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Frequency of MTHFR G1793A polymorphism in individuals with early coronary artery disease: cross-sectional study

Antonio Ivo Moritz Neto1, Joel Rolim de Moura, Darlene Camati Persuhn

  • 1Ultratito Clinic, FlorianópolisSanta CatarinaBrazil.

Sao Paulo Medical Journal = Revista Paulista De Medicina
|December 7, 2013
PubMed

Insights

This study found no link between the MTHFR G1793A polymorphism and early coronary artery disease (CAD) in the studied population. The prevalence of this genetic marker was similar in patients with and without early CAD, indicating it

Area of Science:

  • Cardiovascular Genetics
  • Molecular Biology
  • Atherosclerosis Research

Background:

  • Atherosclerotic disease is a leading cause of mortality in Brazil, necessitating the identification and management of its risk factors.
  • Elevated plasma homocysteine (hyperhomocysteinemia) is a potential risk factor for vascular diseases.
  • Mutations in the methylenetetrahydrofolate reductase (MTHFR) enzyme, involved in homocysteine metabolism, are being investigated for their role in vascular disease.

Purpose of the Study:

  • To investigate the prevalence of the G1793A polymorphism in individuals with early coronary artery disease (CAD).
  • To determine if the G1793A polymorphism is associated with early-onset CAD or its risk factors.

Main Methods:

  • A cross-sectional study comparing 74 early-onset CAD patients with 40 healthy controls.
  • DNA extraction from blood samples followed by PCR/RFLP and agarose gel electrophoresis to analyze the G1793A polymorphism.

Main Results:

  • The occurrence of G1793A heterozygotes was comparable between the early CAD group (6.25%) and the control group (5%).
  • No statistically significant correlation was found between the G1793A polymorphism and the incidence of early CAD in this population.
  • The study found no association between the G1793A polymorphism and common risk factors for atherosclerosis.

Conclusions:

  • The frequency of the 1793A allele was similar in both the early CAD patient group (3.4%) and the control group (2.5%).
  • There is no observed correlation between the G1793A polymorphism and the occurrence of early coronary artery disease in the population studied.
Abstract

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