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Genetic variants at...
Genetic variants at the RTP4/MASP1 locus are associated with fatigue in Scandinavian patients with primary Sjogren's syndrome
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- Norheim, Katrine Braekke (author)
- Stavanger Univ Hosp, Dept Internal Med, Clin Immunol Unit, Stavanger, Norway.;Univ Bergen, Dept Clin Sci, Bergen, Norway.,Stavanger University Hospital
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- Imgenberg-Kreuz, Juliana (author)
- Uppsala universitet,Reumatologi,Science for Life Laboratory, SciLifeLab,Stavanger Univ Hosp, Dept Internal Med, Clin Immunol Unit, Stavanger, Norway.,Stavanger University Hospital
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- Alexsson, Andrei (author)
- Uppsala University,Uppsala universitet,Reumatologi,Science for Life Laboratory, SciLifeLab
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- Johnsen, Svein Joar Auglaend (author)
- Stavanger Univ Hosp, Dept Internal Med, Clin Immunol Unit, Stavanger, Norway.,Stavanger University Hospital
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- Bårdsen, Kjetil (author)
- Stavanger Univ Hosp, Dept Internal Med, Clin Immunol Unit, Stavanger, Norway.,Stavanger University Hospital
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- Brun, Johan Gorgas (author)
- Univ Bergen, Dept Clin Sci, Bergen, Norway.;Haukeland Hosp, Dept Rheumatol, Bergen, Norway.,University of Bergen
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- Kiani Dehkordi, Rezvan (author)
- Uppsala University,Uppsala universitet,Reumatologi,Science for Life Laboratory, SciLifeLab
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- Theander, Elke (author)
- Lund University,Lunds universitet,Reumatologi,Forskargrupper vid Lunds universitet,Rheumatology,Lund University Research Groups,Lund Univ, Dept Clin Sci, Lund, Sweden.
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- Mandl, Thomas (author)
- Lund University,Lunds universitet,Reumatologi,Forskargrupper vid Lunds universitet,Rheumatology,Lund University Research Groups,Lund Univ, Dept Clin Sci, Lund, Sweden.
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- Jonsson, Roland (author)
- Univ Bergen, Dept Clin Sci, Bergen, Norway.,University of Bergen
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- Ng, Wan-Fai (author)
- Newcastle Upon Tyne Hosp NHS Fdn Trust, Newcastle Upon Tyne, Tyne & Wear, England.;Newcastle Univ, Translat & Clin Res Inst, Newcastle Upon Tyne, Tyne & Wear, England.,Newcastle upon Tyne Hospitals NHS Trust
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- Lessard, Christopher J. (author)
- Oklahoma Med Res Fdn, Genes & Human Dis Res Program, 825 NE 13th St, Oklahoma City, OK 73104 USA.,Oklahoma Medical Research Foundation
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- Rasmussen, Astrid (author)
- Oklahoma Med Res Fdn, Arthrit & Clin Immunol Res Program, 825 NE 13th St, Oklahoma City, OK 73104 USA.,Oklahoma Medical Research Foundation
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- Sivilis, Kathy (author)
- Johnson & Johnson, Janssen Pharmaceut Co, Translat Sci, Rheumatol, New York, NY USA.,Janssen Pharmaceuticals, US
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- Rönnblom, Lars (author)
- Uppsala University,Uppsala universitet,Reumatologi,Science for Life Laboratory, SciLifeLab
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- Omdal, Roald (author)
- Stavanger Univ Hosp, Dept Internal Med, Clin Immunol Unit, Stavanger, Norway.;Univ Bergen, Dept Clin Sci, Bergen, Norway.,Stavanger University Hospital
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Stavanger Univ Hosp, Dept Internal Med, Clin Immunol Unit, Stavanger, Norway;Univ Bergen, Dept Clin Sci, Bergen, Norway. Stavanger University Hospital (creator_code:org_t)
- 2021-12-14
- 2021
- English.
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In: RMD Open. - : BMJ Publishing Group Ltd. - 2056-5933. ; 7:3
- Related links:
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https://doi.org/10.1...
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https://uu.diva-port... (primary) (Raw object)
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https://rmdopen.bmj....
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http://dx.doi.org/10... (free)
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
Subject headings
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- Objectives Fatigue is common and severe in primary Sjogren's syndrome (pSS). The aim of this study was to identify genetic determinants of fatigue in pSS through a genome-wide association study. Methods Patients with pSS from Norway, Sweden, UK and USA with fatigue and genotype data available were included. After genotype imputation and quality control, 682 patients and 4 966 157 genetic markers were available. Association analysis in each cohort using linear regression with fatigue as a continuous variable and meta-analyses between the cohorts were performed. Results Meta-analysis of the Norwegian and Swedish cohorts identified five polymorphisms within the same linkage disequilibrium block at the receptor transporter protein 4 (RTP4)/MASP1 locus associated with fatigue with genome-wide significance (GWS) (p<5x10(-8)). Patients homozygous for the major allele scored 25 mm higher on the fatigue Visual Analogue Scale than patients homozygous for the minor allele. There were no variants associated with fatigue with GWS in meta-analyses of the US/UK cohorts, or all four cohorts. RTP4 expression in pSS B cells was upregulated and positively correlated with the type I interferon score. Expression quantitative trait loci effects in whole blood for fatigue-associated variants at RTP4/MASP1 and levels of RTP4 and MASP1 expression were identified. Conclusion Genetic variations at RTP4/MASP1 are associated with fatigue in Scandinavian pSS patients. RTP4 encodes a Golgi chaperone that influences opioid pain receptor function and MASP1 is involved in complement activation. These results add evidence for genetic influence over fatigue in pSS.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Reumatologi och inflammation (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Rheumatology and Autoimmunity (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cancer and Oncology (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Kardiologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cardiac and Cardiovascular Systems (hsv//eng)
Keyword
- polymorphism
- genetic
- sjogren's syndrome
- autoimmune diseases
Publication and Content Type
- ref (subject category)
- art (subject category)
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Norheim, Katrine ...
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Imgenberg-Kreuz, ...
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Alexsson, Andrei
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Johnsen, Svein J ...
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Bårdsen, Kjetil
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Brun, Johan Gorg ...
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Kiani Dehkordi, ...
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Theander, Elke
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Mandl, Thomas
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Jonsson, Roland
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Ng, Wan-Fai
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Lessard, Christo ...
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Rasmussen, Astri ...
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Sivilis, Kathy
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Rönnblom, Lars
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Omdal, Roald
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