Objective: To determine the relationship between Thr663Ala polymorphism in amiloride-sensitive epithelial sodium channel alpha-subunit (alpha-ENaC) gene and ischemic stroke in Chinese population.
Methods: Two hundred and ninety-four patients with cerebral infarction and 280 controls without stroke were screened by polymerase chain reaction (PCR) and corresponding Thr663Ala polymorphism probe hybridization.
Results: Thr663Ala polymorphism was in agreement with Hardy-Weinberg equilibrium. Both the carriers proportion (70.75%) and the frequency (48.64%) of 663Ala allele in patients were more prevalent than that in controls (62.86% and 40.89%) (P < 0.05). The presence of at least one 663Ala allele conferred an odds ratio for stroke of 1.429 (95%CI: 1.009-2.025), and the proportion of attributable risk of population (PAR%) was 11.63%.
Conclusion: Thr 663Ala polymorphism of alpha-ENaC gene may be a genetic risk of ischemic stroke in Chinese population.