Genetic Variation in the Familial Mediterranean Fever Gene

The familial Mediterranean fever (FMF) gene (MEFV) encodes pyrin, a major regulator of the inflammasome platform controlling caspase-1 activation and IL-1[beta] processing. Pyrin has been shown to interact with the gene product of NLRP3, NALP3/cryopyrin, also an important active member of the inflam...

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Bibliographic Details
Published in:PloS one 2009-09, Vol.4 (9), p.e7154
Main Authors: Villani, Alexandra-Chloé, Lemire, Mathieu, Louis, Edouard, Silverberg, Mark S, Collette, Catherine, Fortin, Geneviève, Nimmo, Elaine R, Renaud, Yannick, Brunet, Sébastien, Libioulle, Cécile, Belaiche, Jacques, Bitton, Alain, Gaudet, Daniel, Cohen, Albert, Langelier, Diane, Rioux, John D, Arnott, Ian D. R, Wild, Gary E, Rutgeerts, Paul, Satsangi, Jack, Vermeire, Séverine, Hudson, Thomas J, Franchimont, Denis
Format: Article
Language:English
Subjects:
Colitis
Disease susceptibility
Gene expression
Genes
Genetic aspects
Genetic research
Genetic testing
Periodic disease
Risk factors
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Summary:The familial Mediterranean fever (FMF) gene (MEFV) encodes pyrin, a major regulator of the inflammasome platform controlling caspase-1 activation and IL-1[beta] processing. Pyrin has been shown to interact with the gene product of NLRP3, NALP3/cryopyrin, also an important active member of the inflammasome. The NLRP3 region was recently reported to be associated with Crohn's disease (CD) susceptibility. We therefore sought to evaluate MEFV as an inflammatory bowel disease (IBD) susceptibility gene. MEFV colonic mucosal gene expression was significantly increased in experimental colitis mice models (TNBS p
ISSN:1932-6203
1932-6203
DOI:10.1371/journal.pone.0007154