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- Title
Myosin IXB variant increases the risk of celiac disease and points toward a primary intestinal barrier defect.
- Authors
Monsuur, Alienke J.; de Bakker, Paul I. W.; Alizadeh, Behrooz Z.; Zhernakova, Alexandra; Bevova, Marianna R.; Strengman, Eric; Franke, Lude; van't Slot, Ruben; van Belzen, Martine J.; Lavrijsen, Ineke C. M.; Diosdado, Begoña; Daly, Mark J.; Mulder, Chris J. J.; Mearin, M. Luisa; Meijer, Jos W. R.; Meijer, Gerrit A.; van Oort, Erica; Wapenaar, Martin C.; Koeleman, Bobby P. C.; Wijmenga, Cisca
- Abstract
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.
- Subjects
CELIAC disease; DIGESTIVE system diseases; MYOSIN; MUSCLE proteins; IMMUNOLOGIC diseases; GLUTEN; GENETICS; GENOMICS
- Publication
Nature Genetics, 2005, Vol 37, Issue 12, p1341
- ISSN
1061-4036
- Publication type
Article
- DOI
10.1038/ng1680