1. HLA haplotypes and susceptibility to rheumatoid arthritis. More than class II genes.
- Author
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Pascual M, Matarán L, Jones G, Shing D, van der Slik AR, Giphart MJ, Schreuder GM, de Vries RR, Breedveld FC, Roovers E, Zanelli E, and Martin J
- Subjects
- Arthritis, Rheumatoid epidemiology, Cell Line, Transformed, Genes, MHC Class II genetics, HLA Antigens classification, Haplotypes, Humans, Microsatellite Repeats genetics, Molecular Epidemiology, Phenotype, Polymerase Chain Reaction, Polymorphism, Genetic, Sequence Analysis, DNA, Spain epidemiology, Telomere genetics, Telomere immunology, Arthritis, Rheumatoid genetics, Arthritis, Rheumatoid immunology, Genetic Predisposition to Disease, HLA Antigens genetics
- Abstract
Our aim was to examine, using microsatellite (ms) markers, the contribution of the telomeric part of the HLA region to rheumatoid arthritis (RA) predisposition in the Spanish population. We have looked at the distribution of DQB1, DRBI and five ms loci (D6S1014, D6S273, D6STNFa, MIB and C1-2-5) within the HLA region in 147 Spanish RA patients and 202 control subjects. A total of 19 conserved ms configurations were observed, twelve of them in linkage disequilibrium with particular DQB1-DRB1 haplotypes. Interestingly, haplotype c1 (DQB1*0201-DRB1*0301-D6S1014*143-D6S273*139-D6STNFa*99-MIB*350-C1-2-5*196) was significantly associated with RA predisposition. As part of this haplotype, the MIB*350 allele was found to be a risk factor independently of the RA-predisposing haplotypes. The present results along with data from others prove the existence of a second predisposing locus located inside the MHC region, and suggest that might be located within the TNFa-HLA-B region.
- Published
- 2002
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