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A Neonatal BALB/c Mouse Model of Necrotizing Enterocolitis
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Are Immune Modulating Single Nucleotide Polymorphisms Associated with Necrotizing Enterocolitis?

Ashanti L Franklin1, Mariam Said2, Clint D Cappiello1

  • 1Division of General and Thoracic Surgery, Children's National Health System, 111 Michigan Ave NW, Washington, DC 20010.

Scientific Reports
|December 17, 2015
PubMed
Summary
This summary is machine-generated.

Genetic variations in immune-modulating genes like IL-6, TGFβ-1, and TRIM21 may predispose infants to necrotizing enterocolitis (NEC). Specific single nucleotide polymorphisms (SNPs) are linked to NEC development, severity, perforation, and mortality in neonates.

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Area of Science:

  • Neonatal research
  • Immunogenetics
  • Gastroenterology

Background:

  • Necrotizing enterocolitis (NEC) is a severe gastrointestinal condition affecting newborns.
  • Genetic factors may influence infant susceptibility to NEC.
  • Immune-modulating genes are potential candidates for predisposing infants to NEC.

Purpose of the Study:

  • To investigate the association between functional single nucleotide polymorphisms (SNPs) in immune-modulating genes and the risk of NEC in infants.
  • To identify specific genetic variants that may predispose neonates to NEC development, severity, and related complications.

Main Methods:

  • DNA was extracted from buccal swabs collected with parental consent.
  • TaqMan allelic discrimination assays and BglII digestion were used to genotype specific cytokine SNPs and TRIM21.
  • Logistic regression analysis was employed to assess the statistical associations.

Main Results:

  • Caucasian neonates with the IL-6 (rs1800795) SNP had a significantly higher likelihood of NEC and Stage III NEC.
  • The TGFβ-1 (rs2241712) SNP was associated with decreased NEC-related perforation but increased mortality.
  • TRIM21 (rs660) was linked to NEC-related intestinal perforation.

Conclusions:

  • The functional SNP IL-6 (rs1800795) is associated with NEC development and severity in premature Caucasian neonates.
  • TRIM21 (rs660) and TGFβ-1 (rs2241712) are associated with NEC-related perforation across the cohort.
  • These findings suggest a potential genetic predisposition to necrotizing enterocolitis.