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


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.

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We thank the DNA Collections and Genotyping facilities at the Wellcome Trust Sanger Institute and King's College London for sample preparation and quality control of the ulcerative colitis cohort and conducting genotyping, in particular A. Chaney, D. Simpkin, C. Hind, T. Dibling and D. Soars; and the DNA and Genotyping Informatics teams for data handling. We acknowledge the National Association for Colitis and Crohn's disease (NACC), Procter and Gamble (unrestricted educational grant), the Evelyn Trust, the Wexham Trust and the NIHR Cambridge Biomedical Research Centre who supported the study. We also acknowledge use of DNA from the 1958 British Birth Cohort collection (D. Strachan, S. Ring, W. McArdle and M. Pembrey), funded by the Medical Research Council and Wellcome Trust, and NACC and the Wellcome Trust who supported case collections. S.A.F. is supported by a Research Council UK fellowship. M.T. is supported by a Wellcome Trust Clinical Research Training Fellowship. We thank all subjects who contributed samples and consultants and nursing staff across the UK who helped with recruitment of study subjects.

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S.A.F., M.T., C.A.A., C.G.M., M.P. and J.S. wrote the paper; S.A.F., C.A.A., C.B., J.C.B., C.M.L. and L.C. did statistical analysis; N.J.P., S.B., K.B., M.I., P.E., R.R., D.M., M.T., A.K., S.H. and R.G. performed DNA analysis; N.W. and W.O. supplied control DNA; E.R.N., D.M., M.T., C.J., F.R.C., H.D., C.W.L., C.M.O., C.E.H. and M.C. recruited and phenotyped ulcerative colitis cases; P.D., A.L., A.F., J.S., D.P.J., J.C.M., C.G.M., M.P., the WTCCC and J.S. supervised collections and/or laboratory studies.

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Correspondence to Jack Satsangi.

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Supplementary Methods, Supplementary Tables 1–5, Supplementary Figures 1–4 and Supplementary Note (PDF 2176 kb)

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Fisher, S., Tremelling, M., Anderson, C. et al. Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's disease. Nat Genet 40, 710–712 (2008).

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