蒙古族ATP结合盒转运子A1基因R219K多态性与冠心病的相关性

Association between R219K Polymorphism of ATP-binding Cassette Transporter 1 Gene and Coronary Heart Disease in Mongolian Population

目的探讨ATP结合盒转运子A1基因（ATP binding cassette transporter 1,ABCA1）R219K多态性在内蒙古地区蒙古族人群中的分布及其与冠心病的关系。方法采用聚合酶链反应-限制片段长度多态性方法检测115名蒙古族冠心病患者和对照组ABCA1基因相应片段的多态性。结果两组基因型频率均符合Hardy-Weinberg平衡。内蒙古地区蒙古族人群中ABCA1基因R219K多态性位点存在RR、RK、KK三种基因型,对照组的KK基因型的频率显著高于CHD组（32.7% vs 16.7%,P〈0.05）。KK基因型的OR值为0.411（95% CI0.17~0.99）。结论 ABCA1基因R219K多态性与内蒙古地区蒙古族人群冠心病的遗传易感性相关,其中基因型KK可能是冠心病的保护因子。

Objective To study the distribution of R219K polymorphism in ATP-binding cassette transporter 1（ABCA1） gene in Mongolian population and the association of this polymorphism with coronary heart disease（CHD）.Methods The target fragments of ABCA1 gene was amplified and analyzed by polymerase chain reaction（PCR）-restriction fragments length polymorphism（RFLP） technique in 115 Mongolian control subjects without CHD and patients with CHD.Results The distribution of ABCAl genotype in both group were in accord with Hardy-Weinberg equilibrium law.ABCA1 gene R219K polymorphisms were exist in Mongolian population,which had three types： RR genotype,RK genotype and KK genotype.The frequency of KK genotype was significantly higher in controls than that in CHD patients（P0.05）.KK genotype was added ratio to 0.411（95% CI 0.17 to 0.99）.Conclusion ABCA1 gene R219K polymorphism was associated with CHD risk in Mongolian population.KK genotype might serve as a genetic protective factor for CHD.