Associations between common polymorphisms of adenosine triphosphate-binding cassette transporter A1 and coronary artery disease in a Tunisian population

• Published in: Archives of cardiovascular diseases 2010-10, Vol.103 (10), p.530-537
• Main Authors: Rejeb, Jihène, Omezzine, Asma, Rebhi, Lamia, Boumaiza, Imen, Kchock, Kaouthar, Belkahla, Radhia, Rejeb, Nabila Ben, Nabli, Naoufel, Abdelaziz, Ahmed Ben, Boughzala, Essia, Bouslama, Ali
• Format: Article
• Language: English
• Subjects: ABCA1 polymorphisms; African Continental Ancestry Group - genetics; Aged; Atherosclerosis (general aspects, experimental research); ATP Binding Cassette Transporter 1; ATP-Binding Cassette Transporters - genetics; ATP-Binding Cassette Transporters - metabolism; Biological and medical sciences; Blood and lymphatic vessels; Cardiology. Vascular system; Cardiovascular; Case-Control Studies; Chi-Square Distribution; Coronary Angiography; Coronary artery disease; Coronary heart disease; Coronary Stenosis - blood; Coronary Stenosis - diagnostic imaging; Coronary Stenosis - ethnology; Coronary Stenosis - genetics; Diabetes Complications - ethnology; Diabetes Complications - genetics; Female; Gene Frequency; Genetic Predisposition to Disease; Haplotype; Haplotypes; Heart; Humans; Internal Medicine; Linkage Disequilibrium; Lipids - blood; Logistic Models; Male; Medical sciences; Middle Aged; Odds Ratio; Phenotype; Polymerase Chain Reaction; Polymorphism, Single Nucleotide; Polymorphismes d’ABCA1; Risk Assessment; Risk Factors; Severity of Illness Index; Smoking - adverse effects; Sténose coronaire; Tunisia - epidemiology; Tunisian; Tunisie
• ISSN: 1875-2136; 1875-2128
• DOI: 10.1016/j.acvd.2010.10.003

Summary Background The adenosine triphosphate-binding cassette transporter A1 (ABCA1) protein plays an important role in the first step of the reverse cholesterol transport system. Aims We studied the association of four polymorphisms in the ABCA1 gene (G1051A, G2706A, G2868A and –565C/T) with lipid profile and coronary artery disease. Methods Overall, 316 Tunisian patients underwent coronary angiography. Genotyping was performed using polymerase chain reaction-restriction fragment length polymorphism analysis. Lipid and apolipoprotein concentrations were measured. Results Only carriers of the G2706A allele were associated with a decreased risk of significant stenosis (odds ratio [OR] 0.66, 95% confidence interval [CI] 0.22–0.92, p  = 0.029), without pronounced effects on high-density lipoprotein (HDL) cholesterol. This protective effect was significant in smokers and diabetes. Carriers of the G1051A allele were associated only with increased concentrations of HDL cholesterol ( p  = 0.032). G2868A and –565C/T did not show any association with lipids or risk of significant stenosis. When ABCA1 polymorphisms were combined in haplotypes possessing G1051A, G2706A, G2868A and –565C/T, (AAGC) seemed to be most protective against significant stenosis (OR 0.5, 95% CI 0.29–0.96, p  = 0.048) whereas (GGAT) was probably the most atherogenic (OR 1.26, 95% CI 1.03–1.56, p  = 0.025). Conclusion Only the G2706A allele seems to be associated with a reduced risk of significant stenosis without important modification of HDL-cholesterol concentration, and appears to be more protective for smokers and diabetic patients. We found that (AAGC) seems to be a protective haplotype whereas (GGAT) has an atherogenic effect in a Tunisian population.