Reference : Common variants in the NLRP3 region contribute to Crohn's disease susceptibility.
Scientific journals : Article
Human health sciences : Gastroenterology & hepatology
http://hdl.handle.net/2268/4959
Common variants in the NLRP3 region contribute to Crohn's disease susceptibility.
English
Villani, Alexandra-Chloé [> > > >]
Lemire, Mathieu [> > > >]
Fortin, Geneviève [> > > >]
Louis, Edouard mailto [Université de Liège - ULg > Département des sciences cliniques > Hépato-gastroentérologie - Relations académiques et scientifiques (Médecine) >]
Silverberg, Mark S. [> > > >]
Collette, Catherine [> > > >]
Baba, Nobuyasu [> > > >]
Libioulle, Cécile mailto [Centre Hospitalier Universitaire de Liège - CHU > > Génétique >]
Belaiche, Jacques mailto [Centre Hospitalier Universitaire de Liège - CHU > > Gastro-Entérologie-Hépatologie >]
Bitton, Alain [> > > >]
Gaudet, Daniel [> > > >]
Cohen, Albert [> > > >]
Langelier, Diane [> > > >]
Fortin, Paul R. [> > > >]
Wither, Joan E. [> > > >]
Sarfati, Marika [> > > >]
Rutgeerts, Paul [> > > >]
Rioux, John D. [> > > >]
Vermeire, Séverine [> > > >]
Hudson, Thomas J. [> > > >]
Franchimont, Denis [> > > >]
2009
Nature Genetics
Nature Publishing Group
41
1
71-6
Yes (verified by ORBi)
International
1061-4036
1546-1718
New York
NY
[en] Base Pairing ; Carrier Proteins/genetics/metabolism ; Case-Control Studies ; Crohn Disease/genetics ; Gene Expression Regulation ; Genetic Predisposition to Disease ; Humans ; Polymorphism, Single Nucleotide/genetics ; Reproducibility of Results
[en] We used a candidate gene approach to identify a set of SNPs, located in a predicted regulatory region on chromosome 1q44 downstream of NLRP3 (previously known as CIAS1 and NALP3) that are associated with Crohn's disease. The associations were consistently replicated in four sample sets from individuals of European descent. In the combined analysis of all samples (710 father-mother-child trios, 239 cases and 107 controls), these SNPs were strongly associated with risk of Crohn's disease (P(combined) = 3.49 x 10(-9), odds ratio = 1.78, confidence interval = 1.47-2.16 for rs10733113), reaching a level consistent with the stringent significance thresholds imposed by whole-genome association studies. In addition, we observed significant associations between SNPs in the associated regions and NLRP3 expression and IL-1beta production. Mutations in NLRP3 are known to be responsible for three rare autoinflammatory disorders. These results suggest that the NLRP3 region is also implicated in the susceptibility of more common inflammatory diseases such as Crohn's disease.
http://hdl.handle.net/2268/4959
10.1038/ng.285

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