新疆维吾尔族ATP结合盒转运子A1基因R219K多态性与冠心病的关系

Association between R219K polymorphism of ATP-binding cassette transporter 1 gene in Xinjiang Uygur population and coronary heart disease

目的:探讨ATP结合盒转运子A1基因(ATP binding cassette transporter 1,ABCA1)R219K多态性在新疆维吾尔族人群中的分布及其与冠心病(CHD)的关系。方法:采用病例对照研究。用聚合酶链式反应-限制性片段长度多态性(PCR-RFLP)方法测定ABCA1基因多态性。结果:新疆维吾尔族ABCA1基因的多态性位点存在RR、RK、KK型三种基因型。冠心病组KK型基因频率、K等位基因频率低于对照组(P<0.05～<0.01)。K等位基因与冠心病的患病风险呈负相关,OR值为0.640(95%CI 0.459～0.893),该等位基因可能为冠心病的保护因素。K等位基因携带者的高密度脂蛋白-胆固醇(HDL-C)水平高于RR基因型(P<0.05)。多因素Logistic回归分析显示,性别、血清总胆固醇、吸烟、高血压、糖尿病为研究对象发生冠心病的独立危险因素。结论:研究显示K等位基因可能通过作用于血脂间接影响新疆维吾尔族冠心病的患病风险,但不是其免于发生冠心病的独立保护因素。

Objective： To study the distribution of R219K polymorphism in ATP-binding cassette transporter 1 （ABCA1） gene in Xinjiang Uygur population and the association of this polymorphism with coronary heart disease （CHD）. Methods： A case-control study was conducted. The genotype and allele frequencies of ABCA1 R219K genet-ic variation were assayed by polymerase chain reaction-restricted fragments length polymorphism （PCR--RFLP）. Re-sults： ABCA1 gene R219K polymorphism was existing in Uygur population, which had three types： RR genotype, RK genotype and KK genotype. Compared with control group, the CHD group had lower KK genotype frequency and lower K allele. There was significant difference between two groups （P〈0. 01. 〈0.05）. K allele carriers had a de-creased CHD risk （Odds ratio=0. 640, 95% confidence interval： 0. 459-0. 893）. The level of HDL was higher in K allele carriers （KK＋RK） than that of RR genotype carriers （P〈0.05）. It was shown sex, total cholesterol, smoke, hypertension and diabetes were independent factors for CHD accidents by Logistic analysis. Conclusion： K allele had an indirect effect on decreased CHD risk in Xinjiang Uygur population by decreasing the level of blood fat, but it seems to be not an independent factor.