Genetic alterations in necrotizing enterocolitis

Semin Perinatol. 2017 Feb;41(1):61-69. doi: 10.1053/j.semperi.2016.09.019. Epub 2016 Nov 9.


An underlying genetic predisposition to necrotizing enterocolitis (NEC) is increasingly being recognized. Candidate gene or pathway approaches as well as genome-wide approaches are beginning to identify potential pathogenic variants for NEC in premature infants. However, a majority of these studies have not yielded definitive results because of limited sample size and lack of validation. Despite these challenges, understanding the contribution of genetic variation to NEC is important for providing new insights into the pathogenesis of NEC as well as allowing for targeted care of infants with inherent susceptibility. In this review we provide a summary of published genetic association studies in NEC along with defining the challenges and possible future approaches.

Keywords: Genetic predisposition; Necrotizing enterocolitis; Preterm newborn; Single nucleotide polymorphism.

Publication types

  • Review

MeSH terms

  • Enterocolitis, Necrotizing / genetics*
  • Enterocolitis, Necrotizing / immunology
  • Enterocolitis, Necrotizing / prevention & control
  • Enterocolitis, Necrotizing / therapy
  • Gene Expression Regulation, Developmental / immunology
  • Genetic Predisposition to Disease / genetics*
  • Genetic Variation
  • Genome-Wide Association Study*
  • Humans
  • Immunity, Innate
  • Infant, Extremely Premature
  • Infant, Newborn
  • Infant, Premature, Diseases / genetics*
  • Infant, Premature, Diseases / immunology
  • Infant, Premature, Diseases / prevention & control
  • Infant, Premature, Diseases / therapy
  • Inflammation
  • Intestinal Mucosa / immunology
  • Intestinal Mucosa / microbiology
  • Intestinal Mucosa / physiopathology
  • Molecular Targeted Therapy / trends
  • Mutation / genetics
  • Polymorphism, Single Nucleotide