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Start Over Author "Heather Menden" Journal journal of pediatric gastroenterology & nutrition
2 results on '"Heather Menden"'

1. ITGB2 (Integrin β2) Immunomodulatory Gene Variants in Premature Infants With Necrotizing Enterocolitis

Author

Ravi Mangal Patel, Neil A. Miller, Heather Menden, Venkatesh Sampath, Kimberly J. Reid, Jeffrey J Johnston, Atif A. Ahmed, Wei Yu, Emily G. Farrow, Lovya George Md, Anne Holmes, Neil P. Mulrooney, Sheng Xia, and Cassandra D. Josephson

Subjects
Integrin, Locus (genetics), Subgroup analysis, Infant, Premature, Diseases, Pathogenesis, 03 medical and health sciences, 0302 clinical medicine, Enterocolitis, Necrotizing, 030225 pediatrics, medicine, Humans, Receptor, Gene, biology, business.industry, Infant, Newborn, Gastroenterology, Infant, medicine.disease, digestive system diseases, Infant, Extremely Low Birth Weight, CD18 Antigens, Pediatrics, Perinatology and Child Health, Cohort, Necrotizing enterocolitis, Immunology, biology.protein, 030211 gastroenterology & hepatology, business, Infant, Premature
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.

Published
2021
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2. Necrotizing Enterocolitis Is Not Associated With Sequence Variants in Antioxidant Response Genes in Premature Infants

Author

Venkatesh Sampath, Heather Menden, David Dimmock, Jeffery S. Garland, Neil P. Mulrooney, Daniel Helbling, John M. Dagle, and Jeffrey C. Murray

Subjects
Male, 0301 basic medicine, medicine.medical_specialty, Genotype, NF-E2-Related Factor 2, SOD2, Gestational Age, Antioxidant response element, Bioinformatics, Polymorphism, Single Nucleotide, Gastroenterology, Antioxidants, Article, Cohort Studies, 03 medical and health sciences, GSTP1, 0302 clinical medicine, Enterocolitis, Necrotizing, 030225 pediatrics, Internal medicine, Humans, Medicine, Genetic Predisposition to Disease, Prospective Studies, Gene, business.industry, Infant, Newborn, Genetic Variation, Infant, Gestational age, medicine.disease, Antioxidant Response Elements, digestive system diseases, NFE2L2, 030104 developmental biology, GCLC, Pediatrics, Perinatology and Child Health, Necrotizing enterocolitis, Female, business, Infant, Premature
Abstract

Reactive oxygen species mediate intestinal injury in necrotizing enterocolitis (NEC), and yet the contribution of antioxidant response (ARE) gene polymorphisms to NEC risk remains unknown. Premature infants recruited in a multicenter study were genotyped for 6 ARE variants. Among 637 infants, 52 had NEC, and 22 developed surgical NEC. Gestational age

Published
2016
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