新疆维吾尔族、汉族心房颤动KCNE1 G38S单核苷酸多态性研究

Single nucleotide polymorphism of KCNE1 G38S in atrial fibrillation of Uygurs and Hans people in Xinjiang

目的 探讨新疆地区维吾尔族及汉族人群心房颤动（房颤）与KCNE1 G38S的关系。方法 收集新疆地区维吾尔族房颤患者237例及汉族房颤患者251例，以年龄和性别为配对条件，按1：1比例分别选取维吾尔族对照237例及汉族对照251例，采用聚合酶链反应．限制性内切酶片段长度多态性（PCR-RFLP）鉴定KCNE1 G38S基因型及等位基因分布。结果 在汉族人群中，KCNE1 G38S基因型及等位基因频率，未证实与房颤有关（GG，GS，SS3种基因型在病例组及对照组为122：116，98：109，31：26，P=0．556；G，S等位基因频率在病例组及对照组为342：341，160：161，P=0．946）。进一步控制冠心病、高血压、糖尿病、吸烟及饮酒等混杂因素后，多因素Logistic回归分析显示差异仍无统计学意义（雎0．698）。在维族人群中，病例组与对照组之间基因型及等位基因频率分布差异有统计学意义（GG，GS，SS3种基因型在病例组及对照组为96：72，103：106，38：59，P=0．018；G，S等位基因频率在病例组及对照组为295：250，179：224，P=0．003）。多因素Logistic回归分析显示，KCNE1 G38S是维吾尔族房颤患者的独立危险因素之一（OR：1．634，95％CI：1．192-2．240，P=0．002）。结论KCNE1G38S单核苷酸多态性在维吾尔和汉族房颤患者中的分布有差异。在汉族人群中，KCNE1 G38S多态性与房颤元相关性；在维族人群中，KCNE1 G38S是维吾尔族房颤患者的独立危险因素之一。

Objective To explore the association between atrial fibrillation （AF） and single nucleotide polymorphism （SNP） of KCNE1 G38S in Uygurs and Hans people in Xinjiang area. Methods 237 Uygur patients and 251 Han patients with AF were collected. According to the mating conditions of age and gender, 237 Uygur and 251 Han people were chosen as normal controls in 1 ： 1 ratio. The KCNE1 G38S genotype and allele frequency distribution were determined using PCR restriction fragment length polymorphism （PCR-RFLP）. Results In Hans people, KCNE1 gene G38S genotype and allele frequency were not confirmed to be associated with AF （GG, GS, SS ： 122： 116 vs 98 ： 109 vs 31 ： 26, P=0.556; G, S： 342： 341 vs 160： 161, P=0.946）. After furthermore control of mixed factors such as coronary arterial disease, hypertension, diabetes mellitus, smoking and alcoholic, multivariate Logistic regression analysis still revealedno difference （P=0.698）. In Uygurs people, significant difference was found in genotype and allele frequency between case and control groups （GG, GS, SS： 96：72 vs 103：106 vs 38： 59, P=0.OI8; G, S：295：250 vs 179： 224, P=0.003）. Multivariate Logistic regression analysis showed that KCNE1 G38S was independent risk factor of Uygurs （OR=1.634,95% CI： 1.192-2.240, P=0.002）. Conclusions Difference is found in distribution of SNP of KCNE1 G38S between Uygur and Han people. SNP of KCNE1 G38S is not associated with AF in Hans but is the independent risk factor in Uygurs.