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Background  Neural tube defects (NTDs) are among the most common of all human congenital defects. Over the last two decades, accumulating evidence has made it clear that periconceptional intake of folic acid can significantly reduce the risk of NTD affected pregnancies. This beneficial effect may be related to the ability of folates to donate methyl groups for critical physiological reactions. Choline is an essential nutrient and it is also a methyl donor critical for the maintenance of cell membrane integrity and methyl metabolism. Perturbations in choline metabolism  in vitro  have been shown to induce NTDs in mouse embryos.    Methods  This study investigated whether single nucleotide polymorphisms (SNPs) in human choline kinase A ( CHKA ) gene and CTP:phosphocholine cytidylytransferase ( PCYT1A ) gene were risk factors for spina bifida. Fluorescence-based allelic discrimination analysis was performed for the two  CHKA  intronic SNPs hCV1562388 (rs7928739) and hCV1562393, and  PCYT1A  SNP rs939883 and rs3772109. The study population consisted of 103 infants with spina bifida and 338 non-malformed control infants who were born in selected California counties in the period 1989–1991.    Results  The  CHKA  SNP hCV1562388 genotypes with at least one C allele were associated with a reduced risk of spina bifida (odds ratio = 0.60, 95%CI = 0.38–0.94). The  PCYT1A  SNP rs939883 genotype AA was associated with a twofold increased risk of spina bifida (odds ratio = 1.89, 95% CI = 0.97–3.67). These gene-only effects were not substantially modified by analytic consideration to maternal periconceptional choline intake.    Conclusion  Our analyses showed genotype effects of  CHKA  and  PCYT1A  genes on spina bifida risk, but did not show evidence of gene-nutrient interactions. The underlying mechanisms are yet to be resolved.

CHKA and PCYT1Agene polymorphisms, choline intake and spina bifida risk in a California population