title: CARD15/NOD2 is not a predisposing factor for necrotizing enterocolitis.
abstract: Multiple factors are incriminated in the etiopathogeny of necrotizing enterocolitis (NEC) in premature infants, including oral feeding, vascular abnormalities, increase in pro-inflammatory cytokines, and inappropriate response of the intestinal barrier to bacterial microflora. CARD15/NOD2 is a gene recently recognized as important in the innate response to gut flora and is involved in Crohn's disease susceptibility. We thus tested its putative role in NEC. Ten children (seven boys and three girls) suffering from NEC who were admitted to Robert Debré hospital between 1999 and 2002 were retrospectively included in the study. Genetic screening of the 11 constant exons and the exon-intron junctions of CARD15/NOD2 by direct sequencing revealed no novel mutations of that gene in NEC patients. Furthermore, the three main mutations of CARD15/NOD2 (R702W, G908R, and 1007fs) associated with susceptibility to Crohn's disease were not found in these patients. Our results suggest that CARD15/NOD2 does not play a major role in genetic susceptibility to NEC.
authors.affiliation: Fondation Jean Dausset-CEPH, Université, Paris, France. habib@cephb.fr
authors.forename: Habib
authors.initials: H
authors.lastname: Zouali
authors.forename: Zouali
authors.initials: Z
authors.lastname: Habib
authors.forename: Arnaud
authors.initials: A
authors.lastname: Bonnard
authors.forename: Bonnard
authors.initials: B
authors.lastname: Arnaud
authors.forename: Pascal
authors.initials: DL
authors.lastname: De Lagausie
authors.forename: De Lagausie
authors.initials: de L
authors.lastname: Pascal
authors.forename: Caroline
authors.initials: C
authors.lastname: Farnoux
authors.forename: Farnoux
authors.initials: F
authors.lastname: Caroline
authors.forename: Yves
authors.initials: Y
authors.lastname: Aigrain
authors.forename: Aigrain
authors.initials: A
authors.lastname: Yves
authors.forename: Jean-Pierre
authors.initials: JP
authors.lastname: Cezard
authors.forename: Cezard
authors.initials: C
authors.lastname: Jean-Pierre
authors.forename: Michel
authors.initials: M
authors.lastname: Peuchmaur
authors.forename: Peuchmaur
authors.initials: P
authors.lastname: Michel
authors.forename: Jean-Pierre
authors.initials: JP
authors.lastname: Hugot
authors.forename: Hugot
authors.initials: H
authors.lastname: Jean-Pierre
authors.forename: Dominique
authors.initials: D
authors.lastname: Berrebi
authors.forename: Berrebi
authors.initials: B
authors.lastname: Dominique
mesh_terms: D003424:Crohn Disease / Q000235:genetics / Q000503:physiopathology; D004252:DNA Mutational Analysis; D020345:Enterocolitis, Necrotizing / Q000235:genetics* / Q000503:physiopathology*; D005260:Female; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006801:Humans; D007231:Infant, Newborn; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics* / Q000502:physiology*; D008297:Male; D053473:Nod2 Signaling Adaptor Protein; D012189:Retrospective Studies; D012307:Risk Factors
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; C429018:NOD2 protein, human; D053473:Nod2 Signaling Adaptor Protein