title: Bladder exstrophy-epispadias complex and the role of methylenetetrahydrofolate reductase C677T polymorphism: A case control study.
abstract: OBJECTIVE
  The Bladder Exstrophy-Epispadias Complex (BEEC) is the most serious form of midline abdominal malformation. The etiology of BEEC is unknown and is thought to be multifactorial. Methylenetetrahydrofolate reductase (MTHFR) polymorphism C677T is strongly associated with other midline abnormalities such as neural tube defects. No proper case-control study existed comparing MTHFR polymorphism with BEEC. We sought to find an association with MTHFR polymorphism and patients with bladder exstrophy (BE).
  
  
  METHODS
  The design of the study was a case-control study, involving 50 children with BEEC and 50 normal healthy school children. Genetic analysis for MTHFR 677 polymorphism was carried out after DNA extraction and polymerase chain reaction amplification. Epidemiological analysis was done by using the birth defect questionnaire on parents of BEEC.
  
  
  RESULTS
  Forty-two classical BE, two cloacal exstrophies (CE), four epispadias, and two exstrophy variant patients were a part of this study. Severe variety of BE had a significant association with C667T MTHFR polymorphism as compared to the normal control population (P = 0.01).
  
  
  CONCLUSIONS
  C677T MTHFR polymorphism has a strong association with severe variety (CE) of BEEC occurrence.
authors: Department of Pediatric Surgery, Army Hospital R&R, Dhaula Kuan, India.
authors: Venkat Shankar
authors: VS
authors: Raman
authors: All India Institute of Medical Sciences, New Delhi, India.
authors: Minu
authors: M
authors: Bajpai
authors: All India Institute of Medical Sciences, New Delhi, India.
authors: Abid
authors: A
authors: Ali
keywords: Bladder exstrophy; cloacal exstrophy; methylenetetrahydrofolate reductase polymorphism c677t