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Related Experiment Videos

[Relationship between alpha-ENaC gene Thr663Ala polymorphism and ischemic stroke].

Y Zhao1, L Y Ma, Y X Liu

  • 1Department of Hypertension, Fuwai Heart Hospital, CAMS, PUMC, Beijing 100037, China. zhaoyong 600@sohu.com

Zhongguo Yi Xue Ke Xue Yuan Xue Bao. Acta Academiae Medicinae Sinicae
|August 9, 2003
PubMed
Summary

The Thr663Ala polymorphism in the alpha-ENaC gene is linked to an increased risk of ischemic stroke in the Chinese population. This genetic variant may contribute to stroke development.

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Area of Science:

  • Genetics
  • Molecular Biology
  • Neurology

Context:

  • Ischemic stroke is a leading cause of death and disability worldwide.
  • Genetic factors play a significant role in stroke susceptibility.
  • The amiloride-sensitive epithelial sodium channel alpha-subunit (alpha-ENaC) gene is implicated in ion transport and blood pressure regulation.

Purpose:

  • To investigate the association between the Thr663Ala polymorphism in the alpha-ENaC gene and the risk of ischemic stroke.
  • To evaluate the prevalence of this polymorphism in a Chinese population with and without ischemic stroke.

Summary:

  • A case-control study was conducted on 294 ischemic stroke patients and 280 controls.
  • Polymerase chain reaction (PCR) and probe hybridization were used to genotype the Thr663Ala polymorphism.

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  • The 663Ala allele was significantly more frequent in patients (48.64%) than in controls (40.89%), with an odds ratio of 1.429 for stroke (95% CI: 1.009-2.025).

    • Impact:

    • The Thr663Ala polymorphism in the alpha-ENaC gene may represent a genetic risk factor for ischemic stroke in the Chinese population.
    • This finding could inform future research on stroke prevention and personalized medicine.
    • Understanding the genetic underpinnings of stroke can lead to targeted therapeutic strategies.