title: MTHFR (C677T) polymorphism and PR (PROGINS) mutation as genetic factors for preterm delivery, fetal death and low birth weight: A Northeast Indian population based study.
abstract: 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) gene mutation (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 polymorphism was 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 PR mutation (PROGINS) also resulted in increased risk of PTD and negative pregnancy outcome; but importantly was found to increase the risk of LBW significantly 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 associated with the susceptibility of PTD, negative pregnancy outcome and LBW. MTHFR C677T may be used as a prognostic marker to stratify subpopulation of pregnancy cases predisposed to PTD; thereby controlling the risks associated with PTD.
authors.affiliation: Department of Biological Science, Gauhati University, Guwahati, Assam, India ; Department of Biotechnology, Pandu College, Guwahati, Assam, India.
authors.forename: Diptika
authors.initials: D
authors.lastname: Tiwari
authors.affiliation: Department of Biotechnology, Pandu College, Guwahati, Assam, India.
authors.forename: Purabi Deka
authors.initials: PD
authors.lastname: Bose
authors.affiliation: Department of Biological Science, Gauhati University, Guwahati, Assam, India.
authors.forename: Somdatta
authors.initials: S
authors.lastname: Das
authors.affiliation: Department of Biotechnology, Gauhati University, Guwahati, Assam, India ; Guwahati Medical College Hospital (GMCH), Guwahati, Assam, India.
authors.forename: Chandana Ray
authors.initials: CR
authors.lastname: Das
authors.affiliation: Department of Biological Science, Gauhati University, Guwahati, Assam, India ; Down Town Hospital, Guwahati, Assam, India.
authors.forename: Ratul
authors.initials: R
authors.lastname: Datta
authors.affiliation: Department of Biological Science, Gauhati University, Guwahati, Assam, India ; Department of Biotechnology, Gauhati University, Guwahati, Assam, India.
authors.forename: Sujoy
authors.initials: S
authors.lastname: Bose
keywords: Low birth weight; MTHFR C677T polymorphism; Negative pregnancy outcome; Northeast India; PR (PROGINS) mutation; Preterm delivery