Article (Scientific journals)
Common variants in the NLRP3 region contribute to Crohn's disease susceptibility.
Villani, Alexandra-Chloé; Lemire, Mathieu; Fortin, Geneviève et al.
2009In Nature Genetics, 41 (1), p. 71-6
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Keywords :
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
Abstract :
[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.
Disciplines :
Gastroenterology & hepatology
Author, co-author :
Villani, Alexandra-Chloé
Lemire, Mathieu
Fortin, Geneviève
Louis, Edouard  ;  Université de Liège - ULiège > Département des sciences cliniques > Hépato-gastroentérologie - Relations académiques et scientifiques (Médecine)
Silverberg, Mark S.
Collette, Catherine
Baba, Nobuyasu
Libioulle, Cécile  ;  Centre Hospitalier Universitaire de Liège - CHU > Génétique
Belaiche, Jacques ;  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
More authors (11 more) Less
Language :
English
Title :
Common variants in the NLRP3 region contribute to Crohn's disease susceptibility.
Publication date :
2009
Journal title :
Nature Genetics
ISSN :
1061-4036
eISSN :
1546-1718
Publisher :
Nature Publishing Group, New York, United States - New York
Volume :
41
Issue :
1
Pages :
71-6
Peer reviewed :
Peer Reviewed verified by ORBi
Available on ORBi :
since 28 January 2009

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