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neural-tube defects? Am J Hum Genet. 1998; 62(5):1044–51.
  31. Weisberg I et al. A second genetic polymorphism in methylenetetrahydrofolate reductase (MTHFR) associated with decreased enzyme activity. Mol Genet Metab. 1998; 64:169–72.
  32. Nurk E et al. Plasma Total Homocysteine and Memory in the Elderly: The Hordaland Homocysteine Study. Ann Neurol. 2005; 58:847-857.
  33. Rajagopalan P et al. Common folate gene variant, MTHFR C677T, is associated with brain structure in two independent cohorts of people with mild cognitive impairment. Neuroimage Clin. 2012; 1(1):179-187. 179-187.
  34. Lewis SJ et al. The thermolabile variant of MTHFR is associated with depression in the British Women’s Heart and Health Study and a meta-analysis. Molecular Psychiatry. 2006; 11:352-360.
  35. Gilbody S et al. Methylenetetrahydrofolate Reductase (MTHFR) Genetic Polymorphisms and Psychiatric Disorders: A HuGE Review. Am J Epidemiol. 2007;165:1-13.

MTHFR

  1. Cheng Y, Liu S, Chen D, et al. Association between serum 5‑methyltetrahydrofolate and homocysteine in Chinese hypertensive participants with different MTHFR C677T polymorphisms: a cross‑sectional study. Nutrition Journal. 2022;21:29.
  2. Luo Z, Lu Z, Muhammad I, et al. Associations of the MTHFR rs1801133 polymorphism with coronary artery disease and lipid levels: a systematic review and updated meta-analysis. Lipids in Health and Disease. 2018;17:191.
  3. Van der Put NM et al. A second common mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neural-tube defects? Am J Hum Genet. 1998; 62(5):1044–51.
  4. Wagner C. Biochemical role of folate in cellular metabolism. In: Bailey LB, editor. Folate in health and disease. New York, NY: Marcel Dekker Inc.; 1995. p. 23–42.
  5. Bailey LB and JF Gregory III. Polymorphisms of Methylenetetrahydrofolate Reductase and Other Enzymes: Metabolic Significance, Risks and Impact on Folate Requirement. J Nutr. 1999; 129(5):919-22.
  6. Stover PJ. Polymorphisms in 1-Carbon Metabolism, Epigenetics and Folate-Related Pathologies. J. Nutrigenet Nutrigenomics. 2012; 4(5):293-305.
  7. Refsum H et al. The Hordaland Homocysteine Study: A Community-Based Study of Homocysteine, Its Determinants, and Associations with Disease. J Nutr. 2006; 136:1731S-1740S.
  8. Frosst P et al. A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nat Genet. 1995; 10:111–113.
  9. Weisberg I et al. A second genetic polymorphism in methylenetetrahydrofolate reductase (MTHFR) associated with decreased enzyme activity. Mol Genet Metab. 1998; 64:169–72.
  10. Teng Z. The 677C>T (rs1801133) polymorphism in the MTHFR gene contributes to colorectal cancer risk: a meta-analysis based on 71 research studies. PLoS One. 2013; 8(2):e55332.
  11. Yang L, et al. Impact of methylenetetrahydrofolate reductase (MTHFR) polymorphisms on methotrexate-induced toxicities in acute lymphoblastic leukemia: a meta-analysis. Tumor Biol. 2012; 33(5):1445–54.
  12. Bjelland I et al. Folate, Vitamin B12, Homocysteine, and the MTHFR 677CT Polymorphism in Anxiety and Depression: The Hordaland Homocysteine Study. Arch Gen Psychiatry. 2003; 60(6):618-626.
  13. Beydoun MA et al. Serum folate, vitamin B-12 and homocysteine and their association with depressive symptoms among US adults. Psychosom Med. 2010; 72(9):862-873.
  14. Nurk E et al. Plasma Total Homocysteine and Memory in the Elderly: The Hordaland Homocysteine Study. Ann Neurol. 2005; 58:847-857.
  15. Rajagopalan P et al. Common folate gene variant, MTHFR C677T, is associated with brain structure in two independent cohorts of people with mild cognitive impairment. Neuroimage Clin. 2012; 1(1):179-187. 179-187.
  16. Cotlarciuc I et al. Effect of genetic variants associated with plasma homocysteine levels on stroke risk. Stroke. 2014; 45(7):1920-4.
  17. Refsum H et al. The Hordaland Homocysteine Study: A community- based study of homocysteine, its determinants, and associations with disease. The Journal of Nutrition. 2006; 136:1731S-1740S.
  18. Simpson J et al. Micronutrients and women of reproductive potential: required dietary intake and consequences of dietary deficiency or excess. Part I – Folate, Vitamin B12, Vitamin B6. J Matern Fetal Neonatal Med. 2011; 24(1):1-24.
  19. NIH: Office of Dietary Supplements. Folate. http://ods.od.nih.gov/factsheets/Folate-HealthProfessional/
  20. Pietrzrik K. Folic acid and L-5-Methyltetrahydrofolate: Comparison of Clinical Pharmacokinetics and Pharmacodynamics. Cln Pharmacokinet. 2010; 49(8):535-548.
  21. Jain R et al. Beyond the resistance: how novel neurobiological understandings of depression may lead to advanced treatment strategies. J Clin Psychiatry. 2012; 73(11):e30.
  22. Soleimani A et al. Comparison of oral folic acid and folinic acid on blood homocysteine level of patients on hemodialysis. Iran J Kidney Dis. 2011: 5(1):45-9.
  23. Chen Z et al. Purification and Kinetic Mechanism of a Mammalian Methionine Synthase from Pig Liver. J Biol Chem. 1994; 269(44):27193-27197.
  24. Ho G et al. Methylenetetrahydrofolate Reductase Polymorphisms and Homocysteine-Lowering Effect of Vitamin Therapy in Singaporean Stroke Patients. Stroke. 2006; 37:456-460.
  25. Chen X et al. Contrasting behaviors of mutant cystathionine beta-synthase enzymes associated with pyridoxine response. Hum Mutat. 2006; 275(5):474-482.
  26. Dell’Edera D et al. Effect of multivitamins on plasma homocysteine in patients with the 5,10 methylenetetrahydrofolate reductase C677T homozygous state. Molecular Medicine Reports. 2013; 8:609-612.
  27. Betaine: Drug Information. http://www.uptodate.com/contents/betaine-drug-information?source=search_result&search=betaine&selectedTitle=1~9
  28. Lawson-Yuen A eta l. The use of betaine in treatment of elevated homocysteine. Mol Genet Metab. 2006; 88(3):201-207.
  29. Hultberg B et al. Plasma homocysteine and thiol compound fractions after oral administration of N-acetylcysteine. Scand J Clin Lab Invest. 1994; 54:417–422.

