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Related Experiment Video

Updated: Jan 8, 2026

Author Spotlight: Studying the Impact of Maternal Dietary Deficiencies on Long-Term Offspring Health Outcomes
03:19

Author Spotlight: Studying the Impact of Maternal Dietary Deficiencies on Long-Term Offspring Health Outcomes

Published on: June 28, 2024

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Folate Interaction With Genetic Risk for Neural Tube Defects Among Infants in Bangladesh.

Enrique Mondragon-Estrada1,2, Xingyan Wang3, Michael D Uhler1,2

  • 1Division of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts, USA.

Birth Defects Research
|December 11, 2025
PubMed
Summary

Maternal folate intake and genetic factors influence spina bifida (SB) risk in Bangladesh. This study identified novel genomic loci associated with SB, highlighting potential gene-nutrient and gene-environment interactions. Further research is needed to confirm these findings.

Keywords:
Bangladeshfolategenome wide association studyneural tube defect

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Area of Science:

  • Genetics
  • Environmental Health
  • Maternal Health

Background:

  • Neural tube defects like spina bifida (SB) are major global congenital anomalies.
  • Both environmental factors (e.g., folate) and genetic predisposition contribute to SB risk.
  • The interplay between maternal folate intake and genetic risk for SB in Bangladesh remains unquantified.

Purpose of the Study:

  • To investigate the effect of maternal folate intake on genetic risk for spina bifida (SB) in a Bangladeshi population.
  • To identify genomic loci associated with SB, considering gene-folate and gene-arsenic interactions.
  • To explore novel gene interactions in SB development.

Main Methods:

  • Genome-wide association study (GWAS) on infants with and without SB.
  • Imputation of genetic variants from array data.
  • Inclusion of maternal folate intake and arsenic concentration as covariates and interaction terms.

Main Results:

  • Two loci with variants nominally associated with SB were identified: one near WWOX and another near ISOC2.
  • A gene-folate interaction identified a locus in CNTN5 associated with SB.
  • A gene-arsenic interaction revealed a gene-folate interaction effect at a locus in CTNNA2.

Conclusions:

  • Maternal folate intake and arsenic levels, when considered with genetic factors, identified potential genomic loci impacting SB risk.
  • Three loci were associated with SB risk when maternal folate intake was included as a covariate and interaction term.
  • A fourth locus was identified with maternal arsenic levels, suggesting gene-environment interactions warrant further investigation in larger cohorts.