TY - JOUR
T1 - Are Immune Modulating Single Nucleotide Polymorphisms Associated with Necrotizing Enterocolitis?
AU - Franklin, Ashanti L.
AU - Said, Mariam
AU - Cappiello, Clint D.
AU - Gordish-Dressman, Heather
AU - Tatari-Calderone, Zohreh
AU - Vukmanovic, Stanislav
AU - Rais-Bahrami, Khodayar
AU - Luban, Naomi L.C.
AU - Devaney, Joseph M.
AU - Sandler, Anthony D.
N1 - Funding Information:
This study was supported by the National Institutes of Health, Eunice Kennedy Shriver National Institute of Child Health and Human Development (R03HD65826). The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Center for Research Resources or the National Institutes of Health. Funding came from National Institutes of Health, Eunice Kennedy Shriver National Institute of Child Health and Human Development No R03HD65826.
PY - 2015/12/16
Y1 - 2015/12/16
N2 - 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.
AB - 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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U2 - 10.1038/srep18369
DO - 10.1038/srep18369
M3 - Article
C2 - 26670709
AN - SCOPUS:84950294740
SN - 2045-2322
VL - 5
JO - Scientific reports
JF - Scientific reports
M1 - 18369
ER -