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Methylenetetrahydrofolate Reductase Gene Polymorphism as a Risk Factor for Coronary Artery Disease

K Sowndarya1, Poornima A Manjrekar1, Ramya Shenoy2

  • 1Department of Biochemistry, Kasturba Medical College, Mangalore, Manipal Academy of Higher Education, Manipal, Karnataka 575004 India.

Indian Journal of Clinical Biochemistry : IJCB
|January 21, 2025
PubMed

Insights

Hyperhomocysteinemia (HHcy), linked to coronary artery disease (CAD), is associated with MTHFR gene variations. While MTHFRC677T is common in CAD patients, its direct link to HHcy levels remains debated.

Area of Science:

  • Cardiovascular Genetics
  • Nutrigenetics
  • Molecular Medicine

Background:

  • Hyperhomocysteinemia (HHcy) is a recognized risk factor in the development of coronary artery disease (CAD).
  • Genetic variations, particularly in the Methylenetetrahydrofolate reductase (MTHFR) gene, are implicated in HHcy pathogenesis.
  • The MTHFR gene encodes a key enzyme in homocysteine metabolism.

Purpose of the Study:

  • To review and synthesize findings on the association between MTHFR gene polymorphism and HHcy in patients with CAD.
  • To evaluate the prevalence of specific MTHFR polymorphisms (C677T and A1298C) in relation to CAD.

Main Methods:

  • A PubMed database search was conducted for studies investigating MTHFR gene polymorphism and homocysteine levels in CAD.
  • 143 articles were identified, and 20 relevant studies were selected for detailed analysis.
  • Selected studies assessed MTHFRC677T, MTHFRA1298C, or both genetic variants.

Main Results:

  • The MTHFRC677T polymorphism was detected in all included studies of CAD patients.
  • Estimated homocysteine (Hcy) levels varied from normal to elevated (HHcy).
  • The association between MTHFR gene polymorphisms and Hcy levels in CAD was found to be debatable across the studies.

Conclusions:

  • MTHFR gene polymorphisms, especially MTHFRC677T, are prevalent in individuals with coronary artery disease.
  • The direct correlation between MTHFR gene variants and the degree of hyperhomocysteinemia in CAD requires further investigation.
  • Clarifying this relationship may offer insights into novel therapeutic strategies for CAD prevention and management.

Keywords:
Coronary artery diseaseHomocysteineMTHFRSNP

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