α-ENaC基因多态性与缺血性脑卒中的关系

Relationship betweenα-ENaC Gene Thr663Ala Polymorphism and Ischemic Stroke

目的了解氨氯吡嗪脒敏感性上皮细胞Na+通道α亚基(α-ENaC)基因Thr663Ala多态性与中国人群缺血性脑卒中发病间的关系。方法利用PCR和分子杂交技术对北京地区294例缺血性脑卒中患者及280例非缺血性脑卒中对照者进行α-ENaC基因Thr663Ala多态性检测和分析。结果Thr663Ala多态性在两组人群中的分布均符合Hardy-Weinberg遗传平衡定律。缺血性脑卒中患者Thr663Ala多态性663Ala携带者构成比(70.75%)以及663Ala等位基因频率(48.64%)分布均明显高于对照组(分别为62.86%和40.89%);同ThrThr纯合子相比,663Ala携带者缺血性中风的比值比为1.429(95%可信限为1.009～2.025),人群归因危险性百分比为11.63%。结论α-ENaC基因Thr663Ala多态性可能是中国人群中缺血性脑卒中发病的遗传学危险因素。

Objective To determine the relationship between Thr663Ala polymorphism in amiloride-sensitive epi thelial sodium channelα-subunit(α-ENaC)gene and isc hemic stroke in Chinese population.Meth-ods Two hundred and ninety-four pati ents with cerebral infarction and280controls without stroke were screened by polymerase chain reaction(PCR)and corresponding Thr663Ala polymorphism pro be hybridization.Results Thr663Ala polymorphism was in agreement with Hardy -Weinberg equilibrium.Both the carriers proportion(70.75%)and the frequ ency(48.64%)of663Ala allele in patients were more prevalent than tha t in controls(62.86%and40.89%)(P<0.05).The presence of at least one663Ala allele conferred an odds ratio for stroke of1.429(95 %CI:1.009～2.025),and the proportion of attributable risk of popul ation(PAR%)was11.63%.Conclusion Thr 663Ala polymorphism ofα-ENaC g ene may be a genetic risk of ischemic stroke in Chinese population.