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Replication of signals from recent studies of Crohn's disease identifies previously unknown disease loci for ulcerative colitis


Following up on recent genome-wide association studies (GWAS) of Crohn's disease, we investigated 50 previously reported susceptibility loci in a German sample of individuals with Crohn's disease (n = 1,850) or ulcerative colitis (n = 1,103) and healthy controls (n = 1,817). Among these loci, we identified variants in 3p21.31, NKX2-3 and CCNY as susceptibility factors for both diseases, whereas variants in PTPN2, HERC2 and STAT3 were associated only with ulcerative colitis in our sample collection.

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Figure 1: Associated region at NKX2-3.


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The authors wish to thank all individuals with IBD, families and physicians for their cooperation. The cooperation of the German Crohn and Colitis Foundation (Deutsche Morbus Crohn und Colitis Vereinigung e.V.) and of the contributing gastroenterologists is gratefully acknowledged, especially of S. Nikolaus, T. Kühbacher, J. Hampe and C. Sina. Finally, we wish to thank T. Wesse, A. Dietsch, L. Bossen, R. Vogler, C.v.d. Lancken and M. Friskovec for expert technical help. This study was supported by the German Ministry of Education and Research (BMBF) through the National Genome Research Network (NGFN) and the PopGen biobank and received infrastructure support through the DFG excellence cluster “Inflammation at Interfaces.”

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A.F. and T.B. performed the SNP selection, genotyping and data analysis and prepared the figures and tables; T.H.K. helped with data analysis and edited the manuscript. D.S., S.N. and P.R. coordinated the recruitment, collected the phenotype data and participated in experimental design. J.H., S.M. and T.L. helped with data analysis and quality control; M.K. supervised and performed the statistical analysis and edited the paper. A.F. and S.S. designed and supervised the experiment and wrote the manuscript.

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Correspondence to Stefan Schreiber.

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Competing interests

S.S. was a member of the scientific advisory board of Applied Biosystems until mid 2007.

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Supplementary Methods, Supplementary Tables 1–4 and Supplementary Figures 1 and 2 (PDF 3151 kb)

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Franke, A., Balschun, T., Karlsen, T. et al. Replication of signals from recent studies of Crohn's disease identifies previously unknown disease loci for ulcerative colitis. Nat Genet 40, 713–715 (2008).

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