ITGB2 (Integrin β2) Immunomodulatory Gene Variants in Premature Infants With Necrotizing Enterocolitis.
Document Type
Article
Publication Date
2-1-2021
Identifier
DOI: 10.1097/MPG.0000000000002941
Abstract
ABSTRACT: Aberrant toll-like receptor (TLR) activation is central to necrotizing enterocolitis (NEC) pathogenesis. β2 integrins regulate TLR signaling, and integrin β2 (ITGB2) deficiency causes TLR hyperresponsiveness. To test the hypothesis that ITGB2 genetic variants modulate NEC susceptibility, we sequenced the exonic ITGB2 locus to compare the prevalence of deleterious variants among 221 preterm infants with and without NEC. ITGB2 variants were not associated with NEC in our entire cohort (NEC [9/56] versus controls [16/165], P = 0.19) or in extremely low birthweight infants (ELBW, controls [7.9%] versus NEC [18.2%]; P = 0.11) but were increased compared to the populace (4.5%, gnomad.broadinstitute.org). Combined annotation-dependent depletion -predicted deleterious ITGB2 variants increased proportionately with increasing NEC severity in ELBW infants (controls [6.7%] versus medical NEC [16.7%] versus surgical NEC [19%] (P = 0.03). Although ITGB2 variants were not associated with NEC in our preterm cohort, subgroup analysis showed a trend towards enrichment with NEC severity in ELBW infants.
Journal Title
Journal of pediatric gastroenterology and nutrition
Volume
72
Issue
2
First Page
37
Last Page
37
Recommended Citation
George L, Menden H, Xia S, et al. ITGB2 (Integrin β2) Immunomodulatory Gene Variants in Premature Infants With Necrotizing Enterocolitis. J Pediatr Gastroenterol Nutr. 2021;72(2):e37-e41. doi:10.1097/MPG.0000000000002941
Comments
Grant support