Atherosclerosis
Volume 195, Issue 1 , Pages e172-e180 , November 2007

Common genetic variation in the ATP-binding cassette transporter A1, plasma lipids, and risk of coronary heart disease

  • Majken K. Jensen

      Affiliations

    • Department of Nutrition, Harvard School of Public Health, Boston, MA, United States
    • Department of Clinical Epidemiology, Aarhus University Hospital, Aalborg, Denmark
    • Department of Cardiology, Center for Cardiovascular Research, Aalborg Hospital, Aarhus University Hospital, Denmark
    • Corresponding Author InformationCorresponding author at: Department of Clinical Epidemiology, Aarhus University Hospital, Sdr. Skovvej 15, DK-9100 Aalborg, Denmark. Tel.: +45 33383765; fax: +45 33324240.
  • ,
  • Jennifer K. Pai

      Affiliations

    • Department of Nutrition, Harvard School of Public Health, Boston, MA, United States
    • Department of Epidemiology, Harvard School of Public Health, Boston, MA, United States
  • ,
  • Kenneth J. Mukamal

      Affiliations

    • Department of Medicine, Beth Israel Deaconess Medical Center, Boston, MA, United States
  • ,
  • Kim Overvad

      Affiliations

    • Department of Clinical Epidemiology, Aarhus University Hospital, Aalborg, Denmark
    • Department of Cardiology, Center for Cardiovascular Research, Aalborg Hospital, Aarhus University Hospital, Denmark
  • ,
  • Eric B. Rimm

      Affiliations

    • Department of Nutrition, Harvard School of Public Health, Boston, MA, United States
    • Department of Epidemiology, Harvard School of Public Health, Boston, MA, United States
    • Channing Laboratory, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, United States

Received 9 November 2006 ,Revised 10 January 2007 ,Accepted 17 January 2007.

