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Publication Information

PubMed ID
Public Release Type
Journal
Publication Year
2007
Affiliation
Université de Montréal and the Montreal Heart Institute, Research Center, 5000 rue Belanger, Montreal, Quebec H1T 1C8, Canada. rioux@broad.mit.edu
Authors
Barmada MM, Bernard EJ, Brant SR, Cho JH, Daly MJ, Datta LW, Duerr RH, Goyette P, Green T, Griffiths AM, Huett A, Ippoliti AF, Kuballa P, Mei L, Nicolae DL, Regueiro M, Rioux JD, Rotter JI, Schumm LP, Shugart YY, Silverberg MS, Steinhart AH, Targan SR, Taylor KD, Xavier RJ
Studies
Citation
Rioux JD, Xavier RJ, Taylor KD, Silverberg MS, Goyette P, Huett A, Green T, Kuballa P, Barmada MM, Datta LW, Shugart YY, Griffiths AM, Targan SR, Ippoliti AF, Bernard EJ, Mei L, Nicolae DL, Regueiro M, Schumm LP, Steinhart AH, Rotter JI, Duerr RH, Cho JH, Daly MJ, Brant SR. Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis. Nat Genet 2007 May;39(5):596-604. Epub 2007 Apr 15.

Abstract

We present a genome-wide association study of ileal Crohn disease and two independent replication studies that identify several new regions of association to Crohn disease. Specifically, in addition to the previously established CARD15 and IL23R associations, we identified strong and significantly replicated associations (combined P < 10(-10)) with an intergenic region on 10q21.1 and a coding variant in ATG16L1, the latter of which was also recently reported by another group. We also report strong associations with independent replication to variation in the genomic regions encoding PHOX2B, NCF4 and a predicted gene on 16q24.1 (FAM92B). Finally, we demonstrate that ATG16L1 is expressed in intestinal epithelial cell lines and that functional knockdown of this gene abrogates autophagy of Salmonella typhimurium. Together, these findings suggest that autophagy and host cell responses to intracellular microbes are involved in the pathogenesis of Crohn disease.