title: [KCNQ1 mutation in patients with lone atrial fibrillation].
abstract: OBJECTIVE
  Recent studies suggest that mutation of the slow delayed rectifier 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 case-control association study in KCNQ1 identified four known single-nucleotide polymorphisms (SNPs) during SSCP screening 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.
authors: Department of cardiology, Ningbo First Affiliated Hospital of the Medical College of Ningbo University, Ningbo, China. fmj76@126.com
authors: Ming-jun
authors: MJ
authors: Feng
authors: Hui-min
authors: HM
authors: Chu
authors: Han-bin
authors: HB
authors: Cui
authors: Bin
authors: B
authors: He
authors: Jing
authors: J
authors: Liu
authors: Yi-bo
authors: YB
authors: Yu
authors: Cai-jie
authors: CJ
authors: Shen
authors: Xiao-Min
authors: XM
authors: Chen
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics; D001281:Atrial Fibrillation / Q000235:genetics*; D016022:Case-Control Studies; D005006:Ethnicity / Q000235:genetics; D005260:Female; D005838:Genotype; D006801:Humans; D051657:KCNQ1 Potassium Channel / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide
chemical_list: D051657:KCNQ1 Potassium Channel; C496909:KCNQ1 protein, human