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DNA polymorphism of HLA class II genes in primary biliary cirrhosis

✍ Scribed by Niels Morling; Kim Dalhoff; Lars Fugger; Jørgen Georgsen; Bodil Jakobsen; Leo Ranek; Niels Ødum; Arne Svejgaard

Publisher
Springer-Verlag
Year
1992
Tongue
English
Weight
399 KB
Volume
35
Category
Article
ISSN
0093-7711

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✦ Synopsis

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 DQAI*0501 associated DQA Taq 14.8 kb fragment (RR = 3.1; P < 0.05, 'corrected' P>0.05), the DQBI*0201 (DQw2) associated DQB Hin dlII 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, DQAI*0501, and DQBl*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.

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