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Association of a Ha...
Association of a Haplotype in the Promoter Region of the Interferon Regulatory Factor 5 Gene With Rheumatoid Arthritis
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- Sigurdsson, Snaevar (author)
- Uppsala universitet,Institutionen för medicinska vetenskaper
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- Padyukov, Leonid (author)
- Karolinska Institutet
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Kurreeman, Fina A.S. (author)
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- Liljedahl, Ulrika (author)
- Uppsala universitet,Institutionen för medicinska vetenskaper
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- Wiman, Ann-Christin (author)
- Uppsala universitet,Institutionen för medicinska vetenskaper
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- Alfredsson, Lars (author)
- Karolinska Institutet
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Toes, René (author)
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- Rönnelid, Johan (author)
- Uppsala universitet,Institutionen för onkologi, radiologi och klinisk immunologi,Autoimmunitet
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- Klareskog, Lars (author)
- Karolinska Institutet
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Huizinga, Tom W.J. (author)
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Alm, Gunnar (author)
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- Syvänen, Ann-Christine (author)
- Uppsala universitet,Institutionen för medicinska vetenskaper
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- Rönnblom, Lars (author)
- Uppsala universitet,Institutionen för medicinska vetenskaper
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(creator_code:org_t)
- 2007
- 2007
- English.
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In: Arthritis and Rheumatism. - : Wiley. - 0004-3591 .- 1529-0131. ; 56:7, s. 2202-2210
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Abstract
Subject headings
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- Objective. To determine whether genetic variants of the interferon regulatory factor 5 (IRF-5) and Tyk-2 genes are associated with rheumatoid arthritis (RA). Methods. Five single-nucleotide polymorphisms (SNPs) in IRF5 and 3 SNPs in Tyk2 were analyzed in a Swedish cohort of 1,530 patients with RA and 881 controls. A replication study was performed in a Dutch cohort of 387 patients with RA and 181 controls. All patient sera were tested for the presence of autoantibodies against cyclic citrullinated peptides (anti-CCP). Results. Four of the 5 SNPs located in the 5' region of IRF5 were associated with RA, while no association was observed with the Tyk2 SNPs. The minor alleles of 3 of the IRF5 SNPs, which were in linkage disequilibrium and formed a relatively common haplotype with a frequency of ∼0.33, appeared to confer protection against RA. Although these disease associations were seen in the entire patient group, they were mainly found in RA patients who were negative for anti-CCP. A suggestive association of IRF5 SNPs with anti-CCP-negative RA was also observed in the Dutch cohort. Conclusion. Given the fact that anti-CCP-negative RA differs from anti-CCP-positive RA with respect to genetic and environmental risk factor profiles, our results indicate that genetic variants of IRF5 contribute to a unique disease etiology and pathogenesis in anti-CCP-negative RA.
Keyword
- Immunopathology
- Diseases of the osteoarticular system
- Inflammatory joint disease
- Autoimmune disease
- Cytokine
- Chronic
- Rheumatoid factor
- Interferon
- Promoter
- Haplotype
- Autoimmunity
- Rheumatoid arthritis
- MEDICINE
- MEDICIN
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Sigurdsson, Snae ...
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Padyukov, Leonid
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Kurreeman, Fina ...
-
Liljedahl, Ulrik ...
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Wiman, Ann-Chris ...
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Alfredsson, Lars
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show more...
-
Toes, René
-
Rönnelid, Johan
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Klareskog, Lars
-
Huizinga, Tom W. ...
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Alm, Gunnar
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Syvänen, Ann-Chr ...
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Rönnblom, Lars
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show less...
- Articles in the publication
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Arthritis and Rh ...
- By the university
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Uppsala University
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Karolinska Institutet