Title: Common variants in the NLRP3 region contribute to Crohn's disease susceptibility
Authors: Villani, Alexandra-Chloe ×
Lemire, Mathieu
Fortin, Genevieve
Louis, Edouard
Silverberg, Mark S
Collette, Catherine
Baba, Nobuyasu
Libioulle, Cecile
Belaiche, Jacques
Bitton, Alain
Gaudet, Daniel
Cohen, Albert
Langelier, Diane
Fortin, Paul R
Wither, Joan E
Sarfati, Marika
Rutgeerts, Paul
Rioux, John D
Vermeire, Severine
Hudson, Thomas J
Franchimont, Denis #
Issue Date: Jan-2009
Publisher: Nature Publishing Group
Series Title: Nature Genetics vol:41 issue:1 pages:71-76
Abstract: 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-1b production. Mutations in NLRP3 are known to be responsible for three rare autoinflammatory disorders(1,2). These results suggest that the NLRP3 region is also implicated in the susceptibility of more common inflammatory diseases such as Crohn's disease.
ISSN: 1061-4036
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Translational Research in GastroIntestinal Disorders
× corresponding author
# (joint) last author

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