KCNQ1 mutation in patients with lone atrial fibrillation
10.3760/cma.j.issn.0253-3758.2013.01.003
- VernacularTitle:KCNQ1基因与孤立性心房颤动患者关系的探讨
- Author:
Ming-Jun FENG
1
;
Hui-Min CHU
;
Hanbin CUI
;
Bin HE
;
Jing LIU
;
Yi-Bo YU
;
Cai-Jie SHEN
;
Xiao-Min CHEN
Author Information
1. 315211,宁波大学医学院附属第一医院心内科
- Keywords:
Fibrillation;
Potassium channel;
Genes
- From:
Chinese Journal of Cardiology
2013;41(1):8-12
- CountryChina
- Language:Chinese
-
Abstract:
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.
