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dc.contributor.authorOlafsson, S.en_US
dc.contributor.authorStridh, P.en_US
dc.contributor.authorBos, Steffan Danielen_US
dc.contributor.authorIngason, Andrésen_US
dc.contributor.authorEuesden, Jen_US
dc.contributor.authorSulem, Patricken_US
dc.contributor.authorThorleifsson, Gudmaren_US
dc.contributor.authorGustafsson, Oen_US
dc.contributor.authorGeirsson, AJen_US
dc.contributor.authorJóhannesson, Ari J.en_US
dc.contributor.authorThorsson, AVen_US
dc.contributor.authorLudviksson, BRen_US
dc.contributor.authorSigurgeirsson, Barduren_US
dc.contributor.authorJonasson, JGen_US
dc.contributor.authorOlafsson, Een_US
dc.contributor.authorKristjansdottir, Hen_US
dc.contributor.authorOlafsson, JHen_US
dc.contributor.authorOrvar, KBen_US
dc.contributor.authorBenediktsson, Rafnen_US
dc.contributor.authorBjarnason, Ragnaren_US
dc.contributor.authorKristjansdottir, Sjofnen_US
dc.contributor.authorGislason, Thorarinen_US
dc.contributor.authorValdimarsson, Ten_US
dc.contributor.authorMikaelsdottir, Een_US
dc.contributor.authorSigurdsson, Sen_US
dc.contributor.authorJonsson, Sen_US
dc.contributor.authorRafnar, Thorunnen_US
dc.contributor.authorAarsland, Dagen_US
dc.contributor.authorDjurovic, Srdjanen_US
dc.contributor.authorFladby, Tormoden_US
dc.contributor.authorKnudsen, Gun Peggy S.en_US
dc.contributor.authorCelius, Elisabeth Gulowsenen_US
dc.contributor.authorMyhr, Kjell-Mortenen_US
dc.contributor.authorGröndal, Gerduren_US
dc.contributor.authorSteinsson, Ken_US
dc.contributor.authorValdimarsson, Helgien_US
dc.contributor.authorBjornsson, Sigurduren_US
dc.contributor.authorBjornsdottir, USen_US
dc.contributor.authorBjornsson, Einar S.en_US
dc.contributor.authorNilsson, Ben_US
dc.contributor.authorAndreassen, Ole Andreasen_US
dc.contributor.authorAlfredsson, Larsen_US
dc.contributor.authorHillert, Janen_US
dc.contributor.authorKockum, Ingriden_US
dc.contributor.authorMásson, Gíslien_US
dc.contributor.authorThorsteinssdottir, Uen_US
dc.contributor.authorGudbjartsson, Daniel F.en_US
dc.contributor.authorStefansson, Hen_US
dc.contributor.authorHjaltason, Hen_US
dc.contributor.authorHarbo, Hanne Flinstaden_US
dc.contributor.authorOlsson, Ten_US
dc.contributor.authorJonsdottir, Ien_US
dc.contributor.authorStefansson, Ken_US
dc.date.accessioned2018-04-11T10:46:26Z
dc.date.available2018-04-11T10:46:26Z
dc.date.issued2017
dc.PublishedOlafsson S, Stridh P, Bos SD, Ingason A, Euesden, Sulem P, Thorleifsson G, Gustafsson O, Geirsson, Jóhannesson AJ, Thorsson, Ludviksson, Sigurgeirsson B, Jonasson J, Olafsson, Kristjansdottir H, Olafsson, Orvar, Benediktsson R, Bjarnason R, Kristjansdottir, Gislason T, Valdimarsson, Mikaelsdottir, Sigurdsson S, Jonsson S, Rafnar T, Aarsland D, Djurovic S, Fladby T, Knudsen GPS, Celius EG, Myhr KM, Gröndal G, Steinsson K, Valdimarsson, Bjornsson, Bjornsdottir, Bjornsson ES, Nilsson B, Andreassen OA, Alfredsson L, Hillert J, Kockum I, Másson G, Thorsteinssdottir, Gudbjartsson DF, Stefansson H, Hjaltason, Harbo HF, Olsson T, Jonsdottir I, Stefansson K. Fourteen sequence variants that associate with multiple sclerosis discovered by meta-analysis informed by genetic correlations.. NPJ Genomic Medicine. 2017;2:24eng
dc.identifier.issn2056-7944
dc.identifier.urihttps://hdl.handle.net/1956/17600
dc.description.abstractA 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 x 10(-7), 4.3 x 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.en_US
dc.language.isoengeng
dc.publisherNature Publishing Groupeng
dc.relation.urihttp://www.nature.com/articles/s41525-017-0027-2
dc.rightsAttribution CC BYeng
dc.rights.urihttp://creativecommons.org/licenses/by/4.0eng
dc.titleFourteen sequence variants that associate with multiple sclerosis discovered by meta-analysis informed by genetic correlationsen_US
dc.typePeer reviewed
dc.typeJournal article
dc.date.updated2018-01-25T09:44:13Z
dc.description.versionpublishedVersionen_US
dc.rights.holderCopyright 2017 The Author(s)
dc.identifier.doihttps://doi.org/10.1038/s41525-017-0027-2
dc.identifier.cristin1549309
dc.source.journalNPJ Genomic Medicine
dc.relation.projectStiftelsen Kristian Gerhard Jebsen: SKGJ-MED-008
dc.relation.projectNorges forskningsråd: 223273


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