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Genetics in Cardiovascular Behavioral Medicine

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Handbook of Cardiovascular Behavioral Medicine
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Abstract

Numerous traits of interest in cardiovascular behavioral medicine reflect a complex interplay of genetic and environmental factors. In this chapter, we describe genetics and epigenetics, illustrated with examples of discoveries relevant to cardiovascular disease and its behavioral risk factors. We further discuss how genetic background interacts with environmental exposures and highlight examples of replicated gene x environment interaction. Finally, we discuss the principles of precision medicine and discuss the potential for leveraging genetic or epigenetic background to improve behavioral treatments.

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References

  1. Altshuler D, Brooks LD, Chakravarti A, Collins FS, Daly MJ et al (2005) A haplotype map of the human genome. Nature 437:1299–1320

    Article  Google Scholar 

  2. Andreasen CH, Stender-Petersen KL, Mogensen MS, Torekov SS, Wegner L et al (2008) Low physical activity accentuates the effect of the FTO rs9939609 polymorphism on body fat accumulation. Diabetes 57:95–101

    Article  PubMed  Google Scholar 

  3. Ball K, Owen N, Salmon J, Bauman A, Gore CJ (2001) Associations of physical activity with body weight and fat in men and women. Int J Obes Relat Metab Disord 25:914–919

    Article  PubMed  Google Scholar 

  4. Behrouz B, Vilarino-Guell C, Heckman MG, Soto-Ortolaza AI, Aasly JO et al (2010) Mitochondrial translation initiation factor 3 polymorphism and Parkinson’s disease. Neurosci Lett 486:228–230

    Article  PubMed  Google Scholar 

  5. Belsky J, Pluess M (2009) Beyond diathesis stress: differential susceptibility to environmental influences. Psychol Bull 135:885–908

    Article  PubMed  Google Scholar 

  6. Belsky J, Jonassaint C, Pluess M, Stanton M, Brummett B et al (2009) Vulnerability genes or plasticity genes? Mol Psychiatry 14:746–754

    Article  PubMed  PubMed Central  Google Scholar 

  7. Bierut LJ (2010) Convergence of genetic findings for nicotine dependence and smoking related diseases with chromosome 15q24-25. Trends Pharmacol Sci 31:46–51

    Article  PubMed  Google Scholar 

  8. Bierut LJ, Stitzel JA, Wang JC, Hinrichs AL, Grucza RA et al (2008) Variants in nicotinic receptors and risk for nicotine dependence. Am J Psychiatry 165:1163–1171

    Article  PubMed  PubMed Central  Google Scholar 

  9. Brownson RC, Boehmer TK, Luke DA (2005) Declining rates of physical activity in the United States: what are the contributors? Annu Rev Public Health 26:421–443

    Article  PubMed  Google Scholar 

  10. Carpenter MJ, Strange C, Jones Y, Dickson MR, Carter C et al (2007) Does genetic testing result in behavioral health change? Changes in smoking behavior following testing for alpha-1 antitrypsin deficiency. Ann Behav Med 33:22–28

    Article  PubMed  Google Scholar 

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

    Article  PubMed  Google Scholar 

  12. Chan CB, Spangler E, Valcour J, Tudor-Locke C (2003) Cross-sectional relationship of pedometer-determined ambulatory activity to indicators of health. Obes Res 11:1563–1570

    Article  PubMed  Google Scholar 

  13. Cole SW, Arevalo JM, Takahashi R, Sloan EK, Lutgendorf SK et al (2010) Computational identification of gene-social environment interaction at the human IL6 locus. Proc Natl Acad Sci U S A 107:5681–5686

    Article  PubMed  PubMed Central  Google Scholar 

  14. Cordell HJ, Clayton DG (2005) Genetic association studies. Lancet 366:1121–1131

    Article  PubMed  Google Scholar 

  15. Diabetes Prevention Program Research Group (1999) The Diabetes Prevention Program. Design and methods for a clinical trial in the prevention of type 2 diabetes. Diabetes Care 22:623–634

    Article  Google Scholar 

  16. Diabetes Prevention Program Research Group (2002) Reduction in the incidence of type 2 diabetes with lifestyle intervention or metformin. N Engl J Med 346:393–403

    Article  PubMed Central  Google Scholar 

  17. Florez JC, Jablonski KA, Bayley N, Pollin TI, de Bakker PI et al (2006) TCF7L2 polymorphisms and progression to diabetes in the Diabetes Prevention Program. N Engl J Med 355:241–250

