Genetic Risk Factor for Recurrent Pregnancy Loss: A Common Mutation (C667T) in MTHFR Gene

Objective: The study aimed to evaluate the correlation among methylenetetrahydrofolate reductase gene (C677T) polymorphism and Recurrent Pregnancy Loss in Andhra Pradesh women. Methodology: Blood samples were obtained from patients with three or more repeated abortions prior to 22 weeks of pregnancy (n = 128) against control (n = 144) who have no pregnancy complications. DNA was extracted through standard Phenol-chloroform method. PCR was done for gene annealing and samples were tested for MTHFR C677T polymorphism using the sanger’s di-deoxy method. Functional significance of the observed C677T mutation was analyzed using computational tools. Results: The frequency of C677T mutation was CC (63%), CT (29%), TT (8%) in the patient group, and CC (79%), CT (19%), and TT (2%) in the control group (P=0.0025), which indicates significant association. Conclusion: The outcome of the study recommends MTHFR mutation may be linked with RPL in the analyzed population.