Translational Research
Volume 155, Issue 4 , Pages 185-190 , April 2010

The role of ATP-binding-cassette-transporter-A1 (ABCA1) gene polymorphism on coronary artery disease risk

  • Mahmoud Doosti

      Affiliations

    • Department of Clinical Biochemistry, Faculty of Medicine, Tehran University of Medical Sciences, Tehran, Iran
    • ,
  • Mahdi Najafi

      Affiliations

    • Tehran Heart Center, Department of Cardiothoracic Anesthesia, Tehran University of Medical Sciences, Tehran, Iran
    • ,
  • Javad Zavar Reza

      Affiliations

    • Department of Clinical Biochemistry, Faculty of Medicine, Tehran University of Medical Sciences, Tehran, Iran
    • ,
  • Abdolrahim Nikzamir

      Affiliations

    • Department of Clinical Biochemistry, Faculty of Medicine, Tehran University of Medical Science, Tehran, Iran; Department of Clinical Biochemistry, Faculty of Medicine, Ahwaz Jondi Shapour University of Medical Sciences, Ahwaz, Iran
    • Corresponding Author InformationReprint requests: Abdolrahim Nikzamir, PhD, Department of Clinical Biochemistry, Faculty of Medicine, Ahwaz Jondi Shapour University of Medical Sciences, Goolestan Street, Ahwaz 14459, Iran

Received 11 September 2009 ,Revised 30 November 2009 ,Accepted 1 December 2009.

