ABCA1基因多态性与冠心病的相关研究

目的探讨三磷酸腺苷结合盒转运子A1(ATP binding cassette transporter1,ABCA1)基因R219K多态性与冠心病(coronary heart disease,CHD)易感性的关系。方法采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法检测了162例冠心病患者和186名对照的ABCA1基因R219K基因型和等位基因的分布。结果两组基因型频率均符合Hardy-Weinberg平衡。对照组的RK和KK基因型的频率显著高于CHD组(73.66%比56.17%,P<0.05),同样,对照组K等位基因的频率显著高于CHD组(48.66%比36.11%,P<0.01)。调整年龄、性别、体重指数、吸烟和高血压等因素后,携带至少1个219K等位基因的个体显著减少患冠心病的危险(OR=0.38;95%CI=0.22-0.65)。结论ABCA1基因R219K多态性与中国温州汉族人群冠心病的遗传易感性相关,其中K等位基因可能是冠心病的保护因子。

The Association between ABCA1 Gene R219K Polymorphism and Coronary Heart Disease

Objective To explore the association between ATP binding cassette transporter 1(ABCA1) gene R219K polymorphism and coronary heart disease(CHD) in Chinese Han Population.Methods Using polymerase chain reaction-restrictive fragment length polymorphism(PCR-RFLP),162 CHD patients and 186 controls were analyzed for the polymorphism,genotype and allele distribution of ABCA1 gene R219K.Results The distribution of ABCA1 genotype in both groups was in Hardy-Weinberg equilibrium.The frequency of RK and KK genotype in control group was significantly higher than that in CHD group(73.66% vs 56.17%,P<0.05);similarly,the frequency of K allele in control group was significantly higher that in CHD group(48.66% vs 36.11%,P<0.01).After adjusted for the influence of age,gender and other CHD risk factors by multiple Logistic regression analysis,those people who have at least one allele markedly decrease CHD risk(OR=0.38,95%CI=0.22-0.65).Conclusions ABCA1 gene R219K polymorphism is associated with CHD risk in Chinese Han population,K allele may serve as a genetic protective factor for coronary heart disease.