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Association of KCNE1 genetic polymorphisms with atrial fibrillation in a Chinese Han population

Juan Yao1, Yi-Tong Ma, Xiang Xie

  • 1Department of Cardiology, First Affiliated Hospital of Xinjiang Medical University, Urumqi, P.R. China.

Genetic Testing and Molecular Biomarkers
|October 2, 2012
PubMed

Insights

Genetic variations in the KCNE1 gene are linked to an increased risk of atrial fibrillation (AF) in the Chinese Han population. Specifically, the rs1805127 polymorphism emerged as an independent risk factor for AF development.

Area of Science:

  • Cardiovascular Genetics
  • Molecular Cardiology
  • Population Genetics

Background:

  • Atrial fibrillation (AF) is a common arrhythmia with complex genetic underpinnings.
  • The KCNE1 gene plays a crucial role in cardiac ion channel function, influencing cardiac electrical activity.

Purpose of the Study:

  • To investigate the association between KCNE1 gene polymorphisms and the risk of atrial fibrillation (AF).
  • To evaluate the role of specific single-nucleotide polymorphisms (SNPs) in AF susceptibility within a Chinese Han population.

Main Methods:

  • Genotyping of 307 AF patients and 330 controls using polymerase chain reaction-restriction fragment length polymorphism.
  • Analysis of two KCNE1 SNPs: rs1805127 and rs1892593.
  • Logistic regression analysis to identify independent risk factors.

Main Results:

  • The rs1805127 polymorphism showed significant differences in genotype and allele frequencies between AF patients and controls (p=0.016 and p=0.005, respectively).
  • rs1805127 was associated with left atrial and left ventricular diameters in AF patients (p<0.001).
  • Logistic regression identified rs1805127 (AG and GG genotypes) as an independent risk factor for AF (OR=1.66-2.03).

Conclusions:

  • The KCNE1 gene polymorphism, particularly rs1805127, is associated with an elevated risk of atrial fibrillation in the Chinese Han population.
  • These findings contribute to understanding the genetic determinants of AF and may inform future risk stratification strategies.
Abstract

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