CAJ | 학술논문

目的探讨孤立性心房颤动患者与KCNQ1基因的关系.方法本研究以中国汉族人群为研究对象,入选孤立性心房颤动病例95例,社区对照190例.以单链构象多态性(SSCP)扫描病例组KCNQ1基因变异情况,经DNA双脱氧链终止法直接测序验证SSCP结果.在获得单核苷酸多态性(SNPs)的基础上,采用关联分析分析相关SNPs与心房颤动表现型的关系.结果在孤立性房颤患者中发现了KCNQ1基因3个不同位点的单碱基变异现象.研究还发现,KCNQ1基因 rs760419多态性在病例组与对照组间有显著性差异(P＜0.05),logistic回归分析显示:rs760419多态性与心房颤动显著相关(OR=2.056,P=0.001).结论 KCNQ1基因变异与孤立性心房颤动相关,KCNQ1基因多态性rs760419可以作为孤立性心房颤动患者的易感标志物.
목적 탐토고립성심방전동환자여KCNQ1기인적관계.방법 본연구이중국한족인군위연구대상,입선고립성심방전동병례95례,사구대조190례.이단련구상다태성(SSCP)소묘병례조KCNQ1기인변이정황,경DNA쌍탈양련종지법직접측서험증SSCP결과.재획득단핵감산다태성(SNPs)적기출상,채용관련분석분석상관SNPs여심방전동표현형적관계.결과재고립성방전환자중발현료KCNQ1기인3개불동위점적단감기변이현상.연구환발현,KCNQ1기인 rs760419다태성재병례조여대조조간유현저성차이(P＜0.05),logistic회귀분석현시:rs760419다태성여심방전동현저상관(OR=2.056,P=0.001).결론 KCNQ1기인변이여고립성심방전동상관,KCNQ1기인다태성rs760419가이작위고립성심방전동환자적역감표지물.
Objective Recent studies suggest that mutation of the slow delayed rectitier potassium channel [I(Ks)] contributes to familial atrial fibrillation (FAF).In the current study,we explored the potential association between KCNQ1 polymorphism with lone AF (LAF).Methods Clinical data and blood samples were collected from 95 Han Chinese patients with LAF and matched healthy controls.Variants of the KCNQ1 gene were identified using single-strand conformational polymorphism (SSCP) analysis.A casecontrol association study in KCNQ1 identified four known single-nucleotide polymorphisms (SNPs) during SSCP sereening of the 95 LAF patients and 190 healthy controls.Results Three new variations were identified in KCNQ1 from 95 sporadic LAF including 1 in 5'UTR(c.-22T ＞ C),1 in exon9 synonymous mutation (c.1008C ＞ T) and 1 in intron region (c.1590 + 31A ＞ T).These variations were heterozygous and not presented in 190 healthy controls.Highly significant difference was detected between LAF group and control groups in rs760419 polymorphism.Logistic regression revealed that rs760419 was independent risk factor for LAF (OR =2.056,P =0.001).Conclusions KCNQ1 mutation is associated with LAF and rs760419 polymorphism is a susceptible marker for LAF.