Coronary artery disease (CAD) is an inflammatory heart disease characterized by the narrowing of coronary arteries. ATP-binding cassette transporter A1 (ABCA1) is a gene involved in regulation of cholesterol efflux and formation of high-density lipoprotein cholesterol (HDL-C). Present study aimed to explore the association of ABCA1 rs146292819 polymorphism with CAD development as well as its effect on serum lipid levels in the Pakistani population. Study subjects included 300 CAD patients and 300 age- and sex-matched healthy individuals. Methods involved genomic DNA extraction, amplification of rs146292819 polymorphism using allele-specific PCR, analyzing PCR product by agarose gel electrophoresis and determination of serum lipids. In this study, genotype frequencies of rs146292819 polymorphism in CAD patients were GG (43%), GT (27%), TT (30%) as compared to GG (25%), GT (31%), TT (44%) in healthy subjects. GG genotype increased the risk of developing CAD by 2.2326 times (OR 2.2326; 95% CI 1.5775–3.1597) and caused decrease in HDL-C levels by 2.6348 times. GT genotype was neither associated with CAD development (OR 0.8504; 95% CI 0.5974–1.2106) nor HDL-C levels. TT genotype lowered the risk of CAD development by 0.5381 times (OR 0.5381; 95% CI 0.3846–0.753) and protected from drop in HDL-C levels by 0.5086 times (OR 0.5086; 95% CI 0.3429–0.7544). It can be concluded that GG genotype of rs146292819 polymorphism and altered lipid profile act as risk factors in the pathogenesis of CAD in the Pakistani population.

中文翻译：

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巴基斯坦人群中ABCA1基因的rs146292819多态性与冠心病风险的关联。

冠状动脉疾病（CAD）是一种炎症性心脏病，其特征在于冠状动脉狭窄。ATP结合盒转运蛋白A1（ABCA1）是涉及胆固醇外排和高密度脂蛋白胆固醇（HDL-C）形成的基因。本研究旨在探讨ABCA1 rs146292819基因多态性与CAD的发展及其对巴基斯坦人群血脂水平的影响。研究对象包括300名CAD患者以及300名年龄和性别匹配的健康个体。方法包括基因组DNA提取，使用等位基因特异性PCR扩增rs146292819多态性，通过琼脂糖凝胶电泳分析PCR产物和测定血脂。在这项研究中，CAD患者rs146292819基因多态性的基因型频率为GG（43％），GT（27％），健康受试者的TT（30％）与GG（25％），GT（31％），TT（44％）相比。GG基因型使患上CAD的风险增加2.2326倍（OR 2.2326； 95％CI 1.5775-3.1597），并使HDL-C水平降低2.6348倍。GT基因型既不与CAD发育相关（OR 0.8504； 95％CI 0.5974-1.2106）也不与HDL-C水平相关。TT基因型将CAD发生的风险降低了0.5381倍（或0.5381； 95％CI 0.3846-0.753），并防止HDL-C水平下降了0.5086倍（OR 0.5086； 95％CI 0.3429-0.7544）。可以得出结论，rs146292819基因多态性的GG基因型和脂质分布改变是巴基斯坦人群CAD发病机制的危险因素。1597），并导致HDL-C水平降低2.6348倍。GT基因型既不与CAD发育相关（OR 0.8504； 95％CI 0.5974-1.2106）也不与HDL-C水平相关。TT基因型将CAD发生的风险降低了0.5381倍（或0.5381； 95％CI 0.3846-0.753），并防止HDL-C水平下降了0.5086倍（OR 0.5086； 95％CI 0.3429-0.7544）。可以得出结论，rs146292819基因多态性的GG基因型和脂质分布改变是巴基斯坦人群CAD发病机制的危险因素。1597），并导致HDL-C水平降低2.6348倍。GT基因型既不与CAD发育相关（OR 0.8504； 95％CI 0.5974-1.2106）也不与HDL-C水平相关。TT基因型将CAD发生的风险降低了0.5381倍（或0.5381； 95％CI 0.3846-0.753），并防止HDL-C水平下降了0.5086倍（OR 0.5086； 95％CI 0.3429-0.7544）。可以得出结论，rs146292819基因多态性的GG基因型和脂质分布改变是巴基斯坦人群CAD发病机制的危险因素。