三磷酸腺苷结合盒转运子A1基因多态性与冠心病及缺血性脑卒中的关系研究

目的探讨三磷酸腺苷结合盒转运子A1(ATP-binding cassette transporter A1,ABCA1)基因多态性与广西汉族人群冠心病(CHD)及缺血性脑卒中(IS)易感的相关性。方法选择住院患者1134例,根据诊断分为CHD组565例、IS组569例,同时选择年龄、性别匹配的健康人群541例作为对照组,进行临床资料分析,采用聚合酶链反应-限制性片段长度多态性检测ABCA1基因的单核苷酸多态性(SNP)位点rs2066715和rs2740483的基因分型,探讨其与CHD及IS易感的相关性。结果 3组rs2066715基因型及等位基因频率差异无统计学意义(P>0.05),该SNP与CHD及IS的易感无相关性(P>0.05);与对照组比较,CHD组和IS组rs2740483等位基因和基因型频率分布差异均有统计学意义(P<0.05,P<0.01);该SNP与CHD及IS的易感有相关性(P<0.05)。结论 ABCA1rs2740483与广西汉族CHD和IS易感相关,携带野生型等位基因的个体有更高的罹患风险。

Relation of ATP-binding cassette transporter A1 gene polymorphism with coronary heart disease and ischemic stroke

Objective To study the relation of ATP-binding cassette transporter A1(ABCAl)gene polymorphism with coronary heart disease(CHD)and ischemic stroke(IS)in Guangxi Han population.Methods A total of 1134patients were divided into CHD group(n=565)and IS group(n=569),and 541age-and sex-matched healthy subjects served as a control group.Their clinical data were analyzed.SNP of the rs2066715and rs2740483genotyes was detected by PCR-RFLP. Realtion of SNP with CHD and IS was analyzed.Results No significant difference was found in the rs2066715genotype and allelic gene among the 3groups(P>0.05)and the SNP was not related with CHD and IS(P>0.05).The frequency of rs2740483allelic gene and genotype was significantly higher in CHD group and IS group than in control group(P<0.05,P<0.01)and the SNP was related with CHD and IS(P<0.05).Conclusion The rs2740483genotype of ABCAl is related with CHD and IS in Guangxi Han population.Inviduals carrying wild type allelic gene are at a higher risk to suffer from CHD and IS.