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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 investigate the relationship between Thr663Ala polymorphism of Na + channel α subunit (α-ENaC) gene and the incidence of ischemic stroke in Chinese population of amiloride-induced susceptible epithelial cells. Methods PCR and molecular hybridization were used to detect and analyze the Thr663Ala polymorphism of α-ENaC in 294 ischemic stroke patients and 280 non-ischemic stroke controls in Beijing. Results The distribution of Thr663Ala polymorphism in both groups was in accordance with the Hardy-Weinberg law of genetic equilibrium. Thr663Ala polymorphism in patients with ischemic stroke 663Ala carriers (70.75%) and 663Ala allele frequency (48.64%) were significantly higher distribution than the control group (62.86% and 40.89% respectively); with ThrThr homozygotes In contrast, the ratio of ischemic stroke patients with 663Ala was 1.429 (95% confidence interval 1.009 to 2.025), with a population-attributable risk of 11.63%. Conclusion The Thr663Ala polymorphism of α-ENaC gene may be a genetic risk factor for ischemic stroke in Chinese population.