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Modeling the HLA component in rheumatoid arthritis: Sensitivity to DRB1 allele frequencies
Author(s) -
Tézenas du Montcel Sophie,
Reviron Denis,
Genin Emmanuelle,
Roudier Jean,
Mercier Pierre,
ClergetDarpoux Françoise
Publication year - 2000
Publication title -
genetic epidemiology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.301
H-Index - 98
eISSN - 1098-2272
pISSN - 0741-0395
DOI - 10.1002/1098-2272(200012)19:4<422::aid-gepi12>3.0.co;2-a
Subject(s) - allele , rheumatoid arthritis , hypervariable region , amino acid , epitope , human leukocyte antigen , genetics , allele frequency , arthritis , immunology , medicine , biology , antigen , gene
Rheumatoid arthritis is an inflammatory disease for which positive associations have been described with some HLA‐DRB1 alleles. The associated alleles share a similar amino acid sequence in the third hypervariable region, the shared epitope, but differ at position 71 and 86. It has been suggested that HLA susceptibility to rheumatoid arthritis could be due not only to the shared epitope but could also be influenced by specific amino acids at positions 71 and 86. In this study, we investigated the role of these amino acids in rheumatoid arthritis on 203 unrelated patients. An involvement of amino acid 71 was detected but no conclusion was possible regarding amino acid 86. A study of the sensitivity of the conclusions to marker allele frequencies was performed. We showed that the results obtained for amino acid 71 are not very sensitive to allele frequencies but those obtained at position 86 are highly sensitive. This emphasizes the importance of studying the robustness of results to variations in allele frequencies before conclusions are drawn. Genet. Epidemiol. 19:422–428, 2000. © 2000 Wiley‐Liss, Inc.