MTHFR (C677T) polymorphismand PR (PROGINS) mutation as genetic factors for preterm delivery, fetal death and low birth weight: A Northeast Indian population based study

Preterm delivery (PTD) is one of the most significant contributors to neonatal mortality, morbidity, and long-term adverse consequences for health; with highest prevalence reported from India. The incidence of PTD is alarmingly very high in Northeast India. The objective of the present study is to evaluate the associative role of MTHFR gene polymorphism and progesterone receptor (PR) genemutation (PROGINS) in susceptibility to PTD, negative pregnancy outcome and low birth weights (LBW) in Northeast Indian population. Methods: A total of 209 PTD cases {extreme preterm (< 28 weeks of gestation, n = 22), very preterm (28-32 weeks of gestation, n = 43) and moderate preterm (32-37 weeks of gestation, n = 144) and 194 term delivery cases were studied for MTHFR C677T polymorphism and PR (PROGINS) gene mutation. Statistical analysis was performed using SPSS software. Results: Distribution of MTHFR and PR mutation was higher in PTD cases. Presence of MTHFR C677T polymorphismwas significantly associated and resulted in the increased risk of PTD (p < 0.001), negative pregnancy outcome (p < 0.001) and LBW (p = 0.001); more significantly in extreme and very preterm cases. Presence of PRmutation (PROGINS) also resulted in increased risk of PTDand negative pregnancy outcome; but importantly was found to increase the risk of LBWsignificantly in case of very preterm (p < 0.001) and moderately preterm (p < 0.001) delivery cases. Conclusions: Both MTHFR C677T polymorphism and PR (PROGINS) mutation are evident genetic risk factors associatedwith the susceptibility of PTD, negative pregnancy outcomeand LBW. MTHFR C677Tmay be used as a prognostic marker to stratify subpopulation of pregnancy cases predisposed to PTD; thereby controlling the risks associated with PTD. (C) 2014 The Authors. Published by Elsevier B.V. This is an open access article under the CC BY-NC-ND license