CASP3 genetic variants and susceptibility to atrial fibrillation in Chinese Han population

Abstract

Background: Caspase-3 plays an important role in the initiation and maintenance of atrial fibrillation (AF), but little is known about the role of CASP3 variants in the susceptibility to atrial fibrillation (AF). The purpose of this study was to comprehensively investigate the association between common genetic variants of CASP3 gene and AF in Chinese Han population.

Methods and results: We investigated the association of five variants in CASP3 and the risk of AF in 889 AF patients and 1015 controls. The genotype distribution of the rs4647602 was significantly different between patients with AF and controls (p<0.001), and the A allele frequency was significantly higher in AF patients than in controls (61.0% vs 53.2%; p<0.001). Compared with CC genotype carriers, subjects with AA genotype had significantly increased susceptibility to AF (OR=1.84, p<0.001). Multivariable logistic regression analysis showed that the rs4647602 polymorphism was significantly associated with risk of AF under dominant, recessive and additive genetic model (OR, 1.44-1.64; all p<0.001). There was no association between the other four SNPs (rs6948, rs2696056, rs4647602 and rs4647610) and risk of AF.

Conclusion: The rs4647602 polymorphism is independently associated with the risk of AF in Chinese Han population.

Keywords: Apoptosis; Atrial fibrillation; Caspase-3; Gene; Polymorphism.