title: The R30Q DLG5 variant is not associated with celiac disease or inflammatory bowel disease in the Spanish population.
abstract: Alterations in intestinal epithelial permeability could underlie inflammatory bowel disease (IBD) and celiac disease (CeD) etiology, as supported by previous association studies. One related gene, DLG5 [discs, large homologue 5 (Drosophila)], has been associated with IBD in several populations and with CeD in the Dutch population. We tried to confirm the involvement of DLG5 in CeD performing a case-control study (725 CeD patients and 803 controls) by analysing the R30Q variant (rs1248696). Genetic frequencies did not significantly differ between groups (P > 0.80) and the meta-analysis with the Dutch data did not show any association. Additionally, we evaluated the effect of R30Q in IBD risk (858 patients), as discordant results were previously obtained. No association was detected. Our study does not support the effect of the R30Q DLG5 variant in CeD or IBD predisposition in the Spanish population.
authors.affiliation: Clinical Immunology Department, Hospital Clínico San Carlos, Madrid, Spain.
authors.forename: B
authors.initials: B
authors.lastname: Dema
authors.forename: M
authors.initials: M
authors.lastname: Fernández-Arquero
authors.forename: C
authors.initials: C
authors.lastname: Maluenda
authors.forename: I
authors.initials: I
authors.lastname: Polanco
authors.forename: M A
authors.initials: MA
authors.lastname: Figueredo
authors.forename: E G
authors.initials: EG
authors.lastname: De La Concha
authors.forename: E
authors.initials: E
authors.lastname: Urcelay
authors.forename: C
authors.initials: C
authors.lastname: Núñez
mesh_terms: D002446:Celiac Disease / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D006801:Humans; D015212:Inflammatory Bowel Diseases / Q000235:genetics*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D013030:Spain; D025521:Tumor Suppressor Proteins / Q000235:genetics*
chemical_list: C114461:DLG5 protein, human; D008565:Membrane Proteins; D025521:Tumor Suppressor Proteins