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Genetic polymorphism of CYP11B2 gene and stroke in the Han Chinese population and a meta-analysis

Yuanchao Tu1, Guanglin Cui, Yujun Xu

  • 1Department of Cardiology, Xinhua Hospital, Hubei, PR China.

Pharmacogenetics and Genomics
|January 14, 2011
PubMed

Insights

Genetic variations in the CYP11B2 gene, specifically the rs1799998 (-344C/T) polymorphism, are associated with an increased risk of ischemic stroke (IS) in the Han Chinese population.

Area of Science:

  • Genetics
  • Cardiovascular Research
  • Neurology

Background:

  • The renin-angiotensin-aldosterone system plays a crucial role in cerebrovascular regulation, affecting blood pressure, vasoconstriction, and vascular damage.
  • Genetic factors influencing this system may impact stroke susceptibility.

Purpose of the Study:

  • To investigate the association between genetic variations in the CYP11B2 gene and the risk of ischemic stroke (IS).
  • To explore the potential contribution of CYP11B2 gene polymorphisms to stroke susceptibility in the Han Chinese population.

Main Methods:

  • Genetic association analyses were conducted on two independent cohorts of ischemic stroke patients and controls.
  • Four single nucleotide polymorphisms (SNPs) in the CYP11B2 gene were genotyped.
  • Meta-analyses were performed to assess the association of the rs1799998 (-344C/T) polymorphism with IS.

Main Results:

  • The rs1799998 (-344C/T) CYP11B2 polymorphism showed an association with overall IS in the initial cohort, but this finding was not replicated in the second cohort.
  • Meta-analyses combining the study data revealed a significant association between the rs1799998 (-344C/T) polymorphism and IS under both dominant and recessive models.
  • No significant associations were found for other tested CYP11B2 SNPs.

Conclusions:

  • The genetic variation rs1799998 (-344C/T) in the CYP11B2 gene may be a contributing factor to the risk of ischemic stroke in the Han Chinese population.
  • This polymorphism appears to confer a moderate effect on IS risk.
Abstract

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