Low erythrocyte folate status and polymorphic variation in folate-related genes are associated with risk of neural tube defect pregnancy.

Previous studies have shown conflicting findings in linking polymorphic variation in folate-related genes to the risk of neural tube defect pregnancy. Recent evidence points to maternal genotype being important in determining NTD risk. A case-control study was undertaken in 97 mothers of NTD cases from the northern region of the UK.