title: Replication of signals from recent studies of Crohn's disease identifies previously unknown disease loci for ulcerative colitis.
abstract: 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.
authors.affiliation: Institute for Clinical Molecular Biology, Christian-Albrechts-University, D-24105 Kiel, Germany.
authors.forename: Andre
authors.initials: A
authors.lastname: Franke
authors.forename: Tobias
authors.initials: T
authors.lastname: Balschun
authors.forename: Tom H
authors.initials: TH
authors.lastname: Karlsen
authors.forename: Jürgen
authors.initials: J
authors.lastname: Hedderich
authors.forename: Sandra
authors.initials: S
authors.lastname: May
authors.forename: Tim
authors.initials: T
authors.lastname: Lu
authors.forename: Dörthe
authors.initials: D
authors.lastname: Schuldt
authors.forename: Susanna
authors.initials: S
authors.lastname: Nikolaus
authors.forename: Philip
authors.initials: P
authors.lastname: Rosenstiel
authors.forename: Michael
authors.initials: M
authors.lastname: Krawczak
authors.forename: Stefan
authors.initials: S
authors.lastname: Schreiber
mesh_terms: D000328:Adult; D015415:Biomarkers / Q000378:metabolism*; D016022:Case-Control Studies; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics*; D015331:Cohort Studies; D003093:Colitis, Ulcerative / Q000453:epidemiology / Q000235:genetics*; D003424:Crohn Disease / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D020662:Guanine Nucleotide Exchange Factors / Q000235:genetics; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D008297:Male; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D054578:Protein Tyrosine Phosphatase, Non-Receptor Type 2 / Q000235:genetics; D012307:Risk Factors; D050796:STAT3 Transcription Factor / Q000235:genetics; D044767:Ubiquitin-Protein Ligases
chemical_list: D015415:Biomarkers; D020662:Guanine Nucleotide Exchange Factors; D018398:Homeodomain Proteins; D050796:STAT3 Transcription Factor; C494086:STAT3 protein, human; C118566:HERC2 protein, human; D044767:Ubiquitin-Protein Ligases; C516649:PTPN2 protein, human; D054578:Protein Tyrosine Phosphatase, Non-Receptor Type 2