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Association of MTHFR C677T and A1298C Polymorphisms with First-Episode Myocardial Ischemia: A Case-Control Study

Iulia Andreea Badea1,2, Lavinia Carmen Daba1,2, Nicoleta Leopa2

  • 1Faculty of Medicine, Ovidius University, 900470 Constanta, Romania.

Genes
|August 28, 2025
PubMed

Insights

Genetic variations in the methylenetetrahydrofolate reductase (MTHFR) gene are strongly linked to myocardial ischemia risk, especially in older adults. This highlights the potential for genetic screening in cardiovascular risk assessment.

Area of Science:

  • Cardiovascular Genetics
  • Molecular Cardiology
  • Population Genetics

Background:

  • Myocardial ischemia is a leading global cause of death.
  • Genetic factors, particularly methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms, are increasingly recognized as contributors to cardiovascular disease.
  • Understanding the role of MTHFR C677T and A1298C variants in first-episode myocardial ischemia is crucial for risk stratification.

Purpose of the Study:

  • To investigate the association between MTHFR C677T and A1298C polymorphisms and the risk of first-episode myocardial ischemia.
  • To evaluate the influence of these MTHFR gene variants in a Romanian population.
  • To explore potential age-related interactions with genetic predisposition.

Main Methods:

  • A case-control study involving 69 patients with first-episode myocardial ischemia and 55 age- and sex-matched healthy controls.
  • Genotyping of MTHFR C677T and A1298C polymorphisms was performed using a real-time PCR-based assay.
  • Collection of clinical data including blood pressure, BMI, smoking, and alcohol consumption.

Main Results:

  • Significantly higher frequencies of homozygous mutant genotypes (TT for C677T and CC for A1298C) were observed in myocardial ischemia patients.
  • The TT genotype (MTHFR C677T) was found in 71% of patients vs. 7.3% of controls; the CC genotype (A1298C) in 59.4% of patients vs. 7.3% of controls.
  • The association was more pronounced in individuals over 50 years, suggesting an interaction between genetic factors and age.

Conclusions:

  • Homozygous mutant genotypes of MTHFR C677T and A1298C are strongly associated with an increased risk of first-episode myocardial ischemia.
  • This genetic predisposition appears particularly significant in older adults.
  • Genetic screening for MTHFR polymorphisms may aid in early cardiovascular risk stratification.
Abstract

Keywords:
A1298CC677TMTHFR polymorphismgenetic susceptibilitymyocardial ischemia

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