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The Scientific World Journal
Volume 2013, Article ID 373454, 6 pages
Clinical Study

Polymorphisms but Not Mutations of the KCNQ1 Gene Are Associated with Lone Atrial Fibrillation in the Chinese Han Population

1Department of Cardiology, Ningbo No. 1 Hospital Affiliated to Medical College of Ningbo University, 59 Liuting Street, Haishu District, Ningbo 315211, China
2Department of Cardiology, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, 227 Chongqing Southern Road, Shanghai 200092, China
3Department of Human Population Genetics, Institute of Molecular Medicine, Peking University, 5 Yiheyuan Road, Beijing 100871, China

Received 10 January 2013; Accepted 18 March 2013

Academic Editors: Y. Du and Y. Wang

Copyright © 2013 Hui-min Chu et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


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 ( , , 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.