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  • Olafsson, SdeCODE Genetics (author)

Fourteen sequence variants that associate with multiple sclerosis discovered by meta-analysis informed by genetic correlations

  • Article/chapterEnglish2017

Publisher, publication year, extent ...

  • 2017-08-08
  • Springer Science and Business Media LLC,2017

Numbers

  • LIBRIS-ID:oai:prod.swepub.kib.ki.se:136895641
  • http://kipublications.ki.se/Default.aspx?queryparsed=id:136895641URI
  • https://doi.org/10.1038/s41525-017-0027-2DOI
  • https://lup.lub.lu.se/record/e7a61e6b-fa4d-41f2-a091-9e246e6a4b36URI

Supplementary language notes

  • Language:English
  • Summary in:English

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  • Subject category:ref swepub-contenttype
  • Subject category:art swepub-publicationtype

Notes

  • A meta-analysis of publicly available summary statistics on multiple sclerosis combined with three Nordic multiple sclerosis cohorts (21,079 cases, 371,198 controls) revealed seven sequence variants associating with multiple sclerosis, not reported previously. Using polygenic risk scores based on public summary statistics of variants outside the major histocompatibility complex region we quantified genetic overlap between common autoimmune diseases in Icelanders and identified disease clusters characterized by autoantibody presence/absence. As multiple sclerosis-polygenic risk scores captures the risk of primary biliary cirrhosis and vice versa (P = 1.6 × 10−7, 4.3 × 10−9) we used primary biliary cirrhosis as a proxy-phenotype for multiple sclerosis, the idea being that variants conferring risk of primary biliary cirrhosis have a prior probability of conferring risk of multiple sclerosis. We tested 255 variants forming the primary biliary cirrhosis-polygenic risk score and found seven multiple sclerosis-associating variants not correlated with any previously established multiple sclerosis variants. Most of the variants discovered are close to or within immune-related genes. One is a low-frequency missense variant in TYK2, another is a missense variant in MTHFR that reduces the function of the encoded enzyme affecting methionine metabolism, reported to be dysregulated in multiple sclerosis brain.

Subject headings and genre

Added entries (persons, corporate bodies, meetings, titles ...)

  • Stridh, PKarolinska Institute,Karolinska Institutet (author)
  • Bos, SDUniversity of Oslo,Oslo university hospital,deCODE Genetics (author)
  • Ingason, AdeCODE Genetics (author)
  • Euesden, JUniversity of Bristol,King's College London,deCODE Genetics (author)
  • Sulem, PdeCODE Genetics (author)
  • Thorleifsson, GdeCODE Genetics (author)
  • Gustafsson, OdeCODE Genetics (author)
  • Johannesson, ANational University Hospital of Iceland (author)
  • Geirsson, AJ (author)
  • Thorsson, AVNational University Hospital of Iceland (author)
  • Sigurgeirsson, BNational University Hospital of Iceland (author)
  • Ludviksson, BRNational University Hospital of Iceland (author)
  • Olafsson, ENational University Hospital of Iceland,University of Iceland (author)
  • Kristjansdottir, HNational University Hospital of Iceland (author)
  • Jonasson, JGNational University Hospital of Iceland (author)
  • Olafsson, JHKarolinska Institute,National University Hospital of Iceland (author)
  • Orvar, KB (author)
  • Benediktsson, R (author)
  • Bjarnason, R (author)
  • Kristjansdottir, S (author)
  • Gislason, TNational University Hospital of Iceland,University of Iceland (author)
  • Valdimarsson, T (author)
  • Mikaelsdottir, EdeCODE Genetics (author)
  • Sigurdsson, S (author)
  • Jonsson, SdeCODE Genetics,National University Hospital of Iceland (author)
  • Rafnar, TdeCODE Genetics (author)
  • Aarsland, DKarolinska Institutet,Stavanger University Hospital,King's College London (author)
  • Djurovic, S (author)
  • Fladby, TAkershus University Hospital (author)
  • Knudsen, GPNorwegian Institute of Public Health (author)
  • Celius, EGOslo university hospital,University of Oslo (author)
  • Myhr, KMUniversity of Bergen,Haukeland University Hospital (author)
  • Grondal, G (author)
  • Steinsson, KNational University Hospital of Iceland,deCODE Genetics (author)
  • Valdimarsson, HUniversity of Iceland,National University Hospital of Iceland (author)
  • Bjornsson, S (author)
  • Bjornsdottir, US (author)
  • Bjornsson, ES (author)
  • Nilsson, BjornLund University,Lunds universitet,Avdelningen för hematologi och transfusionsmedicin,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Hematology and Transfusion Medicine,Department of Laboratory Medicine,Faculty of Medicine(Swepub:lu)klin-bni (author)
  • Andreassen, OAOslo university hospital (author)
  • Alfredsson, LStockholm County Council,Karolinska Institute,Karolinska Institutet (author)
  • Hillert, JKarolinska Institutet (author)
  • Kockum, ISKarolinska Institute,Karolinska Institutet (author)
  • Masson, GdeCODE Genetics (author)
  • Thorsteinsdottir, UdeCODE Genetics,University of Iceland (author)
  • Gudbjartsson, DFUniversity of Iceland,deCODE Genetics (author)
  • Stefansson, HdeCODE Genetics (author)
  • Hjaltason, H (author)
  • Harbo, HFUniversity of Oslo,Oslo university hospital (author)
  • Olsson, TKarolinska Institute,Karolinska Institutet (author)
  • Jonsdottir, IUniversity of Iceland,National University Hospital of Iceland,deCODE Genetics (author)
  • Stefansson, K (author)
  • Karolinska InstitutetdeCODE Genetics (creator_code:org_t)

Related titles

  • In:NPJ genomic medicine: Springer Science and Business Media LLC2, s. 24-2056-7944

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