ABCA1基因R1587K位点多态性与冠心病及血脂水平的关系

目的:探讨三磷酸腺苷结合盒转运子A1(ATP binding cassette transporter 1,ABCAl)基因1587单核苷酸多态性(single nucleotide polymorphism,SNP)位点与冠心病(coronary heart disease,CHD)及血脂水平的关系.方法:采用病例对照研究,聚合酶链反应一限制性片段长度多态性(Polymerase Chain Reaction-Restriction Fragment Length Polymorphism)方法.对260例经冠状动脉造影确诊的冠心病患者和同一地区造影排除冠心病正常对照248例,进行ABCAI基因1587位点SNP分析检测,比较不同基因型与血脂水平和冠心病的关系.结果:ABCA1基因1587位点多态性有三种:RR、RK和KK型.全部检测人群中RR型占76.97%,RK型占18.11%.KK型占4.92%.冠心病组与对照组中RR、RK、KK 三种基因型频率差异无统计学意义(P>0.05);冠心病患者与正常人等位基因频率差异无显著性(P>0.05);K等位基因携带者HDL-C水平低于非携带者(P<0.01).结论:ABCA1基因1587位点多态性冠心病患病无相关性;K等位基因携带者血浆HDL-C水平低下.

Association of ABCA1 gene R1587K polymorphism with lipoprotein levels and coronary heart disease

Objective:To investigate the association of loci 1587 polymorphisms of ATP binding cassette transporter 1 gene with coronary heart disease(CHD) and lipoprotein levels. Methods:Genotypes were determined by polymerase chain reaction-restriction fragment length polymorphism in 260 patients with CHD and 248 control subjects. Results:Three genotypes were shown in the present study. RR, RK and KK genotypes accounted for 76.97%,18.11% and 4.92%, respectively. Neither the allele frequencies nor genotypes showed significant difference between patients with CHD and control subjects(P > 0.05). The HDL-C levels was lower in K allele carriers than in non-K allele carriers. Conclusion:The genotypes of ABCA1 R1587K polymorphism were associated with the plasma levels of HDL-C. The HDL-C level of K allele carriers was remarkably lower than that in non-K allele carriers. However,there was no significant association of ABCA1 R1587K polymorphism with CHD.