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Myosin IXB Gene Linked to Intestinal Barrier Defect and Celiac Disease Risk

Nat Genet. 2005 Nov 13

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Celiac.com 11/29/2005 - The following is an abstract of a study by Dutch researchers which demonstrates a new level of understanding with regard to the role that specific genes play in the cause of celiac disease. These findings may eventually lead to a treatment that lies beyond the gluten-free diet:

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 x 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 x 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.

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