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Genome-wide association study for ulcerative colitis identifies risk loci at 7q22 and 22q13 (IL17REL)


We performed a genome-wide association analysis of 1,897,764 SNPs in 1,043 German ulcerative colitis (UC) cases and 1,703 controls. We discovered new associations at chromosome 7q22 (rs7809799) and at chromosome 22q13 in IL17REL (rs5771069) and confirmed these associations in six replication panels (2,539 UC cases and 5,428 controls) from different regions of Europe (overall study sample Prs7809799 = 8.81 × 10−11 and Prs5771069 = 4.21 × 10−8, respectively).

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Figure 1: Regional plots of the 7q22 and 22q13 (IL17REL) loci.


  1. Podolsky, D.K. N. Engl. J. Med. 347, 417–429 (2002).

    CAS  Article  PubMed  Google Scholar 

  2. Hampe, J. et al. Nat. Genet. 39, 207–211 (2007).

    CAS  Article  PubMed  Google Scholar 

  3. Gaffen, S.L. Nat. Rev. Immunol. 9, 556–567 (2009).

    CAS  Article  PubMed  PubMed Central  Google Scholar 

  4. Wang, Y.H. et al. J. Exp. Med. 204, 1837–1847 (2007).

    CAS  Article  PubMed  PubMed Central  Google Scholar 

  5. Fort, M.M. et al. Immunity 15, 985–995 (2001).

    CAS  Article  PubMed  Google Scholar 

  6. Kleinschek, M.A. et al. J. Exp. Med. 204, 161–170 (2007).

    CAS  Article  PubMed  PubMed Central  Google Scholar 

  7. Bouma, G. & Strober, W. Nat. Rev. Immunol. 3, 521–533 (2003).

    CAS  Article  PubMed  Google Scholar 

  8. Barrett, J.C. et al. Nat. Genet. 40, 955–962 (2008).

    CAS  Article  PubMed  PubMed Central  Google Scholar 

  9. Hommes, D.W. et al. Clin. Exp. Immunol. 106, 529–533 (1996).

    CAS  Article  PubMed  PubMed Central  Google Scholar 

  10. Leitner, J. et al. Eur. J. Immunol. 39, 1754–1764 (2009).

    CAS  Article  PubMed  PubMed Central  Google Scholar 

  11. Arnett, H.A. et al. J. Immunol. 178, 1523–1533 (2007).

    CAS  Article  PubMed  Google Scholar 

  12. Valentonyte, R. et al. Nat. Genet. 37, 357–364 (2005).

    CAS  Article  PubMed  Google Scholar 

  13. Silverberg, M.S. et al. Nat. Genet. 41, 216–220 (2009).

    CAS  Article  PubMed  PubMed Central  Google Scholar 

  14. Franke, A. et al. Nat. Genet. 40, 1319–1323 (2008).

    CAS  Article  PubMed  Google Scholar 

  15. Pathan, S. et al. Tissue Antigens 74, 322–329 (2009).

    CAS  Article  PubMed  Google Scholar 

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We thank all individuals with UC and CD studied here, their families and physicians for their cooperation. We acknowledge the cooperation of the German Crohn and Colitis Foundation (Deutsche Morbus Crohn und Colitis Vereingung e.V.), the German Ministry of Education and Research (BMBF) competence network “IBD” and the contributing gastroenterologists. We thank E. Melum and K. Holm for discussion and support; T. Wesse, T. Henke, C. Fürstenau, S. Ehlers and R. Vogler for expert technical help; T. Wienker and M. Steffens (Institut für Medizinische Biometrie, Informatik und Epidemiologie, University of Bonn) for performing the quality control of the GWAS datasets; B.A. Lie and the Norwegian Bone Marrow Donor Registry at Rikshospitalet University Hospital, Oslo, for contributing the healthy Norwegian control population; and the following individuals for their invaluable participation in the collection of the Baltic (Lithuanian and Latvian) patient panel: G. Kiudelis, L. Jonaitis, A. Zvirbliene, G. Denapiene, A. Irnius, J. Valantinas, V. Svalbonas, D. Krukas, G. Simulionis, Z. Sukys, M. Leja and A. Derovs. This study was supported by the BMBF through the National Genome Research Network (NGFN), the PopGen Biobank and the Cooperative Research in the Region of Augsburg (KORA) research platform. KORA was initiated and financed by the Helmholtz Zentrum München–National Research Center for Environmental Health, which is funded by the German Federal Ministry of Education, Science, Research and Technology and by the State of Bavaria and the Munich Center of Health Sciences (MC Health) as part of the LMUinnovativ initiative. The project received infrastructure support through the Deutsche Forschungsgemeinschaft clusters of excellence Multimodal Computing and Interaction, Future Ocean, and Inflammation and Interfaces. We acknowledge use of DNA from the 1958 British Birth Cohort collection (courtesy of R. Jones, S. Ring, W. McArdle and M. Pembrey), funded by the UK Medical Research Council (grant G0000934) and the Wellcome Trust (grant 068545/Z/02). C.G.M. and C.M.O. were supported by The Wellcome Trust and Core (UK).

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A.F. and T.B. performed SNP selection, genotyping and data analysis and prepared figures and tables. A.F. helped with data analysis. D.E. performed the imputation and generated the regional association plots. R.H. and P. Rosenstiel performed the expression analyses. E.B. helped with figures. M.W. was responsible for in-house conversion and quality assessment of GWAS data. M.K. helped with statistical analyses and interpretation of the results. S.N. and C.S. coordinated the recruitment and collected phenotype data of panels A and B. G.M. and M.A. performed the in silico protein analyses. C.G. and H.E.W. provided the KORA control samples. J.S., L.K., C.M.O., C.G.M., M.G., N.P.A., D.S., W.L.M., S.V., P. Rutgeerts, M.H.V. and the IBSEN study group provided the European replication samples and respective phenotypes. M.K., E.B., P. Rosenstiel and S.S. edited the manuscript. A.F. supervised the experiment. T.H.K., T.B. and A.F. drafted the manuscript, and all authors approved the final draft.

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Correspondence to Andre Franke.

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The authors declare no competing financial interests.

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A full list of members is available in the Supplementary Note.

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Supplementary Methods, Supplementary Note, Supplementary Tables 1–6 and Supplementary Figures 1–11 (PDF 6854 kb)

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Franke, A., Balschun, T., Sina, C. et al. Genome-wide association study for ulcerative colitis identifies risk loci at 7q22 and 22q13 (IL17REL). Nat Genet 42, 292–294 (2010).

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