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Updated: Jul 18, 2026

Modifying Levels of Maternal Dietary Folic Acid or Choline to Study the Impact of Deficiencies on Offspring Health Outcomes
03:19

Modifying Levels of Maternal Dietary Folic Acid or Choline to Study the Impact of Deficiencies on Offspring Health Outcomes

Published on: June 28, 2024

CHKA and PCYT1A gene polymorphisms, choline intake and spina bifida risk in a California population

James O Ebot Enaw1, Huiping Zhu, Wei Yang

  • 1Center for Environmental and Genetic Medicine, Institute of Biosciences and Technology, Texas A&M University System Health Science Center, Houston, Texas 77030, USA. oenaw@yahoo.co.uk

BMC Medicine
|December 23, 2006
PubMed

Insights

Genetic variations in CHKA and PCYT1A genes influence spina bifida risk. Specific CHKA genotypes may reduce risk, while PCYT1A variations increase it, independent of maternal choline intake.

Area of Science:

  • Genetics
  • Nutritional Science
  • Developmental Biology

Background:

  • Neural tube defects (NTDs) are common congenital conditions.
  • Periconceptional folic acid intake reduces NTD risk.
  • Choline is an essential methyl donor, and its metabolism is critical for development.

Purpose of the Study:

  • To investigate the association between single nucleotide polymorphisms (SNPs) in the choline kinase A (CHKA) and CTP:phosphocholine cytidylytransferase (PCYT1A) genes and the risk of spina bifida.
  • To explore potential gene-nutrient interactions with maternal choline intake.

Main Methods:

  • Genotyping of CHKA SNPs (hCV1562388, hCV1562393) and PCYT1A SNPs (rs939883, rs3772109) using fluorescence-based allelic discrimination.
  • Case-control study involving 103 infants with spina bifida and 338 controls.
  • Analysis of genotype effects and potential modification by maternal periconceptional choline intake.

Main Results:

  • CHKA SNP hCV1562388 genotypes with at least one C allele were associated with a reduced risk of spina bifida (OR=0.60).
  • PCYT1A SNP rs939883 genotype AA was associated with an increased risk of spina bifida (OR=1.89).
  • These gene effects were not significantly modified by maternal choline intake.

Conclusions:

  • Specific genotypes of CHKA and PCYT1A genes are associated with altered spina bifida risk.
  • No evidence of gene-nutrient interaction between these SNPs and maternal choline intake was found.
  • The biological mechanisms underlying these genetic associations require further investigation.
Abstract

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