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

Translational Research

Volumn 155, Issue 4, 2010, Pages 185-190

  Doosti, Mahmoud ^a   Najafi, Mahdi ^b   Reza, Javad Zavar ^a   Nikzamir, Abdolrahim ^a  

^a TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^b TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

Author keywords

[No Author keywords available]

Indexed keywords

ABC TRANSPORTER A1; ADENOSINE TRIPHOSPHATE; LOW DENSITY LIPOPROTEIN CHOLESTEROL;

ADULT; ARTICLE; BODY MASS; CIGARETTE SMOKING; CLINICAL FEATURE; CONTROLLED STUDY; CORONARY ARTERY DISEASE; CORONARY RISK; DNA POLYMORPHISM; GENETIC VARIABILITY; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN FUNCTION;

EID: 77949606005     PISSN: 19315244     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.trsl.2009.12.002     Document Type: Article

References (44)

1. Dean M., Rzhetsky A., and Allikmets R. The human ATP-binding cassette (ABC) transporter superfamily. Genome Res 11 (2001) 1156-1166
2. Navab M., Reddy S.T., Van Lenten B.J., Anantharamaiah G.M., and Fogelman A.M. The role of dysfunctional HDL in atherosclerosis. J Lipid Res 50 (2009) S145-S149
3. Yamakawa-Kobayashi K., Yanagi H., Yu Y.X., Endob K., Arinamia T., and 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 53 (2004) 182-186
4. Oram J.F., and Vaughan A.M. ABCA1-mediated transport of cellular cholestrrol and phospholipids to HDL apolipoproteins. Curr Opin Lipidol 11 (2000) 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 46 (2001) 522-528
6. Yokoyama S. Assembly of high density lipoprotein by the ABCA1/apolipoprotein pathway. Curr Opin Lipidol 16 (2005) 269-279
7. Zwarts K.Y., Clee S.M., Zwinderman A.H., et al. ABCA1 regulatory variants influence coronary artery disease independent of effects on plasma lipid levels. Clin Genet 61 (2002) 115-125
8. Yancey P.G., Bortnick A.E., Kellner-Weibel G., et al. Importance of different pathways of cellular cholesterol efflux. Arterioscler Thromb Vasc Biol 23 (2003) 712-719
9. Tall A.R., Costet P., and Wang N. Regulation and mechanisms of macrophage cholesterol efflux. J Clin Invest 110 (2002) 899-904
10. van Dam M.J., de Groot E., Clee S.M., et al. Association between increased arterial-wall thickness and impairment in ABCA1- driven cholesterol efflux: an observational study. Lancet 359 (2002) 37-42
11. Kyriakou T., Pontefract D.E., Viturro E., et al. Functional polymorphism in ABCA1 influences age of symptom onset in coronary artery disease patients. Hum Mol Genet 16 (2007) 1412-1422
12. Singaraja R.R., Brunham L.R., Visscher H., Kastelein J.J., and Hayden M.R. Efflux and atherosclerosis: the clinical and biochemical impact of variations in the ABCA1 gene. Arterioscler Thromb Vasc Biol 23 (2003) 1322-1332
13. Clee S.M., Zwinderman A.H., Engert J.C., et al. Common genetic variation in ABCA1 is associated with altered lipoprotein levels and a modified risk for coronary artery disease. Circulation 103 (2001) 1198-1205
14. Attie A.D., Kastelein J.P., and Hayden M.R. Pivotal role of ABCA1 in reverse cholesterol transport influencing HDL levels and susceptibility to atherosclerosis. J Lipid Res 42 (2001) 1717-1726
15. Lutucuta S., Ballantyne C.M., Elghannam H., Gotto Jr. A.M., and Marian A.J. 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 88 (2001) 969-973
16. Brooks-Wilson A., Marcil M., Clee S.M., et al. Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency. Nat Genet 22 (1999) 336-345
17. Berge K.E., Tian H., Graf G.A., et al. Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters. Science 290 (2000) 1771-1775
18. Marcovina S.M., Albers J.J., Scanu A.M., 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 46 (2000) 1956-1967
19. American Diabetes Association. Diagnosis and classification of diabetes mellitus. Diabetes Care 28 (2005) S37-S42
20. Friedewald W.T., Levy R.I., and Fredrickson D.S. Estimation of the concentration of the low density lipoprotein cholesterol in plasma without use of the preparative ultracentrifuge. Clin Chem 18 (1972) 499-509
21. Miller S.A., Dykes D.D., and Polesky H.F. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16 (1988) 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 97 (2000) 7987-7992
23. Brewer Jr. H.B., Remaley A.T., Neufeld E.B., Basso F., and 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 24 (2004) 1755-1760
24. Haghpassand M., Bourassa P.A., Francone O.L., and Aiello R.J. Monocyte/macrophage expression of ABCA1 has minimal contribution to plasma HDL levels. J Clin Invest 108 (2001) 1315-1320
25. Tan J.H., Low P.S., Tan Y.S., 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 113 (2003) 106-117
26. Clee S.M., Zwinderman A.H., Engert J.C., et al. Common genetic variation in ABCA1 is associated with altered lipoprotein levels and a modified risk for coronary artery disease. Circulation 103 (2001) r13-r20
27. Wang J., Burneh J.R., Near S., et al. Common and rare ABCA1 variants affecting plasma HDL-C. Arterioscler Thromb Vasc Biol 20 (2000) 1983-1989
28. Stein O., and Stein Y. Atheroprotective mechanisms of HDL. Atherosclerosis 144 (1999) 285-301
29. Real J.T., Chaves F.J., 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 22 (2001) 465-471
30. Srinivasan S.R., Li S., Chen W., Boerwinkle E., and Berenson G.S. 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 52 (2003) 930-934
31. Brunham L.R., Kruit J.K., Iqbal J., et al. Intestinal ABCA1 directly contributes to HDL biogenesis in vivo. J Clin Invest 116 (2006) 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 169 (2003) 105-112
33. Tregouet D.A., 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 24 (2004) 775-781
34. Liu L., Guo Z.G., Wang Q.G., Liu S.L., Lai W.Y., and 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 25 (2005) 660-662
35. Hong S.H., Riley W., Rhyne J., Friel G., and 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 48 (2002) 2066-2070
36. Albrecht C., Soumian S., Amey J.S., et al. ABCA1 expression in carotid atherosclerotic plaques. Stroke 35 (2004) 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 14 (2006) 1874-1879
38. Xiao Z.J., Zhao S.P., 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 22 (2005) 272-276
39. Brousseau M.E., Bodzioch M., Schaefer E.J., 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 154 (2001) 607-611
40. Patel S., Drew B.G., 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 53 (2009) 962-971
41. Hodoglugil U., Williamson D.W., Huaung Y., and Mahley R.W. Common polymorphisms of ATP binding cassette transporter A1, including a functional promoter polymorphism, associated with plasma high density lipoprotein levels in Turks. Atherosclerosis 183 (2005) 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 166 (2003) 285-290
43. Soro A., Pajukanta P., Lilja H.E., 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 70 (2002) 1333-1340
44. Clee S.M., Kastelein J.J., van Dam M., et al. Age and residual cholesterol efflux affect HDL cholesterol levels and coronary artery disease in ABCA1 heterozygotes. J Clin Invest 106 (2000) 1263-1270