Matrix metalloproteinase 1 promoter polymorphisms and risk of myocardial infarction: a case-control study in a

Pablo Román-García1, Eliecer Coto, Julián R Reguero

  • 1Servicio de Metabolismo Oseo y Mineral, Hospital Universitario Central de Asturias, Oviedo, Spain.

Abstract

Insights

Matrix metalloproteinase-1 (MMP-1) promoter polymorphisms are linked to early myocardial infarction (MI) risk in Spanish male smokers. Specific MMP-1 gene variants influence susceptibility to this cardiovascular disease.

Area of Science:

  • Cardiovascular Genetics
  • Molecular Biology
  • Atherosclerosis Research

Background:

  • Atherosclerosis, leading to myocardial infarction (MI), involves inherited and acquired risk factors.
  • Matrix metalloproteinases (MMPs), particularly MMP-1, are implicated in atherosclerotic lesion development.
  • Functional polymorphisms in the MMP-1 gene have been associated with MI risk.

Purpose of the Study:

  • To investigate the association between MMP-1 promoter polymorphisms and early-onset MI.
  • To analyze specific MMP-1 gene variants in a Spanish cohort of male smokers.

Main Methods:

  • A case-control study involving 261 male patients with early MI and 194 healthy male smokers.
  • Genotyping of three MMP-1 promoter polymorphisms (-1607 1G/2G, -519 A/G, -340 T/C) using PCR-restriction fragment length polymorphism.
  • Statistical comparison of allelic, genotypic, and haplotypic frequencies between cases and controls.

Main Results:

  • No significant differences in individual polymorphism frequencies between MI patients and controls.
  • Linkage disequilibrium observed between the -1607 1G/2G and -519 A/G variants.
  • Significant associations found for specific MMP-1 haplotypes with early MI risk: 2G(-1607)-G(-519)-T(-340) (OR=2.40) and 1G(-1607)-G(-519)-T(-340) (OR=0.68).

Conclusions:

  • MMP-1 promoter polymorphisms are associated with the risk of developing early myocardial infarction.
  • Specific MMP-1 haplotypes contribute to varying risks of early MI in Spanish male smokers.

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