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Genetic variants an...
Genetic variants and disease-associated factors contribute to enhanced interferon regulatory factor 5 expression in blood cells of patients with systemic lupus erythematosus
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Feng, Di (author)
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Stone, Rivka C. (author)
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- Eloranta, Maija-Leena (author)
- Uppsala universitet,Institutionen för medicinska vetenskaper,Systemic Autoimmunity,Uppsala University
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Sangster-Guity, Niquiche (author)
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- Nordmark, Gunnel (author)
- Uppsala universitet,Institutionen för medicinska vetenskaper,Systemic Autoimmunity
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- Sigurdsson, Snaevar (author)
- Uppsala universitet,Institutionen för medicinska vetenskaper
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- Wang, Chuan (author)
- Uppsala universitet,Institutionen för medicinska vetenskaper,Molecular Medicine
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- Alm, Gunnar (author)
- Swedish University of Agricultural Sciences,Sveriges lantbruksuniversitet,Institutionen för molekylär biovetenskap,Department of Molecular Biosciences
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- Syvänen, Ann-Christine (author)
- Uppsala universitet,Institutionen för medicinska vetenskaper,Molecular Medicine
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- Rönnblom, Lars (author)
- Uppsala universitet,Institutionen för medicinska vetenskaper,Systemic Autoimmunity
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Barnes, Betsy J. (author)
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(creator_code:org_t)
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- Wiley, 2010
- 2010
- English.
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In: Arthritis and Rheumatism. - : Wiley. - 0004-3591 .- 1529-0131. ; 62:2, s. 562-573
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https://urn.kb.se/re...
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Abstract
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- OBJECTIVE: Genetic variants of the interferon (IFN) regulatory factor 5 gene (IRF5) are associated with susceptibility to systemic lupus erythematosus (SLE). The contribution of these variants to IRF-5 expression in primary blood cells of SLE patients has not been addressed, nor has the role of type I IFNs. The aim of this study was to determine the association between increased IRF-5 expression and the IRF5 risk haplotype in SLE patients. METHODS: IRF-5 transcript and protein levels in 44 Swedish patients with SLE and 16 healthy controls were measured by quantitative real-time polymerase chain reaction, minigene assay, and flow cytometry. Single-nucleotide polymorphisms rs2004640, rs10954213, and rs10488631 and the CGGGG insertion/deletion were genotyped in these patients. Genotypes of these polymorphisms defined both a common risk haplotype and a common protective haplotype. RESULTS: IRF-5 expression and alternative splicing were significantly up-regulated in SLE patients compared with healthy donors. Enhanced transcript and protein levels were associated with the risk haplotype of IRF5; rs10488631 displayed the only significant independent association that correlated with increased transcription from the noncoding first exon 1C. Minigene experiments demonstrated an important role for rs2004640 and the CGGGG insertion/deletion, along with type I IFNs, in regulating IRF5 expression. CONCLUSION: This study provides the first formal proof that IRF-5 expression and alternative splicing are significantly up-regulated in primary blood cells of patients with SLE. Furthermore, the risk haplotype is associated with enhanced IRF-5 transcript and protein expression in patients with SLE.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Reumatologi och inflammation (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Rheumatology and Autoimmunity (hsv//eng)
Keyword
- IRF5
- type I IFN
- interferon
- lupus
- SLE
- Rheumatology
- Reumatologi
- Medicin
- Medicine
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Feng, Di
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Stone, Rivka C.
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Eloranta, Maija- ...
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Sangster-Guity, ...
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Nordmark, Gunnel
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Sigurdsson, Snae ...
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show more...
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Wang, Chuan
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Alm, Gunnar
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Syvänen, Ann-Chr ...
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Rönnblom, Lars
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Barnes, Betsy J.
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Rheumatology and ...
- Articles in the publication
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Arthritis and Rh ...
- By the university
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Uppsala University
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Swedish University of Agricultural Sciences