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Genetic alterations in necrotizing enterocolitis.

Alain Cuna1, Venkatesh Sampath1

  • 1Division of Neonatology, Department of Pediatrics, Children's Mercy Hospital, University of Missouri-Kansas City, 2401 Gillham Rd, Kansas City, MO 64108.

Seminars in Perinatology
|November 13, 2016
PubMed
Summary
This summary is machine-generated.

Genetic factors likely contribute to necrotizing enterocolitis (NEC) in premature infants. Current studies face challenges, but identifying genetic variants is crucial for understanding NEC pathogenesis and tailoring infant care.

Keywords:
Genetic predispositionNecrotizing enterocolitisPreterm newbornSingle nucleotide polymorphism

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Area of Science:

  • Neonatal Medicine
  • Genetics
  • Gastroenterology

Background:

  • Necrotizing enterocolitis (NEC) is a severe gastrointestinal disease affecting premature infants.
  • A genetic predisposition to NEC is increasingly acknowledged, prompting research into its genetic underpinnings.
  • Previous genetic studies often lacked sufficient sample size and validation, limiting definitive conclusions.

Purpose of the Study:

  • To review published genetic association studies in necrotizing enterocolitis.
  • To highlight the challenges encountered in NEC genetic research.
  • To propose future directions for investigating genetic contributions to NEC.

Main Methods:

  • Systematic review of published genetic association studies related to NEC.
  • Analysis of candidate gene and genome-wide association study (GWAS) approaches.
  • Discussion of methodological limitations and validation issues in existing research.

Main Results:

  • Several genetic variants have been investigated for their association with NEC.
  • Limited sample sizes and lack of replication hinder the identification of definitive pathogenic variants.
  • Despite challenges, genetic variations offer potential insights into NEC pathogenesis.

Conclusions:

  • Understanding the genetic basis of NEC is vital for advancing our knowledge of its development.
  • Identifying infants with genetic susceptibility can enable targeted preventative strategies and specialized care.
  • Future research requires larger, well-validated cohorts to elucidate the genetic architecture of NEC.