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Background . Recent studies suggest that mutation of the slow delayed rectifier potassium channel (IKs) contributes to familial atrial fibrillation (FAF). In the current study, we identified common genetic variants of  KCNQ1  and explored the potential association between  KCNQ1  polymorphism with lone AF (LAF).  Methods . Clinical data and blood samples were collected from 190 Han Chinese patients with sporadic AF 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 six known single-nucleotide polymorphisms (SNPs) during SSCP screening of the 190 LAF patients and 190 healthy controls.  Results . One of the SNPs in  KCNQ1  was strongly associated with LAF; significant allelic association was detected rs59233444 ( P  = 0.013, OR = 1.469, 95% confidence interval (CI): 1.083–1.993). A multiple regression analysis indicated that rs59233444 is an independent risk factor for LAF. Twelve new variants were identified in  KCNQ1 , including one in the 5′-UTR, two in the 3′-UTR, six in introns, two synonymous substitutions, and one missense substitution. Variants c.1009C>T, c.1860C>T, and c.+2285C>T were not present in the 190 controls, and the others were identified in controls at various frequencies.  Conclusions . rs59233444, a common SNP but not mutation in the coding regions of the  KCNQ1  gene, is a risk factor for LAF in Chinese Han population.

Polymorphisms but Not Mutations of theKCNQ1Gene Are Associated with Lone Atrial Fibrillation in the Chinese Han Population