Details

Autor(en) / Beteiligte

• Wijmenga, Cisca
• Monsuur, Alienke J
• Bakker, Paul I W de
• Alizadeh, Behrooz Z
• Zhernakova, Alexandra
• Bevova, Marianna R
• Strengman, Eric
• Franke, Lude
• Slot, Ruben van't
• Belzen, Martine J van
• Lavrijsen, Ineke C M
• Diosdado, Begoña
• Daly, Mark J
• Mulder, Chris J J
• Mearin, M Luisa
• Meijer, Jos W R
• Meijer, Gerrit A
• Oort, Erica van
• Wapenaar, Martin C
• Koeleman, Bobby P C

Titel

Myosin IXB variant increases the risk of celiac disease and points toward a primary intestinal barrier defect

Ist Teil von

• Nature genetics, 2005-12, Vol.37 (12), p.1341-1344

Ort / Verlag

London: Nature Publishing Group

Erscheinungsjahr

2005

Link zum Volltext

Quelle

Alma/SFX Local Collection

Beschreibungen/Notizen

• Celiac disease is probably the best-understood immune-related disorder. The disease presents in the small intestine and results from the interplay between multiple genes and gluten, the triggering environmental factor. Although HLA class II genes explain 40% of the heritable risk, non-HLA genes accounting for most of the familial clustering have not yet been identified. Here we report significant and replicable association (P = 2.1 × 10−6) to a common variant located in intron 28 of the gene myosin IXB (MYO9B), which encodes an unconventional myosin molecule that has a role in actin remodeling of epithelial enterocytes. Individuals homozygous with respect to the at-risk allele have a 2.3-times higher risk of celiac disease (P = 1.55 × 10−5). This result is suggestive of a primary impairment of the intestinal barrier in the etiology of celiac disease, which may explain why immunogenic gluten peptides are able to pass through the epithelial barrier.