Genetic predisposition to necrotizing enterocolitis in premature infants: Current knowledge, challenges, and future directions

Semin Fetal Neonatal Med. 2018 Dec;23(6):387-393. doi: 10.1016/j.siny.2018.08.006. Epub 2018 Aug 18.


The role of genetics in the pathogenesis of necrotizing enterocolitis (NEC) was initially informed by epidemiological data indicating differences in prevalence among different ethnic groups as well as concordance in twins. These early observations, together with major advances in genomic research, paved the way for studies that begin to reveal the contribution of genetics to NEC. Using the candidate gene or pathway approach, several potential pathogenic variants for NEC in premature infants have already been identified. More recently, genome-wide association studies and exome-sequencing based studies for NEC have been reported. These advances, however, are tempered by the lack of adequately powered replication cohorts to validate the accuracy of these discoveries. Despite many challenges, genetic research in NEC is expected to increase, providing new insights into its pathogenesis and bringing the promise of personalized care closer to reality. In this review we provide a summary of genetic studies in NEC along with defining the challenges and possible future approaches.

Keywords: Genetic predisposition; Necrotizing enterocolitis; Preterm infants; Single nucleotide polymorphisms; Toll-like receptors.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Enterocolitis, Necrotizing / genetics*
  • Genetic Loci*
  • Genetic Predisposition to Disease*
  • Genotype*
  • Humans
  • Infant, Newborn
  • Infant, Premature