References 

  1. Dean M, Rzhetsky A, Allikmets R. The human ATP-binding cassette (ABC) transporter superfamily. Genome Res. 2001;11:1156–1166
  2. Navab M, Reddy ST, Van Lenten BJ, Anantharamaiah GM, Fogelman AM. The role of dysfunctional HDL in atherosclerosis. J Lipid Res. 2009;50:S145–S149
  3. Yamakawa-Kobayashi K, Yanagi H, Yu YX, Endob K, Arinamia T, Hamaguchi H. Association between serum high-density lipoprotein cholesterol or apolipoprotein A1 levels and common genetic variants of the ABCA1 gene in Japanese school aged children. Metab Clin Exp. 2004;53:182–186
  4. Oram JF, Vaughan AM. ABCA1-mediated transport of cellular cholestrrol and phospholipids to HDL apolipoproteins. Curr Opin Lipidol. 2000;11:253–260
  5. Iida A, Saito S, Sekine A, et al. High-density single-nucleotide polymorphism (SNP) map of the 150-kb region corresponding to the human ATP-binding cassette transporter A1 (ABCA1) gene. J Hum Genet. 2001;46:522–528
  6. Yokoyama S. Assembly of high density lipoprotein by the ABCA1/apolipoprotein pathway. Curr Opin Lipidol. 2005;16:269–279
  7. 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
  8. Yancey PG, Bortnick AE, Kellner-Weibel G, et al. Importance of different pathways of cellular cholesterol efflux. Arterioscler Thromb Vasc Biol. 2003;23:712–719
  9. Tall AR, Costet P, Wang N. Regulation and mechanisms of macrophage cholesterol efflux. J Clin Invest. 2002;110:899–904
  10. van Dam MJ, de Groot E, Clee SM, et al. Association between increased arterial-wall thickness and impairment in ABCA1- driven cholesterol efflux: an observational study. Lancet. 2002;359:37–42
  11. Kyriakou T, Pontefract DE, Viturro E, et al. Functional polymorphism in ABCA1 influences age of symptom onset in coronary artery disease patients. Hum Mol Genet. 2007;16:1412–1422
  12. 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
  13. 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
  14. Attie AD, Kastelein JP, Hayden MR. Pivotal role of ABCA1 in reverse cholesterol transport influencing HDL levels and susceptibility to atherosclerosis. J Lipid Res. 2001;42:1717–1726
  15. 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
  16. Brooks-Wilson A, Marcil M, Clee SM, et al. Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency. Nat Genet. 1999;22:336–345
  17. Berge KE, Tian H, Graf GA, et al. Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters. Science. 2000;290:1771–1775
  18. Marcovina SM, Albers JJ, Scanu AM, et al. Use of a reference material proposed by the International Federation of Clinical Chemistry and Laboratory Medicine to evaluate analytical methods for the determination of plasma lipoprotein (a). Clin Chem. 2000;46:1956–1967
  19. American Diabetes Association . Diagnosis and classification of diabetes mellitus. Diabetes Care. 2005;28:S37–S42
  20. Friedewald WT, Levy RI, Fredrickson DS. Estimation of the concentration of the low density lipoprotein cholesterol in plasma without use of the preparative ultracentrifuge. Clin Chem. 1972;18:499–509
  21. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 1988;16:1215
  22. Santamarina-Fojo S, Peterson K, Knapper C, et al. Complete genomic sequence of the human ABCA1 gene: analysis of the human and mouse ATP-binding cassette A promoter. Proc Natl Acad Sci U S A. 2000;97:7987–7992
  23. Brewer HB, Remaley AT, Neufeld EB, Basso F, Joyce C. Regulation of plasma high-density lipoprotein levels by the ABCA1 transporter and the emerging role of high-density lipoprotein in the treatment of cardiovascular disease. Arterioscler Thromb Vasc Biol. 2004;24:1755–1760
  24. 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
  25. Tan JH, Low PS, Tan YS, et al. ABCA1 gene polymorphisms and their associations with coronary artery disease and plasma lipids in males from three ethnic populations in Singapore. Hum Genet. 2003;113:106–117
  26. 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:r13–r20
  27. Wang J, Burneh JR, Near S, et al. Common and rare ABCA1 variants affecting plasma HDL-C. Arterioscler Thromb Vasc Biol. 2000;20:1983–1989
  28. Stein O, Stein Y. Atheroprotective mechanisms of HDL. Atherosclerosis. 1999;144:285–301
  29. Real JT, Chaves FJ, Martínez-Uso I, et al. Importance of HDL cholesterol levels and the total/HDL cholesterol ratio as a risk factor for coronary heart disease in molecularly defined heterozygous familial hypercholesterolaemia. Eur Heart J. 2001;22:465–471
  30. Srinivasan SR, Li S, Chen W, Boerwinkle E, Berenson GS. R219K polymorphism of the ABCA1 gene and its modulation of the variations in serum high-density lipoprotein cholesterol and triglycerides related to age and adiposity in white versus black young adults. The Bogalusa heart study. Metabolism. 2003;52:930–934
  31. Brunham LR, Kruit JK, Iqbal J, et al. Intestinal ABCA1 directly contributes to HDL biogenesis in vivo. J Clin Invest. 2006;116:1052–1062
  32. Harada T, Imai Y, Nojiri T, et al. A common Ile 823 Met variant of ATP-binding cassette transporter A1 gene (ABCA1) alters high density lipoprotein cholesterol level in Japanese population. Atherosclerosis. 2003;169:105–112
  33. 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
  34. Liu L, Guo ZG, Wang QG, Liu SL, Lai WY, Tu Y. Significance of -191G/C single nucleotide polymorphisms in the promoter region of ATP binding cassette transporter gene in coronary artery disease. Di Yi Jun Yi Da Xue Xue Bao. 2005;25:660–662
  35. Hong SH, Riley W, Rhyne J, Friel G, Miller M. Lack of association between increased carotid intima-media thickening and decreased HDL-cholesterol in a family with a novel ABCA1 variant, G2265T. Clin Chem. 2002;48:2066–2070
  36. Albrecht C, Soumian S, Amey JS, et al. ABCA1 expression in carotid atherosclerotic plaques. Stroke. 2004;35:2801–2806
  37. Porchay I, Pean F, Belili N, et al. for the D.E.S.I.R. Study Group ABCA1 single nucleotide polymorphisms on high-density lipoprotein-cholesterol and overweight: the D.E.S.I.R. Study. Obesity. 2006;14:1874–1879
  38. Xiao ZJ, Zhao SP, Nie S, et al. Effect of the interaction between paranoxonase 1 and ATP-binding cassette transporter 1 gene polymorphism on serum lipid level. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2005;22:272–276
  39. 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
  40. Patel S, Drew BG, Nakhla S, et al. Reconstituted high-density lipoprotein increases plasma high-density lipoprotein anti-inflammatory properties and cholesterol efflux capacity in patients with type 2 diabetes. Am Coll Cardiol. 2009;53:962–971
  41. Hodoglugil U, Williamson DW, Huaung Y, Mahley RW. Common polymorphisms of ATP binding cassette transporter A1, including a functional promoter polymorphism, associated with plasma high density lipoprotein levels in Turks. Atherosclerosis. 2005;183:199–212
  42. 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
  43. Soro A, Pajukanta P, Lilja HE, et al. Genome scans provide evidence for low-HDL-C loci on chromosomes 8q23, 16q24.1-24.2, and 20q13.11 in Finnish families. Am J Hum Genet. 2002;70:1333–1340
  44. Clee SM, Kastelein JJ, van Dam M, et al. Age and residual cholesterol efflux affect HDL cholesterol levels and coronary artery disease in ABCA1 heterozygotes. J Clin Invest. 2000;106:1263–1270

 Supported by a grant from the Tehran University of Medical Sciences, Tehran, Iran.

PII: S1931-5244(09)00349-1

doi: 10.1016/j.trsl.2009.12.002

Translational Research
Volume 155, Issue 4 , Pages 185-190 , April 2010

Article Tools