References 

  1. Gordon T, Castelli WP, Hjortland MC, Kannel WB, Dawber TR. High density lipoprotein as a protective factor against coronary heart disease. The Framingham Study. Am J Med. 1977;62:707–714
  2. Assmann G, Nofer JR. Atheroprotective effects of high-density lipoproteins. Annu Rev Med. 2003;54:321–341
  3. Oram JF. HDL apolipoproteins and ABCA1: partners in the removal of excess cellular cholesterol. Arterioscler Thromb Vasc Biol. 2003;23:720–727
  4. Singaraja RR, Brunham LR, Visscher H, Kastelein JJ, Hayden MR. Efflux and atherosclerosis: the clinical and biochemical impact of variations in the ABCA1 gene. Arterioscler Thromb Vasc Biol. 2003;23:1322–1332
  5. Brunham LR, Singaraja RR, Hayden MR. Variations on a gene: rare and common variants in ABCA1 and their impact on HDL cholesterol levels and atherosclerosis. Annu Rev Nutr. 2006;26:105–129
  6. Frikke-Schmidt R, Nordestgaard BG, Jensen GB, Tybjaerg-Hansen A. Genetic variation in ABC transporter A1 contributes to HDL cholesterol in the general population. J Clin Invest. 2004;114:1343–1353
  7. Tregouet DA, Ricard S, Nicaud V, et al. In-depth haplotype analysis of ABCA1 gene polymorphisms in relation to plasma ApoA1 levels and myocardial infarction. Arterioscler Thromb Vasc Biol. 2004;24:775–781
  8. Clee SM, Zwinderman AH, Engert JC, et al. Common genetic variation in ABCA1 is associated with altered lipoprotein levels and a modified risk for coronary artery disease. Circulation. 2001;103:1198–1205
  9. Brousseau ME, Bodzioch M, Schaefer EJ, et al. Common variants in the gene encoding ATP-binding cassette transporter 1 in men with low HDL cholesterol levels and coronary heart disease. Atherosclerosis. 2001;154:607–611
  10. Kakko S, Kelloniemi J, von Rohr P, et al. ATP-binding cassette transporter A1 locus is not a major determinant of HDL-C levels in a population at high risk for coronary heart disease. Atherosclerosis. 2003;166:285–290
  11. Andrikovics H, Pongracz E, Kalina E, et al. Decreased frequencies of ABCA1 polymorphisms R219K and V771M in Hungarian patients with cerebrovascular and cardiovascular diseases. Cerebrovasc Dis. 2006;21:254–259
  12. Zwarts KY, Clee SM, Zwinderman AH, et al. ABCA1 regulatory variants influence coronary artery disease independent of effects on plasma lipid levels. Clin Genet. 2002;61:115–125
  13. Kyriakou T, Hodgkinson C, Pontefract DE, et al. Genotypic effect of the -565C>T polymorphism in the ABCA1 gene promoter on ABCA1 expression and severity of atherosclerosis. Arterioscler Thromb Vasc Biol. 2005;25:418–423
  14. Lutucuta S, Ballantyne CM, Elghannam H, Gotto AM, Marian AJ. Novel polymorphisms in promoter region of atp binding cassette transporter gene and plasma lipids, severity, progression, and regression of coronary atherosclerosis and response to therapy. Circ Res. 2001;88:969–973
  15. Martin M, Gonzalez P, Reguero JJ, et al. ABCA1 polymorphisms and prognosis after myocardial infarction in young patients. Int J Cardiol. 2006;110:267–268
  16. Hodoglugil U, Williamson DW, Huang Y, Mahley RW. Common polymorphisms of ATP binding cassette transporter A1, including a functional promoter polymorphism, associated with plasma high density lipoprotein cholesterol levels in Turks. Atherosclerosis. 2005;183:199–212
  17. Probst MC, Thumann H, Aslanidis C, et al. Screening for functional sequence variations and mutations in ABCA1. Atherosclerosis. 2004;175:269–279
  18. Colditz GA, Manson JE, Hankinson SE. The Nurses’ Health Study: 20-year contribution to the understanding of health among women. J Womens Health. 1997;6:49–62
  19. Willett WC. Nutritional epidemiology. 2nd ed.. New York: Oxford University Press; 1998;
  20. Prentice RL, Breslow NE. Retrospective studies and failure time models. Biometrika. 1978;65:153–158
  21. Kroenke CH, Chu NF, Rifai N, et al. A cross-sectional study of alcohol consumption patterns and biologic markers of glycemic control among 459 women. Diab Care. 2003;26:1971–1978
  22. Shai I, Stampfer MJ, Ma J, et al. Homocysteine as a risk factor for coronary heart diseases and its association with inflammatory biomarkers, lipids and dietary factors. Atherosclerosis. 2004;177:375–381
  23. White HA. A heteroskedasticity-consistent covariance matrix estimator and a direct test for heteroskedasticity. Econometrica. 1980;48:817–838
  24. Kraft P, Cox DG, Paynter RA, Hunter D, De V. I. Accounting for haplotype uncertainty in matched association studies: a comparison of simple and flexible techniques. Genet Epidemiol. 2005;28:261–272
  25. Zaykin DV, Westfall PH, Young SS, et al. Testing association of statistically inferred haplotypes with discrete and continuous traits in samples of unrelated individuals. Hum Hered. 2002;53:79–91
  26. Wang J, Burnett JR, Near S, et al. Common and rare ABCA1 variants affecting plasma HDL cholesterol. Arterioscler Thromb Vasc Biol. 2000;20:1983–1989
  27. Benton JL, Ding J, Tsai MY, et al. Associations between two common polymorphisms in the ABCA1 gene and subclinical atheroscleroris: multi-Ethnic Study of Atherosclerosis (MESA). Atheroscleroris. 2007;193:352–360
  28. Haghpassand M, Bourassa PA, Francone OL, Aiello RJ. Monocyte/macrophage expression of ABCA1 has minimal contribution to plasma HDL levels. J Clin Invest. 2001;108:1315–1320
  29. Aiello RJ, Brees D, Bourassa PA, et al. Increased atherosclerosis in hyperlipidemic mice with inactivation of ABCA1 in macrophages. Arterioscler Thromb Vasc Biol. 2002;22:630–637
  30. Francone OL, Royer L, Boucher G, et al. Increased cholesterol deposition, expression of scavenger receptors, and response to chemotactic factors in Abca1-deficient macrophages. Arterioscler Thromb Vasc Biol. 2005;25:1198–1205
  31. Talmud PJ, Hawe E, Robertson K, et al. Genetic and environmental determinants of plasma high density lipoprotein cholesterol and apolipoprotein AI concentrations in healthy middle-aged men. Ann Hum Genet. 2002;66:111–124
  32. Kelley GA, Kelley KS. Aerobic exercise and HDL2-C: a meta-analysis of randomized controlled trials. Atherosclerosis. 2006;184:207–215
  33. Garrison RJ, Kannel WB, Feinleib M, et al. Cigarette smoking and HDL cholesterol: the Framingham offspring study. Atherosclerosis. 1978;30:17–25
  34. Wells G, Herrington DM. The Heart and Estrogen/Progestin Replacement Study: what have we learned and what questions remain?. Drugs Aging. 1999;15:419–422
  35. Mensink RP, Katan MB. Effect of dietary fatty acids on serum lipids and lipoproteins: a meta-analysis of 27 trials. Arteriosclerosis Thrombosis. 1992;12:911–919
  36. Wang Y, Oram JF. Unsaturated fatty acids phosphorylate and destabilize ABCA1 through a phospholipase D2 pathway. J Biol Chem. 2005;280:35896–35903
  37. Wang Y, Kurdi-Haidar B, Oram JF. LXR-mediated activation of macrophage stearoyl-CoA desaturase generates unsaturated fatty acids that destabilize ABCA1. J Lipid Res. 2004;45:972–980

 A short abstract of part of this work was presented at the 46th Annual American Heart Association Conference on Cardiovascular Disease Epidemiology and Prevention in Phoenix, Arizona, on March 2, 2006 and published as an abstract in Circulation 2006;113:301–81.

PII: S0021-9150(07)00059-7

doi: 10.1016/j.atherosclerosis.2007.01.025

Atherosclerosis
Volume 195, Issue 1 , Pages e172-e180 , November 2007