    Article  PubMed  PubMed Central  Google Scholar 

  18. Frayling TM (2007) Genome-wide association studies provide new insights into type 2 diabetes aetiology. Nat Rev Genet 8:657–662

    Article  PubMed  Google Scholar 

  19. Frayling TM, Timpson NJ, Weedon MN, Zeggini E, Freathy RM et al (2007) A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity. Science 316:889–894

    Article  PubMed  PubMed Central  Google Scholar 

  20. Grant SF, Thorleifsson G, Reynisdottir I, Benediktsson R, Manolescu A et al (2006) Variant of transcription factor 7-like 2 (TCF7L2) gene confers risk of type 2 diabetes. Nat Genet 38:320–323

    Article  PubMed  Google Scholar 

  21. Helgason A, Palsson S, Thorleifsson G, Grant SF, Emilsson V et al (2007) Refining the impact of TCF7L2 gene variants on type 2 diabetes and adaptive evolution. Nat Genet 39:218–225

    Article  PubMed  Google Scholar 

  22. Hugot JP, Chamaillard M, Zouali H, Lesage S, Cezard JP et al (2001) Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn’s disease. Nature 411:599–603

    Article  PubMed  Google Scholar 

  23. Kendler KS, Baker JH (2007) Genetic influences on measures of the environment: a systematic review. Psychol Med 37:615–626

    Article  PubMed  Google Scholar 

  24. King GA, Fitzhugh EC, Bassett DR Jr, McLaughlin JE, Strath SJ et al (2001) Relationship of leisure-time physical activity and occupational activity to the prevalence of obesity. Int J Obes Relat Metab Disord 25:606–612

    Article  PubMed  Google Scholar 

  25. Kruglyak L, Nickerson DA (2001) Variation is the spice of life. Nat Genet 27:234–236

    Article  PubMed  Google Scholar 

  26. Lerman C, Gold K, Audrain J, Lin TH, Boyd NR et al (1997) Incorporating biomarkers of exposure and genetic susceptibility into smoking cessation treatment: effects on smoking-related cognitions, emotions, and behavior change. Health Psychol 16:87–99

    Article  PubMed  Google Scholar 

  27. Lewis CE, Jacobs DR Jr, McCreath H, Kiefe CI, Schreiner PJ et al (2000) Weight gain continues in the 1990s: 10-year trends in weight and overweight from the CARDIA study. Coronary Artery Risk Development in Young Adults. Am J Epidemiol 151:1172–1181

    Article  PubMed  Google Scholar 

  28. Locke AE, Kahali B, Berndt SI, Justice AE, Pers TH et al (2015) Genetic studies of body mass index yield new insights for obesity biology. Nature 518:197–206

    Article  PubMed  PubMed Central  Google Scholar 

  29. Loos RJ, Lindgren CM, Li S, Wheeler E, Zhao JH et al (2008) Common variants near MC4R are associated with fat mass, weight and risk of obesity. Nat Genet 40:768–775

    Article  PubMed  PubMed Central  Google Scholar 

  30. Lopez-Bermejo A, Petry CJ, Diaz M, Sebastiani G, de Zegher F et al (2008) The association between the FTO gene and fat mass in humans develops by the postnatal age of two weeks. J Clin Endocrinol Metab 93:1501–1505

    Article  PubMed  Google Scholar 

  31. Maes HH, Neale MC, Eaves LJ (1997) Genetic and environmental factors in relative body weight and human adiposity. Behav Genet 27:325–351

    Article  PubMed  Google Scholar 

  32. Manolio TA, Collins FS (2009) The HapMap and genome-wide association studies in diagnosis and therapy. Annu Rev Med 60:443–456

    Article  PubMed  PubMed Central  Google Scholar 

  33. Manolio TA, Brooks LD, Collins FS (2008) A HapMap harvest of insights into the genetics of common disease. J Clin Invest 118:1590–1605

    Article  PubMed  PubMed Central  Google Scholar 

  34. Manuck SB, McCaffery JM (2014) Gene-environment interaction. Annu Rev Psychol 65:41–70

    Article  PubMed  Google Scholar 

  35. Manuck SB, McCaffery JM (2010) Genetics of stress: gene-stress correlation and interaction. In: Steptoe A (ed) Handbook of behavioral medicine: methods and applications. Springer, New York

