Zhang et al (2013) have studied the association between several genes involved in folate metabolism and the risk of developing Neural Tube Defects, of which are the most common and severe congenital malformation worldwide.
This meta-analysis examined 85 studies focusing on MTHFR C677T, MTHFR A1298C, MTR A2756G, MTRR A66G and RFC-1 A80G and thier links with the development of Neural Tube Defects. Overall the evdience showed a strong correlation with the MTHFR C677T mutation and a potential assocation with the RFC-1 mutation and the development of Neural Tube Defects. The other mutations involved in folate metabolism and methylation were not found to be linked with NTD’s.
