A family based triad study evaluating the role of MTHFR gene polymorphisms in spontaneous abortions

Abstract Objective To explore the combined association of MTHFR gene polymorphisms (C677T, A1298C) with spontaneous abortions in a triad group from Telangana State of South Indian population. Materials A total of 80 case families with spontaneous abortions and 100 control families with medically terminated pregnancies were considered. Fetal tissue with Methods DNA was isolated by phenol-chloroform method from both tissue and peripheral blood samples and then genotyped using Amplification Refractory Mutation System–Polymerase Chain Reaction followed by agarose gel electrophoresis. Genotype and allelic frequencies of MTHFR polymorphisms were determined by Odds Ratio with 95% Confidence Intervals and level of significance was considered at p value  Results Statistically significant association was observed with 677C/T polymorphism in case fetal (p = 0.006), maternal (p  Conclusion The present study supports the major role of MTHFR gene polymorphisms in the etiology of spontaneous abortions.