Association to HLA-DRB1*08, HLA-DPB1*0301 and homozygosity for an HLA-linked proteasome gene in juvenile ankylosing spondylitis.
To assess the role of HLA genes other than those encoding B27 in predisposing to JAS and AAS, we analyzed the distribution of B*4001, as well as the DRB1, DPB1, and LMP2 alleles, using PCR-based techniques in 63 JAS and 44 AAS patients (all B27 positive). The NBMDR (N = 4724) provided a source of controls matched with the patients for B27 (or other markers when necessary). We found an increase of the B*4001, DRB1*08, and DPB1*0301 alleles, as well as the LMP2 b/b genotype (the latter was most pronounced among patients with acute iridocyclitis), in JAS compared to B27-positive controls. The increase of DRB1*08 and DPB1*0301 was due to an increase of DRB1*08 and DPB1*0301 in combination, whereas the association with B*4001 could be due to linkage disequilibrium with LMP2b. None of these associations were detected in AAS. We conclude that in JAS, in addition to the association to B27, there are also weaker but distinct associations to the DRB1*08, DPB1*0301 alleles and homozygosity for LMP2b.
Ploski
R
R
Institute of Transplantation Immunology, National Hospital, Oslo, Norway.
Flatø
B
B
Vinje
O
O
Maksymowych
W
W
Førre
O
O
Thorsby
E
E
D000328:Adult; D000368:Aged; D001171:Arthritis, Juvenile / Q000235:genetics / Q000276:immunology; D001483:Base Sequence; D003546:Cysteine Endopeptidases; D004198:Disease Susceptibility; D005260:Female; D015235:HLA-B Antigens / Q000235:genetics*; D006682:HLA-DP Antigens / Q000235:genetics*; D059868:HLA-DP beta-Chains; D006684:HLA-DR Antigens / Q000235:genetics*; D059811:HLA-DRB1 Chains; D006650:Histocompatibility Testing; D006720:Homozygote; D006801:Humans; D015863:Iridocyclitis / Q000235:genetics / Q000276:immunology; D015810:Linkage Disequilibrium / Q000276:immunology; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D011446:Prospective Studies; D011506:Proteins / Q000235:genetics*; D013167:Spondylitis, Ankylosing / Q000453:epidemiology / Q000235:genetics*
D015235:HLA-B Antigens; D006682:HLA-DP Antigens; D059868:HLA-DP beta-Chains; C071170:HLA-DPB1 antigen; D006684:HLA-DR Antigens; D059811:HLA-DRB1 Chains; D011506:Proteins; C071313:LMP-2 protein; D003546:Cysteine Endopeptidases