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A rare regulatory v...
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Farias, Fabiana H. G.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)
(författare)
A rare regulatory variant in the MEF2D gene affects gene regulation and splicing and is associated with a SLE sub-phenotype in Swedish cohorts
- Artikel/kapitelEngelska2019
Förlag, utgivningsår, omfång ...
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2018-11-20
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Springer Science and Business Media LLC,2019
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electronicrdacarrier
Nummerbeteckningar
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LIBRIS-ID:oai:DiVA.org:uu-368313
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https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-368313URI
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https://doi.org/10.1038/s41431-018-0297-xDOI
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https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-156863URI
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https://lup.lub.lu.se/record/38dd5a12-9a2a-416a-9911-5f27332bf67dURI
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https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-154620URI
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http://kipublications.ki.se/Default.aspx?queryparsed=id:140300114URI
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https://res.slu.se/id/publ/98692URI
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Språk:engelska
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Sammanfattning på:engelska
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Ämneskategori:ref swepub-contenttype
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Ämneskategori:art swepub-publicationtype
Anmärkningar
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These authors contributed equally: Johanna Dahlqvist, Sergey V. Kozyrev, Dag Leonard, Maria Wilbe
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Funding agencies: Knut and Alice Wallenberg Foundation; Swedish Research Council; Swedish Research Council FORMAS; Swedish Rheumatism Foundation; King Gustaf Vs 80-Year Foundation; Swedish Institute scholarship; King Gustav V 80th years Foundation scholarship; Kazan Federa
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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 och genrebeteckningar
Biuppslag (personer, institutioner, konferenser, titlar ...)
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Dahlqvist, Johanna,1979-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(Swepub:uu)johda205
(författare)
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Kozyrev, Sergey V.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(Swepub:uu)sekoz957
(författare)
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Leonard, Dag,1975-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(Swepub:uu)dagle338
(författare)
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Wilbe, MariaSveriges 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)(Swepub:slu)46695
(författare)
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Abramov, SergeiUppsala 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(Swepub:uu)serab900
(författare)
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Alexsson, AndreiLund 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(Swepub:lu)reum-abe
(författare)
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Pielberg, GerliUppsala 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(Swepub:uu)gepie020
(författare)
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Hansson-Hamlin, HeleneDepartment of Clinical Sciences, Swedish University of Agricultural Sciences (SLU), Box 7054, SE-750 07, Uppsala, Sweden
(författare)
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Andersson, GöranSveriges 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)(Swepub:slu)50422
(författare)
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Tandre, KarolinaUppsala University,Uppsala universitet,Reumatologi,Science for Life Laboratory, SciLifeLab,Science for Life Laboratory, Department of Medical Sciences, Section of Rheumatology, Uppsala University, Uppsala, Sweden(Swepub:uu)karotand
(författare)
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Bengtsson, Anders ADepartment of Clinical Sciences Lund, Lund University, Skane University Hospital, SE-221 00, Lund, Sweden
(författare)
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Sjöwall, Christopher,1975-Linköpings universitet,Linköping University,Avdelningen för neuro- och inflammationsvetenskap,Medicinska fakulteten,Region Östergötland, Reumatologiska kliniken i Östergötland(Swepub:liu)chrsj93
(författare)
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Svenungsson, ElisabetKarolinska Institutet,Karolinska Institute,Rheumatology Unit, Department of Medicine, Solna, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden
(författare)
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Gunnarsson, IvaKarolinska Institutet,Karolinska Institute,Rheumatology Unit, Department of Medicine, Solna, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden
(författare)
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Rantapää-Dahlqvist, SolbrittUmeå University,Umeå universitet,Reumatologi,Department of Public Health and Clinical Medicine/Rheumatology, Umeå University, SE-901 85, Umeå, Sweden(Swepub:umu)sora0001
(författare)
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Syvänen, Ann-Christine,1950-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(Swepub:uu)anncsyva
(författare)
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Sandling, Johanna K.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(Swepub:uu)josan062
(författare)
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Eloranta, Maija-LeenaUppsala University,Uppsala universitet,Reumatologi,Science for Life Laboratory, SciLifeLab,Science for Life Laboratory, Department of Medical Sciences, Section of Rheumatology, Uppsala University, Uppsala, Sweden(Swepub:uu)maelo020
(författare)
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Rönnblom, LarsUppsala University,Uppsala universitet,Reumatologi,Science for Life Laboratory, SciLifeLab,Science for Life Laboratory, Department of Medical Sciences, Section of Rheumatology, Uppsala University, Uppsala, Sweden(Swepub:uu)larsronn
(författare)
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Lindblad-Toh, KerstinUppsala 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(Swepub:lu)med-klb
(författare)
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Uppsala universitetInstitutionen för medicinsk biokemi och mikrobiologi
(creator_code:org_t)
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Sveriges lantbruksuniversitet
Sammanhörande titlar
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Ingår i:European Journal of Human Genetics: Springer Science and Business Media LLC27, s. 432-4411018-48131476-5438
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