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Genome-wide association study identifies Sjögren’s risk loci with functional implications in immune and glandular cells

dc.contributor.authorKhatri, Bhuwan
dc.contributor.authorTessneer, Kandice L.
dc.contributor.authorRasmussen, Astrid
dc.contributor.authorAghakhanian, Farhang
dc.contributor.authorReksten, Tove Ragna
dc.contributor.authorAdler, Adam
dc.contributor.authorAlevizos, Ilias
dc.contributor.authorAnaya, Juan-Manuel
dc.contributor.authorAqrawi, Lara A.
dc.contributor.authorBaecklund, Eva
dc.contributor.authorBrun, Johan Gorgas
dc.contributor.authorBucher, Sara Magnusson
dc.contributor.authorEloranta, Maija-Leena
dc.contributor.authorEngelke, Fiona
dc.contributor.authorForsblad-d’Elia, Helena
dc.contributor.authorGlenn, Stuart B.
dc.contributor.authorHammenfors, Daniel
dc.contributor.authorImgenberg-Kreuz, Juliana
dc.contributor.authorJensen, Janicke Liaaen
dc.contributor.authorJohnsen, Svein Joar Auglæn
dc.contributor.authorJonsson, Malin Viktoria
dc.contributor.authorKvarnström, Marika
dc.contributor.authorKelly, Jennifer A.
dc.contributor.authorLi, He
dc.contributor.authorMandl, Thomas
dc.contributor.authorMartín, Javier
dc.contributor.authorNocturne, Gaétane
dc.contributor.authorNorheim, Katrine Brække
dc.contributor.authorPalm, Øyvind
dc.contributor.authorSkarstein, Kathrine
dc.contributor.authorStolarczyk, Anna M.
dc.contributor.authorTaylor, Kimberly E.
dc.contributor.authorTeruel, Maria
dc.contributor.authorTheander, Elke
dc.contributor.authorVenuturupalli, Swamy
dc.contributor.authorWallace, Daniel J.
dc.contributor.authorGrundahl, Kiely M.
dc.contributor.authorHefner, Kimberly S.
dc.contributor.authorRadfar, Lida
dc.contributor.authorLewis, David M.
dc.contributor.authorStone, Donald U.
dc.contributor.authorKaufman, C. Erick
dc.contributor.authorBrennan, Michael T.
dc.contributor.authorGuthridge, Joel M.
dc.contributor.authorJames, Judith A.
dc.contributor.authorScofield, R. Hal
dc.contributor.authorGaffney, Patrick M.
dc.contributor.authorCriswell, Lindsey A.
dc.contributor.authorJonsson, Roland
dc.contributor.authorEriksson, Per
dc.contributor.authorBowman, Simon J.
dc.contributor.authorOmdal, Roald
dc.contributor.authorRönnblom, Lars
dc.contributor.authorWarner, Blake
dc.contributor.authorRischmueller, Maureen
dc.contributor.authorWitte, Torsten
dc.contributor.authorFarris, A. Darise
dc.contributor.authorMariette, Xavier
dc.contributor.authorAlarcon-Riquelme, Marta E.
dc.contributor.authorShiboski, Caroline H.
dc.contributor.authorHerlenius, Marie Elisabeth Wahren
dc.contributor.authorNg, Wan-Fai
dc.contributor.authorSivils, Kathy L.
dc.contributor.authorAdrianto, Indra
dc.contributor.authorNordmark, Gunnel
dc.contributor.authorLessard, Christopher J.
dc.date.accessioned2022-09-28T07:50:47Z
dc.date.available2022-09-28T07:50:47Z
dc.date.created2022-09-07T14:47:30Z
dc.date.issued2022
dc.identifier.citationNature Communications. 2022, 13 (1).en_US
dc.identifier.issn2041-1723
dc.identifier.urihttps://hdl.handle.net/11250/3022028
dc.description.abstractSjögren’s disease is a complex autoimmune disease with twelve established susceptibility loci. This genome-wide association study (GWAS) identifies ten novel genome-wide significant (GWS) regions in Sjögren’s cases of European ancestry: CD247, NAB1, PTTG1-MIR146A, PRDM1-ATG5, TNFAIP3, XKR6, MAPT-CRHR1, RPTOR-CHMP6-BAIAP6, TYK2, SYNGR1. Polygenic risk scores yield predictability (AUROC = 0.71) and relative risk of 12.08. Interrogation of bioinformatics databases refine the associations, define local regulatory networks of GWS SNPs from the 95% credible set, and expand the implicated gene list to >40. Many GWS SNPs are eQTLs for genes within topologically associated domains in immune cells and/or eQTLs in the main target tissue, salivary glands.en_US
dc.description.sponsorshipResearch reported in this publication was supported by the National Institutes of Health (NIH): R01AR073855 (C.J.L.), R01AR065953 (C.J.L.), R01AR074310 (A.D.F.), P50AR060804 (K.L.S.), R01AR050782 (K.L.S), R01DE018209 (K.L.S.), R33AR076803 (I.A.), R21AR079089 (I.A.); NIDCR Sjögren’s Syndrome Clinic and Salivary Disorders Unit were supported by NIDCR Division of Intramural Research at the National Institutes of Health funds - Z01-DE000704 (B.W.); Birmingham NIHR Biomedical Research Centre (S.J.B.); Deutsche Forschungsgemeinschaft (DFG, German Research Foundation) under Germany’s Excellence Strategy – EXC 2155 – Projektnummer 390874280 (T.W.); Research Council of Norway (Oslo, Norway) – Grant 240421 (TR.R.), 316120 (M.W-H.); Western Norway Regional Health Authority (Helse Vest) – 911807, 912043 (R.O.); Swedish Research Council for Medicine and Health (L.R., G.N., M.W-H.); Swedish Rheumatism Association (L.R., G.N., M.W-H.); King Gustav V’s 80-year Foundation (G.N.); Swedish Society of Medicine (L.R., G.N., M.W-H.); Swedish Cancer Society (E.B.); Sjögren’s Syndrome Foundation (K.L.S.); Phileona Foundation (K.L.S.). The Stockholm County Council (M.W-H.); The Swedish Twin Registry is managed through the Swedish Research Council - Grant 2017-000641. The French ASSESS (Atteinte Systémique et Evolution des patients atteints de Syndrome de Sjögren primitive) was sponsored by Assistance Publique-Hôpitaux de Paris (Ministry of Health, PHRC 2006 P060228) and the French society of Rheumatology (X.M.).en_US
dc.language.isoengen_US
dc.rightsNavngivelse 4.0 Internasjonal*
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/deed.no*
dc.titleGenome-wide association study identifies Sjögren’s risk loci with functional implications in immune and glandular cellsen_US
dc.title.alternativeGenome-wide association study identifies Sjögren’s risk loci with functional implications in immune and glandular cellsen_US
dc.typePeer revieweden_US
dc.typeJournal articleen_US
dc.description.versionpublishedVersionen_US
dc.source.pagenumber17.en_US
dc.source.volume13en_US
dc.source.journalNature Communicationsen_US
dc.source.issue1en_US
dc.identifier.doi10.1038/s41467-022-30773-y
dc.identifier.cristin2049571
dc.relation.projectNorges forskningsråd: 240421en_US
dc.relation.projectHelse Vest: 911807en_US
dc.relation.projectHelse Vest: 912043en_US
dc.source.articlenumber4287en_US
cristin.ispublishedtrue
cristin.fulltextoriginal
cristin.qualitycode2


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