title: DNA polymorphism of HLA class II genes in primary biliary cirrhosis.
abstract: We investigated the DNA restriction fragment length polymorphism of the major histocompatibility complex class II genes: HLA-DRB, -DQA, -DQB, DPA, -DPB, the serologically defined HLA-A, B, C, DR antigens, and the primed lymphocyte typing defined HLA-DP antigens in 23 Danish patients with primary biliary cirrhosis (PBC) and in healthy Danes. The following genetic markers were found with increased frequencies in PBC: HLA-B8 (relative risk, RR = 2.4, P less than 0.05, 'corrected' P greater than 0.05), HLA-DR3 (RR = 3.4, P less than 0.01, 'corrected' P less than 0.05), the DRB3*01/02/03 (DRw52) associated DRB Bgl II 9.1 kilobase (kb) fragment (RR = 2.9; P less than 0.05, 'corrected' P greater than 0.05), the DQA1*0501 associated DQA Taq I 4.8 kb fragment (RR = 3.1; P less than 0.05, 'corrected' P greater than 0.05), the DQB1*0201 (DQw2) associated DQB Hin dIII 11.5 kb fragment (RR = 3.1; P less than 0.05, 'corrected' P greater than 0.05). No DNA fragments specific for DRB1*0301 (DR3) could be identified. The frequencies in PBC of other genetic markers including DRw8, DRB1*08, HLA-DP antigens, DPA, and DPB genes did not differ significantly from those in controls. The associations between PBC and B8, DR3, DQA1*0501, and DQB1*0201, which are frequently found together on the same haplotype, are at variance with recent reports on associations between PBC and Drw8. The discrepancy suggests that PBC is genetically heterogenous.
authors.affiliation: Tissue Typing Laboratory, State University Hospital (Rigshospitalet), Copenhagen, Denmark.
authors.forename: N
authors.initials: N
authors.lastname: Morling
authors.forename: K
authors.initials: K
authors.lastname: Dalhoff
authors.forename: L
authors.initials: L
authors.lastname: Fugger
authors.forename: J
authors.initials: J
authors.lastname: Georgsen
authors.forename: B
authors.initials: B
authors.lastname: Jakobsen
authors.forename: L
authors.initials: L
authors.lastname: Ranek
authors.forename: N
authors.initials: N
authors.lastname: Odum
authors.forename: A
authors.initials: A
authors.lastname: Svejgaard
mesh_terms: D005802:Genes, MHC Class II; D015795:HLA-B8 Antigen / Q000235:genetics; D006682:HLA-DP Antigens / Q000235:genetics; D006683:HLA-DQ Antigens / Q000235:genetics; D006684:HLA-DR Antigens / Q000235:genetics; D006801:Humans; D008105:Liver Cirrhosis, Biliary / Q000235:genetics* / Q000276:immunology; D011110:Polymorphism, Genetic; D014409:Tumor Necrosis Factor-alpha / Q000235:genetics
chemical_list: D015795:HLA-B8 Antigen; D006682:HLA-DP Antigens; D006683:HLA-DQ Antigens; D006684:HLA-DR Antigens; D014409:Tumor Necrosis Factor-alpha