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A rare regulatory v...
A rare regulatory variant in the MEF2D gene affects gene regulation and splicing and is associated with a SLE sub-phenotype in Swedish cohorts
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- Farias, Fabiana H. G. (författare)
- Sveriges lantbruksuniversitet,Swedish University of Agricultural Sciences,Uppsala University,Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab,Department of Psychiatry, Washington University School of Medicine, St. Louis, MO, 63110, USA,Department of Clinical Sciences, Swedish University of Agricultural Sciences (SLU), Box 7054, SE-750 07, Uppsala, Sweden,Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden; Department of Psychiatry, Washington University School of Medicine, St. Louis, MO, USA,Institutionen för kliniska vetenskaper (KV)
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- Dahlqvist, Johanna, 1979- (författare)
- Uppsala University,Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab,Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden
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- Kozyrev, Sergey V. (författare)
- Uppsala University,Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab,Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden
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- Leonard, Dag, 1975- (författare)
- Uppsala University,Uppsala universitet,Reumatologi,Science for Life Laboratory, SciLifeLab,Science for Life Laboratory, Department of Medical Sciences, Section of Rheumatology, Uppsala University, Uppsala, Sweden
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- Wilbe, Maria (författare)
- Sveriges lantbruksuniversitet,Uppsala University,Swedish University of Agricultural Sciences,Department of Animal Breeding and Genetics, Swedish University of Agricultural Sciences (SLU), Uppsala, Sweden,Institutionen för husdjursgenetik (HGEN)
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- Abramov, Sergei (författare)
- Uppsala University,Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Institute of Fundamental Medicine and Biology, Kazan Federal University, Kazan, 420008, Russia,Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden; Institute of Fundamental Medicine and Biology, Kazan Federal University, Kazan, Russia
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- Alexsson, Andrei (författare)
- Lund University,Lunds universitet,Uppsala University,Uppsala universitet,Reumatologi,Science for Life Laboratory, SciLifeLab,Department of Clinical Sciences Lund, Lund University, Skane University Hospital, SE-221 00, Lund, Sweden,Lund SLE Research Group,Forskargrupper vid Lunds universitet,Lund University Research Groups,Science for Life Laboratory, Department of Medical Sciences, Section of Rheumatology, Uppsala University, Uppsala, Sweden
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- Pielberg, Gerli (författare)
- Uppsala University,Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab,Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden
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- Hansson-Hamlin, Helene (författare)
- Department of Clinical Sciences, Swedish University of Agricultural Sciences (SLU), Box 7054, SE-750 07, Uppsala, Sweden
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- Andersson, Göran (författare)
- Sveriges lantbruksuniversitet,Swedish University of Agricultural Sciences,Department of Animal Breeding and Genetics, Swedish University of Agricultural Sciences (SLU), Box 7023, Uppsala, Sweden,Institutionen för husdjursgenetik (HGEN)
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- Tandre, Karolina (författare)
- Uppsala University,Uppsala universitet,Reumatologi,Science for Life Laboratory, SciLifeLab,Science for Life Laboratory, Department of Medical Sciences, Section of Rheumatology, Uppsala University, Uppsala, Sweden
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- Bengtsson, Anders A (författare)
- Department of Clinical Sciences Lund, Lund University, Skane University Hospital, SE-221 00, Lund, Sweden
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- Sjöwall, Christopher, 1975- (författare)
- Linköpings universitet,Linköping University,Avdelningen för neuro- och inflammationsvetenskap,Medicinska fakulteten,Region Östergötland, Reumatologiska kliniken i Östergötland
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- Svenungsson, Elisabet (författare)
- Karolinska Institutet,Karolinska Institute,Rheumatology Unit, Department of Medicine, Solna, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden
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- Gunnarsson, Iva (författare)
- Karolinska Institutet,Karolinska Institute,Rheumatology Unit, Department of Medicine, Solna, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden
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- Rantapää-Dahlqvist, Solbritt (författare)
- Umeå University,Umeå universitet,Reumatologi,Department of Public Health and Clinical Medicine/Rheumatology, Umeå University, SE-901 85, Umeå, Sweden
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- Syvänen, Ann-Christine, 1950- (författare)
- Uppsala University,Uppsala universitet,Molekylär medicin,Science for Life Laboratory, SciLifeLab,Science for Life Laboratory, Department of Medical Sciences, Section of Rheumatology, Uppsala University, Uppsala, Sweden; Department of Medical Sciences, Molecular Medicine and Science for Life Laboratory, Uppsala University, Uppsala, Sweden
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- Sandling, Johanna K. (författare)
- Uppsala University,Uppsala universitet,Reumatologi,Science for Life Laboratory, SciLifeLab,Science for Life Laboratory, Department of Medical Sciences, Section of Rheumatology, Uppsala University, Uppsala, Sweden
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- Eloranta, Maija-Leena (författare)
