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.
Franke
Andre
A
Institute for Clinical Molecular Biology, Christian-Albrechts-University, D-24105 Kiel, Germany.
Balschun
Tobias
T
Karlsen
Tom H
TH
Hedderich
Jürgen
J
May
Sandra
S
Lu
Tim
T
Schuldt
Dörthe
D
Nikolaus
Susanna
S
Rosenstiel
Philip
P
Krawczak
Michael
M
Schreiber
Stefan
S
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
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