Interaction Between Snps In Folate Pathway Genes And Environment Increase Neural Tube Defects Risk

This study investigated the interactions between SNPs in folate metabolism pathway genes and environmental risk factors on the etiology of neural tube defects (NTDs). Samples from a total of 609 NTD cases were collected from 602 families, 1106 parental samples were collected as controls. A total of 28 SNPs in 12 folate pathway genes were genotyped. Environmental factors included folate supplementation, gestational diabetes mellitus (GDM) and medicine administration before and during pregnancy. Case-parental control and transmission/disequilibrium tests (TDTs) were conducted according to environment cofactor stratification. The MTHFR 677C>T genotype interacts with low folate level and GDM, increasing the occurrence of NTDs. MTR (known as MTHM in the paper under evaluation) 501A>G interacts with GDM, promoting NTDs risk. BHMT 716G>A, in the case of no folate supplementation, contributed to the etiology of NTDs.