Nutritional Health

  1. Ferrucci L et al. “Common Variation in the B-Carotene 15, 15’-Monooxygenase 1 Gene Affects Circulating Levels of Carotenoids: A Genome-wide Association Study.” The American Journal of Human Genetics. 2009; 84, 123-133.
  2. Borel P et al. “Genetic Variations Involved in Interindividual Variability in Carotenoid Status.” Mol Nutr Food Res. 2012; 56(2): 228-40.
  3. Wyss A et al. Expression pattern and localization of β,β-carotene 15,15′-dioxygenase in different tissues. Biochem. J. 2001; 354:521–529.
  4. Lietz G et al. “Single Nucleotide Polymorphisms Upstream from the B-Carotene 15, 15’-Monoxygenase Gene Influence Provitamin A Conversion Efficiency in Female Volunteers.” J. Nutr. 2012; 142(1):161S-165S.
  5. Cheng JB et al. Genetic evidence that the human CYP2R1 enzyme is a key vitamin D 25-hydroxylase. Proc Natl Acad Sci U S A. 2004; 101:7711–7715.
  6. Ahn J et al. Genome-wide association study of circulating vitamin D levels. Human Molecular Genetics. 2010; 19(13): 2739-2745.
  7. Nissen J et al. Vitamin D Concentrations in Healthy Danish Children and Adults. PLOS One. 2014; 9(2):e89907.
  8. Harris HW et al. Supplementation might help patients with depression, seasonal mood disturbances. Current Psych. 2013; 12(4):19-25.
  9. Houssein-Nezhad A et al. Vitamin D for Health: A Global Perspective. Mayo Clin. Proc. 2013; 88(7):720-755.
  10. Holick MF and M Garabedian. Vitamin D: photobiology, metabolism, mechanism of action, and clinical applications. In: Favus MJ, ed. Primer on the metabolic bone diseases and disorders of mineral metabolism. 6th ed. Washington, DC: American Society for Bone and Mineral Research. 2006; 129-137.
  11. Lips P and NM van Schoor. The effect of vitamin D on bone and osteoporosis. Best Pract Res Clin Endocrinol Metab. 2011; 25:585–591.
  12. Wang T et al. Common genetic determinants of vitamin D insufficiency: a genome-wide association study. Lancet. 2010; 376(9736):180-188.
  13. Bischoff-Ferrari HA et al. A pooled analysis of vitamin D dose requirements for fracture prevention. N Engl J Med. 2012; 367:40–9.
  14. Grober U et al. Vitamin D: Update 2013: From rickets prophylaxis to general preventive healthcare. Dermato-Endocrinology. 2013; 5(3):331-47.
  15. Kelly RJ et al. Sequence and expression of a candidate for the human Secretor blood group alpha (1,2)fucosyltransferase gene (FUT2). Homozygosity for an enzyme-inactivating nonsense mutation commonly correlates with the non-secretor phenotype. J Biol Chem. 1995; 270:4640–4649.
  16. Hazra A et al. Genome-wide significant predictors of metabolites in the one-carbon metabolism pathway. Hum Mol Gen. 2009; 18(23):4677-4687.
  17. Semmes BJ. Depression: a role for omega-3 fish oils and B vitamins? Evid. Based Integr. Med. 2005; 2:229–237.
  18. Tiemeier H et al. Vitamin B12, Folate, and Homocysteine in Depression: The Rotterdam Study. Am J Psychiatry. 2002; 159:2099-2101.
  19. Frankenburg, FR. The role of one-carbon metabolism in schizophrenia and depression. Harv. Rev. Psychiatry. 2007; 15:146–160.
  20. Seppälä et al. Association between vitamin b12 levels and melancholic depressive symptoms: a Finnish population-based study. BMC Psychiatry 2013; 13:145.
  21. Tanaka T et al. Genome-wide Association Study of Vitamin B6, Vitamin B12, Folate, and Homocysteine Blood Concentrations. The American Journal of Human Genetics. 2009; 84:477-482.
  22. Hazra A et al. Common variants of FUT2 are associated with plasma vitamin B12 levels. Nat. Genet. 2008; 40:1160–1162.
  23. http://lpi.oregonstate.edu/infocenter/vitamins/vitaminB12/.
  24. Gozdzik A et al. Association of vitamin D binding protein (VDBP) polymorphisms and serum 25(OH)D concentrations in a sample of young Canadian adults of different ancestry. J Steroid Biochem Mol Biol. 2011; 127:405–412.
  25. Ahn J et al. Genome-wide association study of circulating vitamin D levels. Human Molecular Genetics. 2010; 19(13) 2739-2745.
  26. Nissen J et al. Vitamin D Concentrations in Healthy Danish Children and Adults. PLoS One. 2014; 9(2):e89907.
  27. Foucan L et al. Polymorphisms in GC and NADSYN1 Genes are associated with vitamin D status and metabolic profile in non-diabetic adults. BMC Endocrine Disorders. 2013; 13:36.
  28. Wang T et al. Common genetic determinants of vitamin D insufficiency: a genome-wide association study. Lancet. 2010; 376(9736):180-188.
  29. Grober U et al. Vitamin D: Update 2013: From rickets prophylaxis to general preventive healthcare. Dermato-Endocrinology. 2013; 5(3):331-47.
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PGX Comprehensive

