新疆维吾尔族、汉族心房颤动与KCNE1 G38S及KCNE4 E145D的相关性研究

Association of single nucleotide polymorphism of KCNE1 and KCNE4 gene with atrial fibrillation in Xinjiang Uygur and Han population

目的 探讨新疆地区维吾尔族及汉族人群心房颤动（房颤）患者与KCNE1 G38S及KCNE4 E145D的关系.方法 收集新疆地区房颤患者维吾尔族组237例及汉族组251例,按年龄和性别1∶1比例配对,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及KCNE4 E145D基因型及等位基因分布.结果 KCNE1 G38S基因型及等位基因频率分布在汉族人群中未证实与房颤有关（P =0.556,P=0.946）,多因素logistic回归分析显示仍无统计学差异（P=0.698）;在维吾尔族人群中有统计学意义（P=0.018,P=0.003）,多因素logistic回归分析,KCNE1 38G是维吾尔族房颤的独立危险因素之一（OR=1.634,95％ CI：1.192 ～2.240,P=0.002）.KCNE4 E145D基因型及等位基因频率分布在维吾尔族及汉族人群中均有统计学意义（P =0.041,P=0.015; P=0.032,P=0.013）,多因素logistic回归分析显示,KCNE4 145D在两人群中均是房颤患者的危险因素之一（OR=1.636,95％CI：1.173～2.281,P=0.004;OR=1.491,95％CI：1.076 ～2.065,P=0.016）.结论 在新疆地区汉族人群中,KCNE1 G38S多态性与房颤无相关性;在维族人群中,KCNE1 G38S与房颤相关.在维吾尔族人群及汉族人群中,KCNF4 E145D与房颤相关.

Objective To investigate the association between the KCNE1 gene G38S and the KCNFA gene E145D and atrial fibrillation in Uygur and Hart populations living in Xinjiang. Methods KCNE1 gene G38S and the KCNE4 gene E145D genotype and frequency were determined using PCR restriction fragment length polymorphism （PCR-RFLP） in 488 atrial fibrillation patients （237 Uygur and 251 Han residents） and 488 age-and-gender matched controls （237 Uygnr and 251 Han residents）. Results Genotype and allele frequency of KCNE1 gene G38S were similar between atrial fibrillation group and control group in the Hart population （ P = 0. 556, P = 0. 946 ）. In the Uygur population, there was a statistical difference between atrial fibrillation group and control group （P = 0. 018 ,P = O. 003 ）. Logistic regression analysis revealed the KCNE1 38 G was one of the independent risk factors for atrial fibrillation in the Uygur population （ OR = 1. 634, 95% CI： 1. 192 - 2. 240, P = 0. 002 ）. The KCNFA gene E145D, genotype and allele frequency were significantly different between atrial fibrillation group and control group in the Uygnr population and Han population（P =0. 041 ,P =0. 015 ;P =0. 032, P =0. 013）. Logistic regression analysis revealed the KCNFA 145D was one of the independent risk factors for atrial fibrillation in the Uygur population and Han population （ OR = 1. 636, 95% CI： 1. 173 - 2. 281, P = 0. 004 ; OR = 1. 491, 95% CI： 1. 076-2. 065, P = 0. 016）. Conclusions KCNE1 G38S is not associated with atrial fibrillation in the Han population while the KCNE1 G38S is associated with atrial fibrillation in the Uygnr population. KCNE4gene E145D is associated with atrial fibrillation in both Uygur population and Han population.