Zeng Zhi-yu, Pu Jie-lin, Tan Chen, Teng Si-yong, Chen Jian-hong, Su Shao-yong, Zhou Xiao-yang, Zhang Shu, Li Yi-shi, Wang Fang-zheng, Gu Dong-feng
Arrhythmia Center, Cardiovascular Institute and Fuwai Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100037, China.
Zhonghua Xin Xue Guan Bing Za Zhi. 2005 Nov;33(11):987-91.
To investigate the association between atrial fibrillation and the single nucleotide polymorphism (SNP) of slow delayed rectifier K(+) channel (I(Ks)) genes in Han nationality Chinese.
Three hundred and eighty of Han nationality Chinese (142 atrial fibrillation, 120 in-hospital and 118 out-hospital control) were enrolled in this study. Asian specific non-synonymous SNPs of KCNQ1 P448R, KCNQ1 R519H, KCNQ1 G643S, KCNE1 G38S and KCNE1 D85N were genotyped by restriction fragment length polymorphism analysis. A newly cloned KCNE4 gene was also screened for any possible SNP.
The minor allele frequency of KCNQ1 P448R, KCNQ1 R519H, KCNQ1 G643S, KCNE1 G38S and KCNE1 D85N in out-hospital subjects was 0.079, 0, 0.042, 0.317 and 0.004, respectively. None of these SNPs was relationed with any atrial fibrillation phenotype. A KCNE4 E145D was discovered and proven statistically to relation significantly to atrial fibrillation by logistic regression analysis (OR = 1.66, P = 0.044). The minor allele frequency of KCNE4 E145D was as high as 0.271 in out-hospital subjects.
None of the SNPs of KCNQ1 P448R, KCNQ1 R519H, KCNQ1 G643S, KCNE1 G38S and KCNE1 D85N was associated with atrial fibrillation phenotype, but KCNE4 E145D may relation to atrial fibrillation. The effect of KCNE4 E145D variation on the function of I(Ks) channel is to be determined.
探讨汉族人群中房颤与缓慢延迟整流钾通道（I(Ks)）基因单核苷酸多态性（SNP）之间的关联。
本研究纳入380名汉族受试者（142例房颤患者，120例住院对照和118例门诊对照）。采用限制性片段长度多态性分析对KCNQ1基因的P448R、R519H、G643S以及KCNE1基因的G38S、D85N等亚洲特异性非同义SNP进行基因分型。同时对新克隆的KCNE4基因进行可能的SNP筛查。
门诊受试者中，KCNQ1基因的P448R、R519H、G643S以及KCNE1基因的G38S、D85N的次要等位基因频率分别为0.079、0、0.042、0.317和0.004。这些SNP均与任何房颤表型无关。发现了一个KCNE4基因的E145D突变，经逻辑回归分析证实其与房颤显著相关（OR = 1.66，P = 0.044）。门诊受试者中KCNE4基因E145D的次要等位基因频率高达0.271。
KCNQ1基因的P448R、R519H、G643S以及KCNE1基因的G38S、D85N等SNP均与房颤表型无关，但KCNE4基因的E145D可能与房颤有关。KCNE4基因E145D变异对I(Ks)通道功能的影响有待确定。