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  2. Botton MR, Whirl-Carrilo M, Del Tredici AL, et al. PharmVar GeneFocus: CYP2C19. Clin Pharmacol Ther. 2021;109(2):352-366.
  3. Thiele LS, Ishtiak-Ahmed K, Thirstrup JP, et al. Clinical Impact of Functional CYP2C19 and CYP2D6 Gene Variants on Treatment with Antidepressants in Young People with Depression: A Danish Cohort Study. Pharmaceuticals. 2022;15:870.
  4. Nofziger C, Turner AJ, Sangkuhl K, et al. PharmVar GeneFocus: CYP2D6. Clin Pharmacol Ther. 2020;107(1):154-170
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  8. Hicks JK et al. Clinical Pharmacogenetics Implementation Consortium guideline for CYP2D6 and CYP2C19 genotypes and dosing of tricyclic antidepressants. Clin Pharmacol Ther. 2013; 93(5):402-8.
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  22. Refsum H et al. The Hordaland Homocysteine Study: A Community-Based Study of Homocysteine, Its Determinants, and Associations with disease. J Nutr. 2006; 136:1731S-1740S.
  23. Rush AJ et al. Acute and Longer-Term Outcomes in Depressed Outpatients Requiring One or Several Treatment Steps: A STAR*D Report. 2006; 163:1905-1917.
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  25. Samer CF et al. Applications of CYP450 testing in the clinical setting. Mol Diagn Ther. 2013; 17(3):165-84.
  26. Scott S et al. Clinical Pharmacogenetics Implementation Consortium guidelines for cytochrome P450-2C19 (CYP2C19) genotype and clopidogrel therapy. Clin Pharmacol Ther. 2011; 90(2):328-332.
  27. Shaheen K et al. Factor V Leiden: how great is the risk of venous thromboembolism? Cleve Clin J Med. 2012; 79(4):265-72.
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  37. Zandi PP and Judy JT. The Promise and Reality of Pharmacogenetics in Psychiatry. Psychiatr Clin North Am. 2010;33(1):181-224.

Weight Management

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  19. Weiss EP et al. FABP2 Ala54Thr genotype is associated with glucoregulatory function and lipid oxidation after a high-fat meal in sedentary nondiabetic men and women. Am J Clin Nutr. 2007; 85:102-108.
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  26. Frayling TM et al. A Common Variant in the FTO Gene is Associated with Body Mass Index and Predisposition to Childhood and Adult Obesity. Science. 2007; 316(58):889-894.
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  32. Zhang X 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; 61:3005-3011.
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  36. Velders FP et al. FTO at rs9939609, food responsiveness, emotional control and symptoms of ADHD in preschool children. PLoS One. 2012; 7:e49131.
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  38. den Hoed M et al. Postprandial responses in hunger and satiety are associated with the rs9939609 single nucleotide polymorphism in FTO. Am J Clin Nutr. 2009; 90:1426–1432.
  39. Loos RJF et al. Common variants near MC4R are associated with fat mass, weight and risk of obesity. Nat Genet. 2008; 40(6):768-775.
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  41. Xi B et al. Common polymorphism near the MC4R gene is associated with type 2 diabetes: data from a meta-analysis of 123,373 individuals. Diabetologia 2012; 55:2660–2666.
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