- Uppsala University,Uppsala universitet,Reumatologi,Science for Life Laboratory, SciLifeLab,Science for Life Laboratory, Department of Medical Sciences, Section of Rheumatology, Uppsala University, Uppsala, Sweden
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- Rönnblom, Lars (författare)
- Uppsala University,Uppsala universitet,Reumatologi,Science for Life Laboratory, SciLifeLab,Science for Life Laboratory, Department of Medical Sciences, Section of Rheumatology, Uppsala University, Uppsala, Sweden
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- Lindblad-Toh, Kerstin (författare)
- Uppsala University,Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab,Broad Institute, Cambridge, 7 Cambridge Center, Cambridge, MA, 02142, USA,Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden; Broad Institute, Cambridge, 7 Cambridge Center, Cambridge, MA, USA
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(creator_code:org_t)
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- 2018-11-20
- 2019
- Engelska.
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Ingår i: European Journal of Human Genetics. - : Springer Science and Business Media LLC. - 1018-4813 .- 1476-5438. ; 27, s. 432-441
- Relaterad länk:
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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://www.nature.c...
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https://umu.diva-por... (primary) (Raw object)
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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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https://urn.kb.se/re...
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https://lup.lub.lu.s...
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https://urn.kb.se/re...
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http://kipublication...
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https://res.slu.se/i...
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Abstract
Ämnesord
Stäng
- Systemic lupus erythematosus (SLE) is an autoimmune disorder with heterogeneous clinical presentation and complex etiology involving the interplay between genetic, epigenetic, environmental and hormonal factors. Many common SNPs identified by genome wide-association studies (GWAS) explain only a small part of the disease heritability suggesting the contribution from rare genetic variants, undetectable in GWAS, and complex epistatic interactions. Using targeted re-sequencing of coding and conserved regulatory regions within and around 215 candidate genes selected on the basis of their known role in autoimmunity and genes associated with canine immune-mediated diseases, we identified a rare regulatory variant rs200395694:G > T located in intron 4 of the MEF2D gene encoding the myocyte-specific enhancer factor 2D transcription factor and associated with SLE in Swedish cohorts (504 SLE patients and 839 healthy controls, p = 0.014, CI = 1.1-10). Fisher's exact test revealed an association between the genetic variant and a triad of disease manifestations including Raynaud, anti-U1-ribonucleoprotein (anti-RNP), and anti-Smith (anti-Sm) antibodies (p = 0.00037) among the patients. The DNA-binding activity of the allele was further studied by EMSA, reporter assays, and minigenes. The region has properties of an active cell-specific enhancer, differentially affected by the alleles of rs200395694:G > T. In addition, the risk allele exerts an inhibitory effect on the splicing of the alternative tissue-specific isoform, and thus may modify the target gene set regulated by this isoform. These findings emphasize the potential of dissecting traits of complex diseases and correlating them with rare risk alleles with strong biological effects.
Ämnesord
- 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 -- Reumatologi och inflammation (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Rheumatology and Autoimmunity (hsv//eng)
Nyckelord
- Medicinsk vetenskap
- Medical Science
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- ref (ämneskategori)
- art (ämneskategori)
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Farias, Fabiana ...
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Dahlqvist, Johan ...
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Kozyrev, Sergey ...
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Leonard, Dag, 19 ...
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Wilbe, Maria
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Abramov, Sergei
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visa fler...
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Alexsson, Andrei
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Pielberg, Gerli
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Hansson-Hamlin, ...
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Andersson, Göran
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Tandre, Karolina
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Bengtsson, Ander ...
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Sjöwall, Christo ...
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Svenungsson, Eli ...
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Gunnarsson, Iva
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Rantapää-Dahlqvi ...
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Syvänen, Ann-Chr ...
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Sandling, Johann ...
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Eloranta, Maija- ...
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Rönnblom, Lars
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Lindblad-Toh, Ke ...
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Uppsala universitet
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Karolinska Institutet
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