Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's disease

S. A. Fisher, M. Tremelling, C. A. Anderson, R. Gwilliam, S. Bumpstead, N. J. Prescott, E. R. Nimmo, D. Massey, C. Berzuini, C. Johnson, J. C. Barrett, F. R. Cummings, H. Drummond, C. W. Lees, C. M. Onnie, C. E. Hanson, K. Blaszczyk, M. Inouye, P. Ewels, R. RavindrarajahA. Keniry, S. Hunt, M. Carter, N. Watkins, W. Ouwehand, C. M. Lewis, L. Cardon, The Wellcome Trust Case Control Consortium, A. Lobo, A. Forbes, J. Sanderson, D. P. Jewell, J. C. Mansfield, P. Deloukas, C. G. Mathew, M. Parkes, J. Satsangi

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378 Citations (Scopus)

Abstract

We report results of a nonsynonymous SNP scan for ulcerative colitis and identify a previously unknown susceptibility locus at ECM1. We also show that several risk loci are common to ulcerative colitis and Crohn's disease (IL23R, IL12B, HLA, NKX2-3 and MST1), whereas autophagy genes ATG16L1 and IRGM, along with NOD2 (also known as CARD15), are specific for Crohn's disease. These data provide the first detailed illustration of the genetic relationship between these common inflammatory bowel diseases.
Original languageEnglish
Pages (from-to)710-712
Number of pages3
JournalNature Genetics
Volume40
Issue number6
DOIs
Publication statusPublished - Jun 2008

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