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MTHFR c.1793G>A polymorphism is associated with congenital cardiac disease in a Chinese population

Jing Xu1, Xiaohan Xu, Lei Xue

  • 1Department of Thoracic and Cardiovascular Surgery, The First Affiliated Hospital of Nanjing Medical University, Peoples Republic of China.

Cardiology in the Young
|April 9, 2010
PubMed

Insights

Genetic variants in the methylenetetrahydrofolate reductase (MTHFR) gene, specifically MTHFR c.1793G>A, are associated with a reduced risk of congenital cardiac disease. This finding suggests a potential role for MTHFR in the susceptibility to heart defects.

Area of Science:

  • Genetics
  • Cardiovascular Disease
  • Metabolic Pathways

Background:

  • Hyperhomocysteinemia is linked to congenital cardiac disease risk.
  • Folate metabolism gene polymorphisms, including MTHFR and MTHFD, may affect homocysteine levels.

Purpose of the Study:

  • To investigate the association between genetic variants in MTHFR and MTHFD genes and the risk of congenital cardiac disease.
  • To explore the role of specific MTHFR and MTHFD polymorphisms in folate metabolism and homocysteine levels in relation to congenital heart defects.

Main Methods:

  • A two-stage case-control study was conducted in a Chinese population.
  • Genotyping was performed for MTHFR c.1793G>A, MTHFR c.677C>T, MTHFR c.1298A>C, MTHFD c.1958G>A, and MTHFD c.401C>T.
  • The study included 1033 patients with congenital cardiac disease and 1067 controls.

Main Results:

  • The MTHFR c.1793GA/AA genotypes were significantly associated with a decreased risk of congenital cardiac disease (OR=0.67, 95% CI=0.54-0.84, p=0.0004).
  • This protective effect was particularly notable in isolated perimembranous ventricular septal defect patients (OR=0.60, 95% CI=0.43-0.83, p=0.0003).

Conclusions:

  • The MTHFR c.1793G>A polymorphism may play a protective role in susceptibility to sporadic congenital cardiac disease.
  • These findings highlight the importance of folate metabolism pathways in the etiology of congenital heart defects.
Abstract

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