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Variants of folate metabolism genes and risk of left-sided cardiac defects

Laura E Mitchell1, Jin Long, Jennifer Garbarini

  • 1Institute of Biosciences and Technology, Texas A&M University System Health Science Center, Houston, Texas, USA.

Birth Defects Research. Part A, Clinical and Molecular Teratology
|September 25, 2009
PubMed

Insights

This study found little evidence linking folate-related genes to left-sided congenital heart defects (CHDs). Larger studies are needed to fully explore the relationship between folate and CHDs.

Area of Science:

  • Genetics
  • Developmental Biology
  • Public Health

Background:

  • Congenital heart defects (CHDs) are the most common serious birth defects.
  • Maternal folate status and genetic variants in folate-related genes are potential risk factors for CHDs.
  • Previous research has been limited by small sample sizes and phenotypic heterogeneity.

Purpose of the Study:

  • To investigate the association between nine genetic variants in eight folate-related genes and left-sided cardiac defects.
  • To assess maternal and inherited genetic effects on CHD risk.

Main Methods:

  • The study analyzed a cohort of 386 case-parent triads.
  • Log-linear analyses were employed to examine genetic associations.

Main Results:

  • Marginal evidence suggested a link between maternal MTR A2756G and inherited BHMT G742A genotypes and CHD risk.
  • These associations did not remain significant after controlling for the false-discovery rate.

Conclusions:

  • The study provides limited evidence for a folate-related etiology in this subset of CHDs.
  • Larger sample sizes and more comprehensive evaluations of folate pathway genes are necessary to definitively establish the relationship.
Abstract

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