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Methylenetetrahydrofolate reductase genotypes and early-onset coronary artery disease

A Mager1, S Lalezari, T Shohat

  • 1Department of Cardiology, Rabin Medical Center, Beilinson Campus, Petah-Tiqva, and The Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.

Circulation
|December 14, 1999
PubMed

Insights

Homozygosity for the methylenetetrahydrofolate reductase (MTHFR) 677C-->T mutation is linked to a higher risk of early-onset coronary artery disease (CAD). Lower plasma folate levels were also observed in individuals with this genetic mutation and premature CAD.

Area of Science:

  • Genetics and Cardiovascular Medicine
  • Nutritional Genomics

Background:

  • The methylenetetrahydrofolate reductase (MTHFR) gene's 677C-->T mutation is linked to hyperhomocysteinemia.
  • The association between MTHFR gene mutations and coronary artery disease (CAD) remains uncertain.

Purpose of the Study:

  • To investigate the relationship between MTHFR gene variants and the age of onset for coronary artery disease (CAD).

Main Methods:

  • Study included 169 patients with myocardial infarction or angiographically confirmed CAD and 313 control subjects.
  • Genotyping for MTHFR 677C-->T mutation and measurement of plasma folate levels were performed.
  • Statistical analyses, including odds ratios and multiple regression, were used to assess associations.

Main Results:

  • Homozygosity for the MTHFR 677C-->T mutation was significantly more prevalent in patients with early CAD onset (<45 years) compared to later onset and controls (28% vs. 13% and 14%).
  • Lower plasma folate levels were found in TT homozygotes with early CAD onset.
  • The MTHFR TT genotype was independently associated with CAD, even with fewer traditional risk factors.

Conclusions:

  • Homozygosity for the MTHFR 677C-->T mutation is common and increases the risk of premature CAD in this population.
  • The findings suggest a genetic predisposition to early-onset CAD related to MTHFR genotype.
Abstract

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