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  

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

作　　者：曹小丽[1] 尹瑞兴[2] 吴东峰[2] 秦超[1] 郑金瓯[1] 邹东华 蓝玉[4] 

机构地区：[1]广西医科大学第一附属医院神经内科,南宁530022 [2]广西医科大学第一附属医院心血管病研究所,南宁530022 [3]解放军第三0三医院神经内科 [4]广西壮族自治区民族医院神经内科

出　　处：《中华老年心脑血管病杂志》2014年第2期124-128,共5页Chinese Journal of Geriatric Heart,Brain and Vessel Diseases

摘　　要：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。Objective To study the relation of ATP-binding cassette transporter A1 （ABCA1） gene polymorphism with coronary heart disease （CHD） and ischemic stroke （IS） in Guangxi Han population.Methods A total of 1134 patients were divided into CHD group （n=565） and IS group （n=569）,and 541 age-and sex-matched healthy subjects served as a control group.Their clinical data were analyzed.SNP of the rs2066715 and rs2740483 genotyes was detected by PCR-RFLP.Realtion of SNP with CHD and IS was analyzed.Results No significant difference was found in the rs2066715 genotype and allelic gene among the 3 groups （P＞0.05） and the SNP was not related with CHD and IS （P＞0.05）.The frequency of rs2740483 allelic 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 rs2740483 genotype of ABCA1 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.

关 键 词：ATP结合匣式转运子 冠心病 卒中 聚合酶链反应 多态性 限制性片段长度 多态性 单核苷酸 等位基因 

分 类 号：R541.4[医药卫生—心血管疾病]