Document Type
Journal Article
Publication Date
12-16-2015
Journal
Scientific Reports
Volume
5
DOI
10.1038/srep18369
Keywords
Enterocolitis, Necrotizing; Female; Humans; Infant, Newborn; Interleukin-6; Male; Polymorphism, Single Nucleotide; Ribonucleoproteins; Transforming Growth Factor beta1
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.
Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 License.
APA Citation
Franklin, A., Said, M., Cappiello, C., Gordish-Dressman, H., Tatari-Calderone, Z., Vukmanovic, S., Rais-Bahrami, K., Luban, N., Devaney, J., & Sandler, A. (2015). Are Immune Modulating Single Nucleotide Polymorphisms Associated with Necrotizing Enterocolitis?. Scientific Reports, 5 (). http://dx.doi.org/10.1038/srep18369
Peer Reviewed
1
Open Access
1
Included in
Digestive System Diseases Commons, Genetics and Genomics Commons, Integrative Biology Commons, Systems Biology Commons
Comments
Reproduced with permission of Macmillan Publishers Ltd. Scientific Reports