MTHFR C677T and A1298C variants in Mexican Mestizo infants with neural tube defects from Western Mexico

Our study investigated the role of MTHFR C677T and A1298C variants in infants with neural tube defects (NTDs) from western Mexico. Using TaqMan allelic discrimination assay, we genotyped 101 live-born patients with NTDs (cases) and 247 controls. Our findings do not support that homozygosity or heterozygosity for the variants C677T and A1298C in the MTHFR gene are associated with NTDs in infants. However, since we have the highest worldwide frequency of homozygotes for the MTHFR C677T variant, we cannot rule out that our propensity for NTDs may be related to how such gene variant interacts with other factors, mainly with our secular patterns of inappropriate folate intake.

Automated summary

The study did not find an association between MTHFR gene variants C677T and A1298C and neural tube defects in infants, but suggested a potential interaction with other factors, particularly folate intake.