MTHFR C677T polymorphism: A maternal risk factor for having a mentally retarded child in India

The present case-control study examined the association of genetic polymorphism with mental retardation. One common polymorphism (SNPs), C677T in the 5,10- methylenetetrahydrofolate reductase (MTHFR) gene involved in folate metabolism, is known to lower the activity of this enzyme. One hundred sixty mothers (with MR and normal children), from the Eastern Uttar Pradesh, India, were genotyped for MTHFR C677T SNP. Significant association with this SNP was detected, more specifically, with T allele in the mothers of MR children. The relative risk of T (C677T) in mothers for MR-affected pregnancy was 3 (OR 3.179, 95% CI 1.40-7.78). The results indicated statistically significant associations between maternal MTHFR C677T polymorphism and congenital heart defects in foetus under different genetic models.