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Association of the PD-1.3A allele of the PDCD1 gene in patients with rheumatoid arthritis negative for rheumatoid factor and the shared epitope
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology.
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2004 (English)In: Arthritis and Rheumatism, ISSN 0004-3591, E-ISSN 1529-0131, Vol. 50, no 6, 1770-3 p.Article in journal (Refereed) Published
Abstract [en]

OBJECTIVE: To study the frequency of allele A of polymorphism PD-1.3 of the PDCD1 gene in patients with rheumatoid arthritis (RA) and its subsets, based on the presence of rheumatoid factor (RF) and the shared epitope (SE) alleles. METHODS: A total of 1,175 patients with RA and 3,404 controls were genotyped for the PD-1.3 A/G polymorphism, which previously was identified as being involved in susceptibility to systemic lupus erythematosus (SLE) in patients of European descent. RESULTS: We first detected a trend for association of allele A of the single-nucleotide polymorphism PD-1.3 with RA (P = 0.053, odds ratio [OR] 1.18, 95% confidence interval [95% CI] 0.99-1.41). To further clarify the nature of this association, patients with RA were divided into 4 groups according to the presence of RF and the SE alleles. Association was found only in the group of patients negative for both RF and the SE alleles (P = 0.0054 [corrected P = 0.015], OR 1.75, 95% CI 1.15-2.65). CONCLUSION: Patients negative for both RF and the SE alleles showed association with the same allele that we previously identified as being involved in susceptibility to SLE. These results provide the first evidence of the involvement of the human PDCD1 gene in arthritis.

Place, publisher, year, edition, pages
2004. Vol. 50, no 6, 1770-3 p.
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Medical and Health Sciences
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URN: urn:nbn:se:uu:diva-65730DOI: 10.1002/art.20280PubMedID: 15188352OAI: oai:DiVA.org:uu-65730DiVA: diva2:93641
Available from: 2008-10-17 Created: 2008-10-17 Last updated: 2017-11-28Bibliographically approved

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