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Genetic Studies of Necrotizing Enterocolitis

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Key Personnel

  • Anthony Sandler, MD
  • Ashanti Franklin, MD
  • Mariam Said, MD
  • Joseph M. Devaney, PhD
  • Naomi C. Luban, MD
  • Khodayar Rais-Bahrami, MD

Necrotizing enterocolitis (NEC) is a devastating gastrointestinal emergency that affects approximately 10% of premature neonates. The pathogenesis of NEC remains poorly understood. We hypothesize that some preterm infants exhibit an exaggerated inflammatory response, leading to the production of reactive oxygen species (ROS) and intestinal epithelial necrosis. The purpose of this study is to determine if differences in redox homeostasis can be measured using metabolomic profiling and if functional single nucleotide polymorphisms (SNPs) in antioxidant enzymes are associated with NEC.

Institutional Review Board approval and parental/guardian consent was obtained. Buccal swabs for DNA extraction were collected from infants that were of the following clinical characteristics: less than nor equal to 32 weeks gestation and/or a diagnosis of NEC. Patients with congenital heart disease (except PDA), major congenital anomalies, genetic disorders, and inherited blood/metabolic disorders were excluded. Controls consisted of infants less than or equal to 32 weeks gestation without NEC or spontaneous intestinal perforation. Metabolomic profiling was performed on plasma samples. A TaqMan allelic discrimination assay was used to determine alleles. Statistical analysis was completed using Welch’s two-sample t-test and logistic regression.