    Google Scholar 

  36. McBride CM, Bepler G, Lipkus IM, Lyna P, Samsa G et al (2002) Incorporating genetic susceptibility feedback into a smoking cessation program for African-American smokers with low income. Cancer Epidemiol Biomark Prev 11:521–528

    Google Scholar 

  37. McCaffery JM, Papandonatos GD, Bond DS, Lyons MJ, Wing RR (2009) Gene X environment interaction of vigorous exercise and body mass index among male Vietnam-era twins. Am J Clin Nutr 89:1011–1018

    Article  PubMed  PubMed Central  Google Scholar 

  38. McGowan PO, Sasaki A, D’Alessio AC, Dymov S, Labonte B et al (2009) Epigenetic regulation of the glucocorticoid receptor in human brain associates with childhood abuse. Nat Neurosci 12:342–348

    Article  PubMed  PubMed Central  Google Scholar 

  39. Mustelin L, Silventoinen K, Pietilainen K, Rissanen A, Kaprio J (2008) Physical activity reduces the influence of genetic effects on BMI and waist circumference: a study in young adult twins. Int J Obes 33(1):29–36

    Article  Google Scholar 

  40. Neale M, Cardon LR (1992) Methodology for genetic studies of twins and families. Kluwer, Dordrecht

    Book  Google Scholar 

  41. Ogden CL, Yanovski SZ, Carroll MD, Flegal KM (2007) The epidemiology of obesity. Gastroenterology 132:2087–2102

    Article  PubMed  Google Scholar 

  42. Papandonatos GD, Pan Q, Pajewski NM, Delahanty LM, Peter I et al. (2015) Genetic predisposition to weight loss & regain with lifestyle intervention: analyses from the Diabetes Prevention Program & the Look AHEAD randomized controlled trials Diabetes 64:441–447

    Google Scholar 

  43. Plomin R, DeFries JC, Loehlin JC (1977) Genotype-environment interaction and correlation in the analysis of human behavior. Psychol Bull 84:309–322

    Article  PubMed  Google Scholar 

  44. Pluess M, Belsky J (2013) Vantage sensitivity: individual differences in response to positive experiences. Psychol Bull 139:901–916

    Article  PubMed  Google Scholar 

  45. Purcell S (2002) Variance components models for gene-environment interaction in twin analysis. Twin Res 5:554–571

    Article  PubMed  Google Scholar 

  46. Rampersaud E, Mitchell BD, Pollin TI, Fu M, Shen H et al (2008) Physical activity and the association of common FTO gene variants with body mass index and obesity. Arch Intern Med 168:1791–1797

    Article  PubMed  PubMed Central  Google Scholar 

  47. Rathouz PJ, Van Hulle CA, Rodgers JL, Waldman ID, Lahey BB (2008) Specification, testing, and interpretation of gene-by-measured-environment interaction models in the presence of gene-environment correlation. Behav Genet 38:301–315

    Article  PubMed  PubMed Central  Google Scholar 

  48. Romualdi C, Balding D, Nasidze IS, Risch G, Robichaux M et al (2002) Patterns of human diversity, within and among continents, inferred from biallelic DNA polymorphisms. Genome Res 12:602–612

    Article  PubMed  PubMed Central  Google Scholar 

  49. Ruiz JR, Labayen I, Ortega FB, Legry V, Moreno LA et al (2010) Attenuation of the effect of the FTO rs9939609 polymorphism on total and central body fat by physical activity in adolescents: the HELENA study. Arch Pediatr Adolesc Med 164:328–333

    Article  PubMed  Google Scholar 

  50. Salanti G, Sanderson S, Higgins JP (2005) Obstacles and opportunities in meta-analysis of genetic association studies. Genet Med 7:13–20

    Article  PubMed  Google Scholar 

  51. Sanderson SC, Wardle J (2005) Will genetic testing for complex diseases increase motivation to quit smoking? Anticipated reactions in a survey of smokers. Health Educ Behav 32:640–653

    Article  PubMed  Google Scholar 

  52. Seshadri S, Fitzpatrick AL, Ikram MA, DeStefano AL, Gudnason V et al (2010) Genome-wide analysis of genetic loci associated with Alzheimer disease. JAMA 303:1832–1840

    Article  PubMed  PubMed Central  Google Scholar 

  53. Sturm R (2003) Increases in clinically severe obesity in the United States, 1986–2000. Arch Intern Med 163:2146–2148

    Article  PubMed  Google Scholar 

  54. Sullivan PF, Eaves LJ, Kendler KS, Neale MC (2001) Genetic case-control association studies in neuropsychiatry. Arch Gen Psychiatry 58:1015–1024

