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Associations between matrix metalloproteinase gene polymorphisms and the development of cerebral infarction

J H Zhao1,2, Y M Xu1, H X Xing2

  • 1The First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan, China.

Genetics and Molecular Research : GMR
|January 20, 2016
PubMed

Insights

The MMP9 rs3918242 gene variant increases ischemic stroke risk in Chinese individuals. This risk is further elevated in those with higher body mass index (BMI), suggesting gene-environment interaction.

Area of Science:

  • Genetics
  • Neurology
  • Epidemiology

Background:

  • Ischemic stroke is a leading cause of disability and mortality worldwide.
  • Matrix metalloproteinases (MMPs) play crucial roles in extracellular matrix remodeling and have been implicated in cerebrovascular diseases.
  • Genetic variations in MMP genes may influence individual susceptibility to ischemic stroke.

Purpose of the Study:

  • To investigate the association between specific polymorphisms in Matrix Metalloproteinase 3 (MMP3) rs3025058 and Matrix Metalloproteinase 9 (MMP9) rs3918242 and the risk of developing ischemic stroke.
  • To explore potential interactions between these gene polymorphisms and body mass index (BMI) in relation to ischemic stroke risk within a Chinese population.

Main Methods:

  • A case-control study involving 335 ischemic stroke patients and 335 healthy controls from a Chinese population.
  • Genotyping of MMP3 rs3025058 and MMP9 rs3918242 polymorphisms was performed using polymerase chain reaction (PCR) coupled with restriction fragment length polymorphism (RFLP).
  • Multivariate logistic regression analysis was employed to assess the association between genotypes and ischemic stroke risk, adjusting for potential confounders and examining gene-BMI interactions.

Main Results:

  • The CC genotype of the MMP9 rs3918242 polymorphism was significantly associated with an increased risk of ischemic stroke compared to the TT genotype (OR = 5.47, 95% CI = 2.64-12.38).
  • The TC+CC genotypes of MMP9 rs3918242 were associated with an elevated risk of ischemic stroke in individuals with higher BMI (OR = 1.81, 95% CI = 1.03-3.22).
  • No significant association was found for the MMP3 rs3025058 polymorphism with ischemic stroke risk.

Conclusions:

  • The MMP9 rs3918242 polymorphism is a potential risk factor for ischemic stroke in the Chinese population.
  • An interaction between MMP9 rs3918242 gene polymorphism and BMI may contribute to the risk of ischemic stroke.
  • Further research is warranted to elucidate the precise mechanisms underlying this association and interaction.

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