ババ　ノブヤス   馬場　伸育    所属   川崎医科大学  医学部 基礎医学　免疫学    職種   講師
論文種別	原著
言語種別	英語
査読の有無	査読あり
表題	Common variants in the NLRP3 region contribute to Crohn's disease susceptibility.
掲載誌名	正式名：Nature genetics 略　 称：Nat Genet ISSNコード：15461718/10614036
掲載区分	国外
巻・号・頁	41(1),pp.71-6
著者・共著者	Alexandra-Chloé Villani, Mathieu Lemire, Geneviève Fortin, Edouard Louis, Mark S Silverberg, Catherine Collette, Nobuyasu Baba, Cécile Libioulle, Jacques Belaiche, Alain Bitton, Daniel Gaudet, Albert Cohen, Diane Langelier, Paul R Fortin, Joan E Wither, Marika Sarfati, Paul Rutgeerts, John D Rioux, Severine Vermeire, Thomas J Hudson, Denis Franchimont
発行年月	2009/01
概要	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.
DOI	10.1038/ng.285
PMID	19098911