The Contribution of the DLG5 113A Variant in Early-Onset Inflammatory Bowel Disease

Objective To assess the contribution of the 113 G→A missense mutation within the discs, large homolog 5 (DLG5) gene in childhood-onset inflammatory bowel disease (IBD) in Scotland. Study design Two-hundred and ninety-six children with IBD were studied. Parental DNA was also collected for transmissio...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:The Journal of pediatrics 2007-03, Vol.150 (3), p.268-273
Hauptverfasser: Russell, R.K., MRCPCH, Drummond, H.E., BSc, Nimmo, E.R., BSc, MSc, PhD, Anderson, N., BSc, PhD, Wilson, D.C., MD, FRCPCH, Gillett, P.M., MBChB, FRCPCH, McGrogan, P., MBChB, MRCP, Hassan, K., MBBS, FRCPCH, Weaver, L.T., MD, FRCPCH, Bisset, W.M., MD, FRCPCH, Mahdi, G., FRCPCH, Satsangi, J., DPhil, FRCP
Format: Artikel
Sprache:eng
Schlagworte:
Online-Zugang:Volltext
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
Beschreibung
Zusammenfassung:Objective To assess the contribution of the 113 G→A missense mutation within the discs, large homolog 5 (DLG5) gene in childhood-onset inflammatory bowel disease (IBD) in Scotland. Study design Two-hundred and ninety-six children with IBD were studied. Parental DNA was also collected for transmission disequilibrium testing (TDT) analysis. Genotyping was performed by TaqMan®. Genotype-phenotype analysis was also undertaken. Socioeconomic status was assigned using a deprivation category (DepCat) score 1 through 7 (1 = most affluent). Results TDT analysis demonstrated a significant association with IBD ( P = .045). On unifactorial analysis, 113A carriage was associated with: (1) higher social class (DepCat 1 compared with 2-7, and 1-2 compared with 3-7) (66.7% vs 22.6%, P = .0005, OR 6.84 [1.99-23.55] and 37.2% vs 22.2%, P = .03, OR 2.08 [1.04-4.17], respectively); (2) higher height centile (>75th centile vs
ISSN:0022-3476
1097-6833
DOI:10.1016/j.jpeds.2006.12.010