Are Immune Modulating Single Nucleotide Polymorphisms Associated with Necrotizing Enterocolitis?

Ashanti L. Franklin, Mariam Said, Clint D. Cappiello, Heather Gordish-Dressman, Zohreh Tatari Calderone, Stanislav Vukmanovic, Khodayar Rais-Bahrami, Naomi L C Luban, Joseph M. Devaney, Anthony D. Sandler

Research output: Contribution to journalArticle

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Abstract

Necrotizing enterocolitis (NEC) is a devastating gastrointestinal emergency. The purpose of this study is to determine if functional single nucleotide polymorphisms (SNPs) in immune-modulating genes pre-dispose infants to NEC. After Institutional Review Board approval and parental consent, buccal swabs were collected for DNA extraction. TaqMan allelic discrimination assays and BglII endonuclease digestion were used to genotype specific inflammatory cytokines and TRIM21. Statistical analysis was completed using logistic regression. 184 neonates were analyzed in the study. Caucasian neonates with IL-6 (rs1800795) were over 6 times more likely to have NEC (p = 0.013; OR = 6.61, 95% CI 1.48-29.39), and over 7 times more likely to have Stage III disease (p = 0.011; OR = 7.13, (95% CI 1.56-32.52). Neonates with TGFβ-1 (rs2241712) had a decreased incidence of NEC-related perforation (p = 0.044; OR = 0.28, 95% CI: 0.08-0.97) and an increased incidence of mortality (p = 0.049; OR = 2.99, 95% CI: 1.01-8.86). TRIM21 (rs660) was associated with NEC-related intestinal perforation (p = 0.038; OR = 4.65, 95% CI 1.09-19.78). In premature Caucasian neonates, the functional SNP IL-6 (rs1800795) is associated with both the development and increased severity of NEC. TRIM21 (rs660) and TGFβ-1 (rs2241712) were associated with NEC-related perforation in all neonates in the cohort. These findings suggest a possible genetic role in the development of NEC.

Original languageEnglish
Article number18369
JournalScientific Reports
Volume5
DOIs
Publication statusPublished - 16 Dec 2015
Externally publishedYes

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Necrotizing Enterocolitis
Single Nucleotide Polymorphism
Newborn Infant
Interleukin-6
Parental Consent
Intestinal Perforation
Cheek
Research Ethics Committees
Incidence
Digestion
Emergencies
Logistic Models
Genotype
Cytokines
Mortality
DNA

ASJC Scopus subject areas

  • General

Cite this

Franklin, A. L., Said, M., Cappiello, C. D., Gordish-Dressman, H., Tatari Calderone, Z., Vukmanovic, S., ... Sandler, A. D. (2015). Are Immune Modulating Single Nucleotide Polymorphisms Associated with Necrotizing Enterocolitis? Scientific Reports, 5, [18369]. https://doi.org/10.1038/srep18369

Are Immune Modulating Single Nucleotide Polymorphisms Associated with Necrotizing Enterocolitis? / Franklin, Ashanti L.; Said, Mariam; Cappiello, Clint D.; Gordish-Dressman, Heather; Tatari Calderone, Zohreh; Vukmanovic, Stanislav; Rais-Bahrami, Khodayar; Luban, Naomi L C; Devaney, Joseph M.; Sandler, Anthony D.

In: Scientific Reports, Vol. 5, 18369, 16.12.2015.

Research output: Contribution to journalArticle

Franklin, AL, Said, M, Cappiello, CD, Gordish-Dressman, H, Tatari Calderone, Z, Vukmanovic, S, Rais-Bahrami, K, Luban, NLC, Devaney, JM & Sandler, AD 2015, 'Are Immune Modulating Single Nucleotide Polymorphisms Associated with Necrotizing Enterocolitis?', Scientific Reports, vol. 5, 18369. https://doi.org/10.1038/srep18369
Franklin, Ashanti L. ; Said, Mariam ; Cappiello, Clint D. ; Gordish-Dressman, Heather ; Tatari Calderone, Zohreh ; Vukmanovic, Stanislav ; Rais-Bahrami, Khodayar ; Luban, Naomi L C ; Devaney, Joseph M. ; Sandler, Anthony D. / Are Immune Modulating Single Nucleotide Polymorphisms Associated with Necrotizing Enterocolitis?. In: Scientific Reports. 2015 ; Vol. 5.
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abstract = "Necrotizing enterocolitis (NEC) is a devastating gastrointestinal emergency. The purpose of this study is to determine if functional single nucleotide polymorphisms (SNPs) in immune-modulating genes pre-dispose infants to NEC. After Institutional Review Board approval and parental consent, buccal swabs were collected for DNA extraction. TaqMan allelic discrimination assays and BglII endonuclease digestion were used to genotype specific inflammatory cytokines and TRIM21. Statistical analysis was completed using logistic regression. 184 neonates were analyzed in the study. Caucasian neonates with IL-6 (rs1800795) were over 6 times more likely to have NEC (p = 0.013; OR = 6.61, 95{\%} CI 1.48-29.39), and over 7 times more likely to have Stage III disease (p = 0.011; OR = 7.13, (95{\%} CI 1.56-32.52). Neonates with TGFβ-1 (rs2241712) had a decreased incidence of NEC-related perforation (p = 0.044; OR = 0.28, 95{\%} CI: 0.08-0.97) and an increased incidence of mortality (p = 0.049; OR = 2.99, 95{\%} CI: 1.01-8.86). TRIM21 (rs660) was associated with NEC-related intestinal perforation (p = 0.038; OR = 4.65, 95{\%} CI 1.09-19.78). In premature Caucasian neonates, the functional SNP IL-6 (rs1800795) is associated with both the development and increased severity of NEC. TRIM21 (rs660) and TGFβ-1 (rs2241712) were associated with NEC-related perforation in all neonates in the cohort. These findings suggest a possible genetic role in the development of NEC.",
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