Abstract
ObjectiveThe aim of this study was to identify the association of parental MTHFR C677T gene polymorphism in couples with and without RPL history.ResultsDuring the study, 21.4% (15/70) of Ala222Val polymorphism was observed among RPL couples while no polymorphism was seen among normal, healthy couples. 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. Significant variation in the MTHFR C677T genotype with number of losses among RPL couples were seen but not with other study variables.
Highlights
Recurrent pregnancy loss (RPL) is defined as two or more consecutive miscarriages before 20 weeks’ of gestation
Recurrent pregnancy loss is considered to be associated with inherited thrombophilia that take in diverse conditions including the thermolabile variation of the 5,10-methylenetetrahydrofolate reductase (MTHFR) and the mutation is associated with hyperhomocysteinemia
The MTHFR polymorphism was seen on 21.42% (15/35) couples with RPL and was not seen in any of the normal couples (Table 1)
Summary
Recurrent pregnancy loss (RPL) is defined as two or more consecutive miscarriages before 20 weeks’ of gestation. It is a multifactorial disorder like genetic disorders, endocrine dysfunctions, uterine pathologies, autoimmune diseases, acquired and inherited thrombophilia as well as environmental factors are major concern in gynecology [1–4]. Various studies showed that the inherited thrombophilic polymorphisms are significant risk factors for pre-eclampsia, placental abruption, stillbirth and fetal growth restriction [5, 6]. Recurrent pregnancy loss is considered to be associated with inherited thrombophilia that take in diverse conditions including the thermolabile variation of the 5,10-methylenetetrahydrofolate reductase (MTHFR) and the mutation is associated with hyperhomocysteinemia. The enzyme MTHFR plays a critical role in the folate metabolism pathway, and regulates the intracellular folate pool for synthesis and methylation of DNA [8, 9]
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