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Choline Metabolism Genes Affect Spina Bifida Risk

Polymorphisms in two genes found to either reduce or increase risk of the neural tube defect

THURSDAY, Dec. 28 (HealthDay News) -- The risk of spina bifida may be affected by two genes involved in choline metabolism but not by dietary choline intake, according to the results of a study published Dec. 21 in the open access journal BMC Medicine.

Richard H. Finnell, Ph.D., of the Texas A&M University System Health Science Center in Houston, and colleagues tested 103 infants with spina bifida and 338 unaffected control infants for the presence of single nucleotide polymorphisms (SNPs) in the human choline kinase A (CHKA) gene and the CTP:phosphocholine cytidylytransferase (PCYT1A) gene.

The researchers found that CHKA SNP hCV1562388 genotypes with at least one C allele were associated with a reduced risk of spina bifida (odds ratio, 0.60) while the PCYT1A SNP rs939883 genotype AA was associated with a twofold increased risk of spina bifida (OR, 1.89). They also found that these associations were independent of maternal dietary choline intake during pregnancy.

"Future studies of additional SNPs within the CHKA and PCYT1A genes should be investigated as potential predictors of spina bifida risks," the authors conclude.

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