Risk of spina bifida associated with choline metabolism genes, but unrelated to choline intake

December 20, 2006

A new study finds an association between two genes involved in choline metabolism and the risk of spina bifida. The study, published today in the open access journal BMC Medicine, also shows that this association is independent of dietary choline intake by the mother during pregnancy.

Choline is a nutrient, essential for cardiovascular and brain function, and for cellular membrane composition and repair. Often taken as a lecithin supplement, choline is found in beef liver, egg yolk, peanuts, sunflower seeds, cauliflower and soy. Recent studies had suggested that choline intake during pregnancy might decrease the risk of spina bifida.

James Enaw, from the Texas A&M University System Health Science Center in Houston, Texas and colleagues from the California Birth Defects Monitoring Program, analyzed the presence of two specific variants of the genes encoding the enzymes human choline esterase A (CHKA) and CTP:Phosphocholine cytidylytransferase(PCYT1A) in 103 infants suffering from spina bifida and 338 unaffected infants, who served as controls.

Although the study had limited statistical power, Enaw et al.'s results show that one variant of CHKA is associated with a reduced risk of spina bifida and one variant of PCYTA1A is associated with a two-fold increased risk of spina bifida. Interestingly, these associations are not modified by intake of choline by the mother during pregnancy.

The authors conclude: "The results indicate that dietary choline and choline metabolism genes may affect the risk of spina bifida independently or through some other unknown mechanisms."
-end-
Article:
CHKA and PCYT1A gene polymorphisms, choline intake and spina bifida risk in a California Population.
James Enaw, Huiping Zhu, Wei Yang, Wei Lu, Gary Shaw, Edward Lammer and Richard Finnell
BMC Medicine 2006, in press (21 December 2006)

BioMed Central

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