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Endothelial protein C receptor polymorphisms and risk of myocardial infarction

Pilar Medina1, Silvia Navarro, Javier Corral

  • 1Hospital Universitario La Fe, Centro de Investigación, Av. Campanar 21, 46009 Valencia, Spain.

Haematologica
|September 2, 2008
PubMed

Insights

Haplotypes A1 and A3 in the endothelial protein C receptor gene protect against premature myocardial infarction. These genetic variants may offer additive protection, reducing heart attack risk in carriers.

Area of Science:

  • Genetics
  • Cardiovascular Medicine
  • Molecular Biology

Background:

  • Endothelial protein C receptor (EPCR) gene haplotypes A1 and A3 are linked to venous thromboembolism risk.
  • These haplotypes are identified by specific polymorphisms: 4678G/C for A1 and 4600A/G for A3.

Purpose of the Study:

  • To investigate whether EPCR gene haplotypes A1 and A3 influence the risk of premature myocardial infarction.
  • To determine the potential additive protective effects of these haplotypes against myocardial infarction.

Main Methods:

  • Genotyping of the 4678G/C and 4600A/G polymorphisms in 689 premature myocardial infarction patients and 697 controls.
  • Measurement of activated protein C (APC) and soluble endothelial protein C receptor (sEPCR) levels.

Main Results:

  • Both A1 and A3 haplotypes demonstrated a protective effect against premature myocardial infarction after adjusting for cardiovascular risk factors.
  • Carriers of both A1 and A3 haplotypes exhibited an additive protective effect, with significantly reduced odds ratios for myocardial infarction.
  • The A1 haplotype was associated with increased APC levels, while the A3 haplotype correlated with higher sEPCR levels.

Conclusions:

  • EPCR gene haplotypes A1 and A3 are associated with a reduced risk of premature myocardial infarction.
  • The A1 haplotype confers protection through increased plasma levels of activated protein C.
  • The A3 haplotype offers protection, partly mediated by elevated soluble endothelial protein C receptor levels.
Abstract

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