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To elucidate the relative importance of the HLA-DR and HLA-DQ loci in conferring genetic predisposition to rheumatoid arthritis (RA).HLA-DRB1 and HLA-DQB1 alleles were typed in a set of 685 patients with RA using sequence-specific polymerase chain reaction. Allele and phenotype frequencies were compared with those in 2 large sets of historical, ethnically matched healthy controls, using the relative predispositional effect method.Positive association was confirmed with the shared epitope positive HLA-DRB1 alleles associated with RA in Caucasians. A significant susceptibility effect was observed with HLA-DRB1*09, described in other ethnically diverse populations but not in Caucasians. A significant underrepresentation of the HLA-DRB1*0103 variant was noted among the RA cases, supporting the proposed protective role of the DERAA motif at residues 70-74 of the DRbeta molecule. No HLA-DRB1 independent association of the HLA-DQB1 alleles, implicated in predisposing to RA, was evident.These data corroborate the shared epitope hypothesis of susceptibility to RA and provide strong evidence for the DRB1 locus as the primary RA susceptibility factor in the HLA region.

Type

Journal article

Journal

The Journal of rheumatology

Publication Date

09/2002

Volume

29

Pages

1821 - 1826

Addresses

Wellcome Trust Centre for Human Genetics, University of Oxford, UK. anitam@well.ox.ac.uk

Keywords

Humans, Arthritis, Rheumatoid, Genetic Predisposition to Disease, HLA-DQ Antigens, HLA-DR Antigens, Odds Ratio, Sensitivity and Specificity, Chi-Square Distribution, Case-Control Studies, Polymerase Chain Reaction, Gene Frequency, Haplotypes, Alleles, Reference Values, Adult, Aged, Middle Aged, European Continental Ancestry Group, Female, Male, United Kingdom