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Updated: Sep 20, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
[Relationship between alpha-ENaC gene Thr663Ala polymorphism and ischemic stroke]
1Department of Hypertension, Fuwai Heart Hospital, CAMS, PUMC, Beijing 100037, China. zhaoyong 600@sohu.com
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.
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