First evidence for strong epistasis between two Crohn's disease susceptibility loci: PTGER4-expression-modulating polymorphisms in the 5p13.1 region enhance ATG16L1-associated sus…
J Seiderer, J Glas, G Pasciuto, J Diegelmann, C Tillack, S Pfennig, D Roeske, M Wetzke, M Jürgens, HP Török, T Griga, U Schiemann, W Klein, JT Epplen, T Mussack, P Lohse, B Göke, T Ochsenkühn, M Folwaczny, B Müller-Myhsok, S Brand · Zeitschrift für Gastroenterologie · 2008 · Heft 09
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Zusammenfassung
Background and Aims: Recently, genome-wide association studies identified a number of novel susceptibility loci for Crohn's disease (CD) including a 250 kb region on chromosome 5p13.1, which modulates PTGER4 expression (PLoS Genet 2007;3:e58). We aimed to replicate this association in a large German cohort of patients with inflammatory bowel disease (IBD) and to elucidate potential genotypic and phenotypic interactions with other IBD genes. Methods: Genomic DNA from 2803 Caucasian individuals including 844 patients with CD, 471 patients with ulcerative colitis (UC), and 1488 healthy unrelated controls was analyz…