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Association of MTHFR A1298C polymorphism with conotruncal heart disease

Beyza D Sayin Kocakap1, Cihat Sanli2, Feryal Cabuk1

  • 11Faculty of Medicine,Department of Medical Genetics,Kirikkale University,Kirikkale,Turkey.

Cardiology in the Young
|December 31, 2014
PubMed

Insights

The MTHFR A1298C gene variant is linked to conotruncal heart disease in children. This finding suggests the MTHFR 1298C allele may be a risk factor for this congenital heart defect.

Area of Science:

  • Genetics
  • Cardiology
  • Developmental Biology

Background:

  • Congenital heart diseases (CHDs) are prevalent global anomalies, causing significant childhood morbidity and mortality.
  • Conotruncal anomalies represent about one-third of all CHDs and have complex genetic and environmental etiologies.
  • Hyperhomocysteinaemia, often linked to folate metabolism defects, is implicated in causing conotruncal heart anomalies.

Purpose of the Study:

  • To investigate the association between specific gene polymorphisms related to hyperhomocysteinaemia and conotruncal heart disease (CTD).
  • To evaluate the role of methylenetetrahydrofolate reductase (MTHFR) and nicotinamide N-methyl transferase (NNMT) gene polymorphisms in the etiology of CTD.

Main Methods:

  • Genotyping of three polymorphisms: MTHFR C677T, MTHFR A1298C, and NNMT rs694539.
  • Comparison of genotype distributions between 79 children with CTD and 99 healthy children.
  • Statistical analysis to determine significant associations and odds ratios.

Main Results:

  • A statistically significant difference in genotype distribution was observed for the MTHFR A1298C polymorphism (p<0.05).
  • The MTHFR A1298C polymorphism, specifically the C allele, AC, and CC genotypes, were found to be more frequent in children with CTD.
  • No significant association was found for MTHFR C677T or NNMT rs694539 polymorphisms with CTD.

Conclusions:

  • The MTHFR A1298C polymorphism is associated with an increased risk of conotruncal heart disease.
  • The MTHFR 1298C allele is identified as a potential risk factor for CTD in the studied pediatric population.
  • Further research into folate metabolism and genetic factors is warranted for understanding and potentially preventing CTDs.

Keywords:
MTHFR geneNNMT geneA1298C polymorphismC677T polymorphismConotruncal heart diseasers694539 polymorphism

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