Involvement of ATP‑binding cassette, subfamily A polymorphism with susceptibility to coronary artery disease

Zargar,Seema; Wakil,Salma; Mobeirek,Abduelah  F.; Al‑Jafari,Abdulaziz  A.

doi:10.3892/br.2013.163

Involvement of ATP‑binding cassette, subfamily A polymorphism with susceptibility to coronary artery disease

Authors:
- Seema Zargar
- Salma Wakil
- Abduelah F. Mobeirek
- Abdulaziz A. Al‑Jafari
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Affiliations: Department of Biochemistry, Faculty of Science, King Saud University, Riyadh 11451, Saudi Arabia, King Faisal Specialist Hospital and Research Centre, Riyadh 11451, Saudi Arabia, Cardiac Sciences Department, Faculty of Medicine, King Saud University, Riyadh 11451, Saudi Arabia
Published online on: September 2, 2013 https://doi.org/10.3892/br.2013.163
Pages: 883-888

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Abstract

Coronary artery disease (CAD) is one of the leading causes of mortality in developed countries. Adenosine triphosphate (ATP)‑binding cassette A1 (ABCA1) belongs to the superfamily of membrane proteins that function as a key factor in the regulation of plasma high‑density lipoprotein cholesterol (HDL‑C) and the metabolism of apolipoprotein A‑I (Apo AI). The role of this gene in CAD remains controversial. The aim of this study was to investigate the frequency of single‑nucleotide polymorphism (SNP) rs2230806 in the ABCA1 gene of 120 CAD patients and 100 age‑matched, healthy controls using restriction fragment length polymorphism and direct sequencing. Total serum cholesterol, HDL‑C and serum triglyceride levels were also assayed. Low‑density lipoprotein cholesterol (LDL‑C) was calculated using the Friedewald formula. When compared, the G allele occurred significantly more frequently in CAD patients compared to the control subjects. The odds ratio (OR) for CAD conferred by carrying the ABCA1 G allele was 2.362 [95% confidence interval (CI) 0.9055‑6.161] (P<0.08). The K variant of SNP rs2230806 in the G allele was associated with a decrease in HDL‑C levels, but an increased frequency of CAD. In conclusion, the results showed that SNP rs2230806 in the ABCA1 gene is significantly associated with the incidence of CAD. Homozygosity for the G allelic variant in CAD patients may be associated with an increased risk of CAD/MI.