    Article  PubMed  Google Scholar 

  55. Sweitzer MM, Halder I, Flory JD, Craig AE, Gianaros PJ et al (2013) Polymorphic variation in the dopamine D4 receptor predicts delay discounting as a function of childhood socioeconomic status: evidence for differential susceptibility. Soc Cogn Affect Neurosci 8:499–508

    Article  PubMed  Google Scholar 

  56. The Tobacco and Genetics Consortium (2010) Genome-wide meta-analyses identify multiple loci associated with smoking behavior. Nat Genet 42:441–447

    Google Scholar 

  57. Thorgeirsson TE, Gudbjartsson DF, Surakka I, Vink JM, Amin N et al (2010) Sequence variants at CHRNB3-CHRNA6 and CYP2A6 affect smoking behavior. Nat Genet 42:448–453

    Article  PubMed  PubMed Central  Google Scholar 

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

    Article  PubMed  Google Scholar 

  59. Vaisse C, Clement K, Guy-Grand B, Froguel P (1998) A frameshift mutation in human MC4R is associated with a dominant form of obesity. Nat Genet 20:113–114

    Article  PubMed  Google Scholar 

  60. Vimaleswaran KS, Li S, Zhao JH, Luan J, Bingham SA et al (2009) Physical activity attenuates the body mass index-increasing influence of genetic variation in the FTO gene. Am J Clin Nutr 90:425–428

    Article  PubMed  Google Scholar 

  61. Vink JM, Willemsen G, Boomsma DI (2005) Heritability of smoking initiation and nicotine dependence. Behav Genet 35:397–406

    Article  PubMed  Google Scholar 

  62. Wang Y, Beydoun MA (2007) The obesity epidemic in the United States – gender, age, socioeconomic, racial/ethnic, and geographic characteristics: a systematic review and meta-regression analysis. Epidemiol Rev 29:6–28

    Article  PubMed  Google Scholar 

  63. Wardle J, Carnell S, Haworth CM, Farooqi IS, O’Rahilly S et al (2008) Obesity associated genetic variation in FTO is associated with diminished satiety. J Clin Endocrinol Metab 93:3640–3643

    Article  PubMed  Google Scholar 

  64. Wardle J, Llewellyn C, Sanderson S, Plomin R (2009) The FTO gene and measured food intake in children. Int J Obes 33:42–45

    Article  Google Scholar 

  65. Weaver IC, Cervoni N, Champagne FA, D’Alessio AC, Sharma S et al (2004) Epigenetic programming by maternal behavior. Nat Neurosci 7:847–854

    Article  PubMed  Google Scholar 

  66. Welter D, MacArthur J, Morales J, Burdett T, Hall P et al (2014) The NHGRI GWAS Catalog, a curated resource of SNP-trait associations. Nucleic Acids Res 42:D1001–D1006

    Article  PubMed  Google Scholar 

  67. Willer CJ, Speliotes EK, Loos RJ, Li S, Lindgren CM et al (2009) Six new loci associated with body mass index highlight a neuronal influence on body weight regulation. Nat Genet 41:25–34

    Article  PubMed  Google Scholar 

  68. Wyatt HR, Peters JC, Reed GW, Barry M, Hill JO (2005) A Colorado statewide survey of walking and its relation to excessive weight. Med Sci Sports Exerc 37:724–730

    Article  PubMed  Google Scholar 

  69. Yang Q, Khoury MJ (1997) Evolving methods in genetic epidemiology. III. Gene-environment interaction in epidemiologic research. Epidemiol Rev 19:33–43

    Article  PubMed  Google Scholar 

  70. Yeo GS, Farooqi IS, Aminian S, Halsall DJ, Stanhope RG et al (1998) A frameshift mutation in MC4R associated with dominantly inherited human obesity. Nat Genet 20:111–112

    Article  PubMed  Google Scholar 

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Correspondence to Jeanne M. McCaffery .

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McCaffery, J.M. (2022). Genetics in Cardiovascular Behavioral Medicine. In: Waldstein, S.R., Kop, W.J., Suarez, E.C., Lovallo, W.R., Katzel, L.I. (eds) Handbook of Cardiovascular Behavioral Medicine. Springer, New York, NY. https://doi.org/10.1007/978-0-387-85960-6_31

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