Abstract
ObjectiveTo explore the combined association of MTHFR gene polymorphisms (C677T, A1298C) with spontaneous abortions in a triad group from Telangana State of South Indian population. MaterialsA total of 80 case families with spontaneous abortions and 100 control families with medically terminated pregnancies were considered. Fetal tissue with <20weeks of gestational age and peripheral blood from their respective parents were collected. MethodsDNA 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<0.05. The mRNA secondary structures were predicted and the transcription factor binding sites were determined. ResultsStatistically significant association was observed with 677C/T polymorphism in case fetal (p=0.006), maternal (p<0.001) and paternal (p=0.03) groups compared to their respective control groups. A significant difference in the genotypic distribution of 1298 A/C polymorphism was observed only in the maternal group (p=0.005) compared to controls. The combined frequencies of 677TT/1298AC genotypes revealed a significant association with an increased risk in all the case triad groups compared to their respective controls. The in silico analysis revealed the structural change and transcription factor binding site deviations in the variant allele compared to wild type allele in the mRNA regulation of MTHFR protein. ConclusionThe present study supports the major role of MTHFR gene polymorphisms in the etiology of spontaneous abortions.
Published Version
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