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Relation between MTHFR (Methylenetetrahydrofolate Reductase) gene functional polymorphisms and magnitude of Recurrent Pregnancy Losses (RPL) among women with low socio-economic status in Asian Indians

Author(s): Dhatri Madduru, Supriya K, Kethora Dirsipam, Prasanna Latha Komaravalli, Syed Sayeeduddin and Parveen Jahan

The present study was intended to investigate the role of MTHFR gene functional polymorphisms, rs1801133 (C677T) and rs1801131 (A1298C) in the susceptibility and severity of Recurrent Pregnancy Losses (RPLs) in women with low socio-economic status among Asian Indians. We screened a total of 221 women that includes 102 RPL patients and 119 healthy controls. Following DNA isolation from whole blood, PCR-RFLP (Polymerase Chain Reaction- Restriction Fragment Length Polymorphism) was carried out for genotyping the selected polymorphisms. Distribution of allele, genotype frequencies and Hardy-Weinberg equilibrium of patient and control groups were analyzed using statistical tools. Results exhibited that women with CC genotype of rs1801131 polymorphism were at 2.5 fold risk towards RPL. With respect to rs1801133 polymorphism we found no significant association with RPL. However, stratified data based on the number of pregnancy losses (≤ 3 and >3) showed that patients with CT genotype at this locus and having more than 3 pregnancy losses were identified to be nearly at 4-fold increased risk for the disease. Additional analysis on combined genotype of both the polymorphisms revealed that subjects with CC-CC combination showed a 2.8-fold risk towards RPL, while patients with CT-CC combination were at 4.5-fold increased risk to experience >3 pregnancy losses. In conclusion, selected polymorphisms of MTHFR gene have different roles with respect to susceptibility and magnitude of RPL. To the best of our knowledge this is the first study emphasizing on the association of polymorphisms with increased magnitude of RPL in women with low socio-economic status among Asian Indians.


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