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Methylenetetrahydrofolate reductase gene polymorphism and risk of premature myocardial infarction

S Gülec1, O Aras, E Akar

  • 1Medical School of Ankara University, Turkey.

Clinical Cardiology
|April 17, 2001
PubMed
Abstract

Insights

The methylenetetrahydrofolate reductase (MTHFR) C677T gene variant is linked to an increased risk of premature myocardial infarction (MI) in Turkish men. This finding is particularly relevant given the population

Area of Science:

  • Genetics and Cardiovascular Disease
  • Molecular Biology and Cardiology
  • Population Genetics and Health

Background:

  • Elevated plasma homocysteine is an independent risk factor for cardiovascular disease.
  • A common methylenetetrahydrofolate reductase (MTHFR) gene mutation (677C-T) reduces enzyme activity, increasing homocysteine levels, especially with low folate intake.
  • This genetic variation may predispose individuals to cardiovascular issues.

Purpose of the Study:

  • To investigate if the methylenetetrahydrofolate reductase (MTHFR) T/T genotype is a risk factor for premature myocardial infarction (MI) in the Turkish population.
  • To assess the association between MTHFR C677T polymorphism and early-onset MI in a specific demographic known for lower folate levels.
  • To identify genetic predispositions for cardiovascular disease in Turkish men.

Main Methods:

  • Study included 96 men under 45 with premature myocardial infarction (MI) and 100 age- and gender-matched controls.
  • DNA was extracted from peripheral blood samples.
  • Methylenetetrahydrofolate reductase (MTHFR) C677T genotypes were determined using polymerase chain reaction, restriction mapping with HinfI, and gel electrophoresis.

Main Results:

  • Multivariate analyses identified smoking, MTHFR C/T polymorphism, diabetes, family history of CAD, and hypertension as independent predictors of premature MI.
  • Individuals with the MTHFR T/T genotype had a 5.94 times higher relative risk of MI compared to non-T/T genotypes (p = 0.0016).
  • Genotype frequencies were in Hardy-Weinberg equilibrium, indicating a robust study population.

Conclusions:

  • The C677T transition in the methylenetetrahydrofolate reductase (MTHFR) gene is a significant risk factor for premature myocardial infarction (MI) in Turkish men.
  • This genetic polymorphism, combined with other risk factors, contributes to early-onset cardiovascular disease.
  • Findings highlight the importance of genetic screening for MTHFR variants in at-risk populations.

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