title: Different HLA class II associations in ulcerative colitis patients with and without primary sclerosing cholangitis.
abstract: Approximately 80% of patients with primary sclerosing cholangitis (PSC) of Northern European origin have inflammatory bowel disease (IBD), the majority ulcerative colitis (UC). An inherent problem in interpreting positive findings in genetic association studies of PSC is thus to distinguish between factors associated with hepatobiliary versus intestinal pathology. We aimed to clarify to what extent human leukocyte antigen (HLA) class II associations in UC patients with and without PSC differ. High-resolution DRB1 and DQB1 typing was performed in 365 Scandinavian PSC patients, an independent cohort of 330 Norwegian UC patients and 368 healthy controls. HLA associations found in PSC were mostly distinct from those seen in UC, and no significant differences were noted between PSC patients with concurrent UC and PSC patients without IBD. This suggests different HLA associated genetic susceptibility to PSC and UC, and supports notions that UC in PSC may represent a distinct UC phenotype.
authors.affiliation: Medical Department, Rikshospitalet-Radiumhospitalet Medical Center, University of Oslo, Oslo, Norway. t.h.karlsen@klinmed.uio.no
authors.forename: T H
authors.initials: TH
authors.lastname: Karlsen
authors.forename: K M
authors.initials: KM
authors.lastname: Boberg
authors.forename: M
authors.initials: M
authors.lastname: Vatn
authors.forename: A
authors.initials: A
authors.lastname: Bergquist
authors.forename: J
authors.initials: J
authors.lastname: Hampe
authors.forename: E
authors.initials: E
authors.lastname: Schrumpf
authors.forename: E
authors.initials: E
authors.lastname: Thorsby
authors.forename: S
authors.initials: S
authors.lastname: Schreiber
authors.forename: B A
authors.initials: BA
authors.lastname: Lie
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D015209:Cholangitis, Sclerosing / Q000150:complications* / Q000235:genetics / Q000276:immunology*; D003093:Colitis, Ulcerative / Q000150:complications* / Q000235:genetics / Q000276:immunology*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006683:HLA-DQ Antigens / Q000235:genetics; D059866:HLA-DQ beta-Chains; D006684:HLA-DR Antigens / Q000235:genetics; D059811:HLA-DRB1 Chains; D006801:Humans; D008297:Male; D008875:Middle Aged; D009664:Norway; D013548:Sweden
chemical_list: D006683:HLA-DQ Antigens; D059866:HLA-DQ beta-Chains; C069051:HLA-DQB1 antigen; D006684:HLA-DR Antigens; D059811:HLA-DRB1 Chains