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Impact of MTHFR Gene Polymorphisms C677T and A1298C on Congenital Atrial Septal Defect Risk in an Iranian Cohort

Noor Mohammad Noori1,2, Saeedeh Yaghoubi2, Ali Aghighi3

  • 1Children and Adolescent Health Research Center, Resistant Tuberculosis Institute, Zahedan University of Medical Sciences, Zahedan, Iran.

Reports of Biochemistry & Molecular Biology
|May 7, 2025
PubMed

Insights

The MTHFR gene

Area of Science:

  • Genetics and Cardiology

Background:

  • Congenital heart defects (CHD) are common in newborns.
  • Atrial septal defect (ASD) is a frequent form of CHD.
  • The MTHFR gene is implicated in CHD etiology.

Purpose of the Study:

  • To investigate the association between MTHFR gene polymorphisms (rs1801133 and rs1801131) and ASD in an Iranian population.
  • To assess the risk of ASD related to specific MTHFR variants.

Main Methods:

  • A case-control study involving 81 children with ASD and 85 controls.
  • Genotyping of MTHFR rs1801133 and rs1801131 polymorphisms using PCR-RFLP and ARMS-PCR.

Main Results:

  • The MTHFR rs1801131 variant was associated with a reduced risk of ASD.
  • The MTHFR rs1801133 variant was associated with an increased risk of ASD.
  • Statistical significance was observed across multiple genetic models for both variants.

Conclusions:

  • MTHFR gene variants rs1801133 and rs1801131 may play a role in the development of ASD.
  • These findings contribute to understanding the genetic factors influencing congenital heart defects.
Abstract

Keywords:
Atrial Septal DefectCongenital Heart DefectsFolate MetabolismGenetic PolymorphismMethylenetetrahydrofolate Reductase

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