The R30Q DLG5 variant is not associated with celiac disease or inflammatory bowel disease in the Spanish population

• Published in: Tissue antigens 2011-01, Vol.77 (1), p.62-64
• Main Authors: Dema, B., Fernández-Arquero, M., Maluenda, C., Polanco, I., Figueredo, M. A., De La Concha, E. G., Urcelay, E., Núñez, C.
• Format: Article
• Language: English
• Subjects: Celiac Disease - genetics; celiac disease susceptibility; DLG5; Female; Genetic Predisposition to Disease; Genetic Variation; Humans; Indexing in process; inflammatory bowel disease; Inflammatory Bowel Diseases - genetics; intestinal permeability; Male; Membrane Proteins - genetics; Polymorphism, Single Nucleotide; Spain; Tumor Suppressor Proteins - genetics
• ISSN: 0001-2815; 1399-0039
• DOI: 10.1111/j.1399-0039.2010.01560.x

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.