Anil Kumar Sah 1 , Sweta Shrestha* 2 , Pratkshiya Joshi* 2 , Renu Lakha* 2 , Nisha Shrestha* 2 , Laxmi Sharma 1 ,
Abhinash Chandra 3 , Nitu Shrestha 3 , Yuvraj K.C 2 , Uma Shribastav 6 , Sanu Maya Shrestha 5 , Bhola Rijal 4 ,
Nilam Thakur 7 , Basant Pant 3
1 Annapurna Research Center, Maitighar, Kathmandu
2 SAAN int’l College, Gairidhra, Kathmandu
3 Annapurna Neurological Institutes and Allied Sciences, Kathmandu
4 Om Hospital and Research Center
5 Creator’s IVF Nepal, Satdobato, Kathmandu
6 Infertility Center, Baneshwor, Kathmandu
7 Kathmandu Center for Genomics and Research Laboratory, Kathmandu
Introduction:- Recurrent Pregnancy Loss (RPL) affects approximately 3% of healthy women of reproductive age with undetermined causes. It is a multifactorial distressing disease defined as the miscarriage of two or more consecutive pregnancies before 20 weeks of gestation. Genetic studies have revealed an association between RPL and genetic polymorphisms related to metabolic enzymes, cytokines, coagulation factor, Methylenetetrahydrofolate Reductase (MTHFR) and histocompatibility antigens.
Objectives:- To identify the association of parental Methylenetetrahydrofolate Reductase (MTHFR) C677T gene polymorphism in couples with Recurrent Pregnancy Loss in Nepalese population.
Methods:- The study was designed to determine the frequency of MTHFR C677T polymorphism in couples with RPL in Nepalese population. A total of 70 couples (35 normal, healthy couples and 35 couples with Recurrent Pregnancy Loss) were enrolled in the study. DNA was extracted from the collected samples and then was subjected to Polymerase Chain Reaction (PCR) for the amplification of MTHFR gene. The PCR products were then subjected to RFLP analysis for the detection of the polymorphism.
Results:- During the study, 21.43% of Ala222Val polymorphism was observed among 70 RPL samples while no polymorphism was seen among normal, healthy samples. Our study did not find any association between MTHFR C677T polymorphism and gender (p > 0.05), gestational period (p > 0.05), geographical region (p > 0.05) and menstrual history (p >0.05). However, significant association was seen between MTHFR C677T polymorphism and number of losses (p < 0.05), concluding that the risk of the polymorphism increased with the increase in number of losses.
Conclusion:- Significant variation in the MTHFR C677T genotype with no. of losses among RPL couples were seen but not with other study variables.
Keywords: Methylenetetrahydrofolate Reductase (MTHFR), PCR-RFLP, Recurrent Pregnancy Loss, Nepal