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Quantitative assessment of association between rs1801133 polymorphism and susceptibility to stroke

Wei Zhang1, Ye Wang, Guorong Bi

  • 1Department of Neurology, Shengjing Hospital of China Medical University, Shenyang, 110004, China.

Cell Biochemistry and Biophysics
|August 10, 2014
PubMed

Insights

Genetic variations in the Methylenetetrahydrofolate reductase (MTHFR) gene, specifically the rs1801133 polymorphism, are linked to an increased risk of stroke. This association is particularly notable in Asian populations, highlighting a significant genetic predisposition.

Area of Science:

  • Genetics
  • Metabolic Disorders
  • Epidemiology

Background:

  • Methylenetetrahydrofolate reductase (MTHFR) is crucial for folate metabolism, DNA synthesis, and methylation.
  • Genetic variations in MTHFR can lead to reduced enzyme activity, potentially increasing stroke susceptibility.

Purpose of the Study:

  • To conduct a comprehensive meta-analysis assessing the association between MTHFR gene polymorphism (rs1801133) and stroke risk.
  • To evaluate the overall and population-specific risks conferred by this polymorphism.

Main Methods:

  • A meta-analysis was performed on 73 studies (10,225 cases, 13,800 controls) published between 1999 and 2012.
  • Data was sourced from major databases including PubMed, MEDLINE, EMBASE, Cochrane Library, Web of Science, and CNKI.
  • Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated for various genetic models.

Main Results:

  • The rs1801133 polymorphism was significantly associated with an elevated stroke risk across all genetic models (e.g., homozygote OR 1.296, allele comparison OR 1.154).
  • Stratified analyses revealed a significantly increased stroke risk among Asian populations in all genetic models (e.g., homozygote OR 1.726, allele comparison OR 1.403).

Conclusions:

  • The rs1801133 MTHFR polymorphism is a contributing factor to stroke risk.
  • The risk associated with this polymorphism is particularly pronounced in Asian populations, warranting further investigation and potential clinical consideration.

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