DNA polymorphism of HLA class II genes in primary biliary cirrhosis
- Cite this article as:
- Morling, N., Dalhoff, K., Fugger, L. et al. Immunogenetics (1992) 35: 112. doi:10.1007/BF00189520
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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<0.05, ‘corrected’ P>0.05), HLA-DR3 (RR=3.4, P<0.01, ‘corrected’ P<0.05), the DRB3*01/02/03 (DRw52) associated DRB Bgl II 9.1 kilobase (kb) fragment (RR= 2.9; P<0.05, ‘corrected’ P>0.05), the DQA1*0501 associated DQA Taq I4.8 kb fragment (RR=3.1; P<0.05, ‘corrected’ P>0.05), the DQB1*0201 (DQw2) associated DQB Hin dIII 11.5 kb fragment (RR=3.1; P<0.05, ‘corrected’ P>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 DQB*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.