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Association between MMP2 gene polymorphisms and dilated cardiomyopathy in a Chinese Han population

Shiyang Li1, Xiaobin Zeng1, Shihai Wang1

  • 1Division of Cardiology, Panzhihua Central Hospital, Panzhihua, China.

ESC Heart Failure
|March 3, 2023
PubMed
Abstract

Insights

Genetic variations in the MMP2 gene are linked to dilated cardiomyopathy (DCM) susceptibility and outcomes in the Chinese Han population. Specifically, the rs243865 polymorphism affects DCM risk and prognosis, potentially through altered gene expression.

Area of Science:

  • Cardiovascular Genetics
  • Molecular Cardiology
  • Genetic Epidemiology

Background:

  • Dilated cardiomyopathy (DCM) is a common heart condition with unclear pathogenesis.
  • Matrix metalloproteinase 2 (MMP2) plays a role in cardiovascular diseases.
  • The association of MMP2 gene polymorphisms with DCM remains to be fully elucidated.

Purpose of the Study:

  • To investigate the role of MMP2 gene polymorphisms in the susceptibility and prognosis of DCM.
  • To explore the functional mechanism of MMP2 gene variants in DCM.

Main Methods:

  • Genotyping of three MMP2 promoter polymorphisms (rs243865, rs2285052, rs2285053) in 600 DCM patients and 700 controls.
  • Survival analysis for prognosis in a subset of patients.
  • Luciferase reporter assays and mRNA expression analysis for functional studies.

Main Results:

  • The rs243865-C allele was more frequent in DCM patients (P=0.001) and associated with DCM susceptibility.
  • The rs243865-C allele correlated with poor prognosis in DCM patients (HR=2.0, P=0.017).
  • Functional analysis showed rs243865-C allele enhances MMP2 expression by facilitating ZNF354C binding.

Conclusions:

  • MMP2 gene polymorphisms, particularly rs243865, are associated with DCM susceptibility and prognosis in the Chinese Han population.
  • The rs243865 polymorphism influences DCM risk and progression through altered MMP2 gene expression.
Keywords:
Dilated cardiomyopathyMMP2PolymorphismsPrognosisSusceptibility

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