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1	Bruckert E, Baccara-Dinet M and Eschwege E: Low HDL-cholesterol is common in European Type 2 diabetic patients receiving treatment for dyslipidaemia: data from a pan-European survey. Diabet Med. 24:388–391. 2007. View Article : Google Scholar : PubMed/NCBI
2	Goldbourt U, Yaari S and Medalie JH: Isolated low HDL cholesterol as a risk factor for coronary heart disease mortality. A 21-year follow-up of 8000 men. Arterioscler Thromb Vasc Biol. 17:107–113. 1997.PubMed/NCBI
3	Fredenrich A and Bayer P: Reverse cholesterol transport, high density lipoproteins and HDL cholesterol: recent data. Diabetes Metab. 29:201–205. 2003. View Article : Google Scholar : PubMed/NCBI
4	Brooks-Wilson A, Marcil M, Clee SM, Zhang LH, Roomp K, van Dam M, Yu L, Brewer C, Collins JA, Molhuizen HO, Loubser O, Ouelette BF, Fichter K, Ashbourne-Excoffon KJ, Sensen CW, Scherer S, Mott S, Denis M, Martindale D, Frohlich J, Morgan K, Koop B, Pimstone S, Kastelein JJ, Genest J Jr and Hayden MR: Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency. Nat Genet. 22:336–345. 1999. View Article : Google Scholar : PubMed/NCBI
5	Benton JL, Ding J, Tsai MY, Shea S, Rotter JI, Burke GL and Post W: Associations between two common polymorphisms in the ABCA1 gene and subclinical atherosclerosis: Multi-Ethnic Study of Atherosclerosis (MESA). Atherosclerosis. 193:352–360. 2007. View Article : Google Scholar : PubMed/NCBI
6	Doosti M, Najafi M, Reza JZ and Nikzamir A: The role of ATP-binding-cassette-transporter-A1 (ABCA1) gene polymorphism on coronary artery disease risk. Transl Res. 155:185–190. 2010. View Article : Google Scholar : PubMed/NCBI
7	Clee SM, Kastelein JJ, van Dam M, Marcil M, Roomp K, Zwarts KY, Collins JA, Roelants R, Tamasawa N, Stulc T, Suda T, Ceska R, Boucher B, Rondeau C, DeSouich C, Brooks-Wilson A, Molhuizen HO, Frohlich J, Genest J Jr and Hayden MR: Age and residual cholesterol efflux affect HDL cholesterol levels and coronary artery disease in ABCA1 heterozygotes. J Clin Invest. 106:1263–1270. 2000. View Article : Google Scholar : PubMed/NCBI
8	Pullinger CR, Hakamata H, Duchateau PN, Eng C, Aouizerat BE, Cho MH, Fielding CJ and Kane JP: Analysis of hABC1 gene 5′ end: additional peptide sequence, promoter region, and four polymorphisms. Biochem Bibiophys Res Comm. 271:451–455. 2000.PubMed/NCBI
9	Brousseau ME, Bodzioch M, Schaefer EJ, Goldkamp AL, Kielar D, Probst M, Ordovas JM, Aslanidis C, Lackner KJ, Bloomfield Rubins H, Collins D, Robins SJ, Wilson PW and Schmitz G: Common variants in the gene encoding ATP-binding cassette transporter 1 in men with low HDL cholesterol levels and coronary heart disease. Atherosclerosis. 154:607–611. 2001. View Article : Google Scholar : PubMed/NCBI
10	Singaraja RR, Brunham LR, Visscher H, Kastelein JJ and Hayden MR: Efflux and atherosclerosis: the clinical and biochemical impact of variations in the ABCA1 gene. Arterioscler Thromb Vasc Biol. 23:1322–1332. 2003. View Article : Google Scholar : PubMed/NCBI
11	Frikke-Schmidt R, Nordestgaard BG, Jensen GB and Tybjaerg-Hansen A: Genetic variation in ABC transporter A1 contributes to HDL cholesterol in the general population. J Clin Invest. 114:1343–1353. 2004. View Article : Google Scholar : PubMed/NCBI
12	Howard BV, Ruotolo G and Robbins DC: Obesity and dyslipidemia. Endocrinol Metab Clin North Am. 32:855–867. 2003. View Article : Google Scholar
13	Qi LP, Yan XW, Ye P and Dang AM: Association between two common polymorphisms in ATP-binding cassette A1 gene and coronary heart disease complicated with diabetes in Chinese Han people. Chin Med. 5:295–297. 2010.(In Chinese).
14	Shi WY, Zhao ZZ, Xiao DM, Tang CK, Xu GZ and Yang YZ: Study on single nucleotide polymorphisms of ABCA1R219K in Han Population. Pract Prev Med. 16:1057–1060. 2009.(In Chinese).
15	Frikke-Schmidt R, Nordestgaard BG, Jensen GB, Steffensen R and Tybjaerg-Hansen A: Genetic variation in ABCA1 predicts ischemic heart disease in the general population. Arterioscler Thromb Vasc Biol. 28:180–186. 2008. View Article : Google Scholar : PubMed/NCBI
16	Tregouet DA, Ricard S, Nicaud V, Arnould I, Soubigou S, Rosier M, Duverger N, Poirier O, Mace S, Kee F, Morrison C, Denefle P, Tiret L, Evans A, Deleuze JF and Cambien F: In-depth haplotype analysis of ABCA1 gene polymorphisms in relation to plasma ApoA1 levels and myocardial infarction. Arterioscler Thromb Vasc Biol. 24:775–781. 2004. View Article : Google Scholar : PubMed/NCBI
17	Cook LJ, Ho LW, Wang L, Terrenoire E, Brayne C, Evans JG, Xuereb J, Cairns NJ, Turic D, Hollingworth P, Moore PJ, Jehu L, Archer N, Walter S, Foy C, Edmondson A, Powell J, Lovestone S, Williams J and Rubinsztein DC: Candidate gene association studies of genes involved in neuronal cholinergic transmission in Alzheimer’s disease suggests choline acetyltransferase as a candidate deserving further study. Am J Med Genet B Neuropsychiatr Genet. 132B:5–8. 2005.PubMed/NCBI
18	Tan JH, Low PS, Tan YS, Tong MC, Saha N, Yang H and Heng CK: ABCA1 gene polymorphisms and their associations with coronary artery disease and plasma lipids in males from three ethnic populations in Singapore. Hum Genet. 113:106–117. 2003.PubMed/NCBI
19	Clee SM, Zwinderman AH, Engert JC, Zwarts KY, Molhuizen HO, Roomp K, Jukema JW, van Wijland M, van Dam M, Hudson TJ, Brooks-Wilson A, Genest J Jr, Kastelein JJ and Hayden MR: Common genetic variation in ABCA1 is associated with altered lipoprotein levels and a modified risk for coronary artery disease. Circulation. 103:1198–1205. 2001. View Article : Google Scholar : PubMed/NCBI
20	Wang J, Burnett JR, Near S, Young K, Zinman B, Hanley AJ, Connelly PW, Harris SB and Hegele RA: Common and rare ABCA1 variants affecting plasma HDL cholesterol. Arterioscler Thromb Vasc Biol. 20:1983–1989. 2000. View Article : Google Scholar : PubMed/NCBI
21	Cenarro A, Artieda M, Castillo S, Mozas P, Reyes G, Tejedor D, Alonso R, Mata P, Pocovi M and Civeira F: A common variant in the ABCA1 gene is associated with a lower risk for premature coronary heart disease in familial hypercholesterolaemia. J Med Genet. 40:163–168. 2003. View Article : Google Scholar : PubMed/NCBI
22	Talmud PJ: Genetic determinants of plasma triglycerides: impact of rare and common mutations. Curr Atheroscler Rep. 3:191–199. 2001. View Article : Google Scholar : PubMed/NCBI
23	Lutucuta S, Ballantyne CM, Elghannam H, Gotto AM Jr and 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. 88:969–973. 2001. View Article : Google Scholar