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

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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 G
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 Auglænd
dc.contributor.authorJonsson, Malin V
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.authorPRECISESADS Clinical Consortium
dc.contributor.authorShiboski, Caroline H
dc.contributor.authorSjögren’s International Collaborative Clinical Alliance (SICCA)
dc.contributor.authorWahren-Herlenius, Marie
dc.contributor.authorNg, Wan-Fai
dc.contributor.authorUK Primary Sjögren’s Syndrome Registry
dc.contributor.authorSivils, Kathy L
dc.contributor.authorAdrianto, Indra
dc.contributor.authorNordmark, Gunnel
dc.contributor.authorLessard, Christopher J
dc.date.accessioned2023-05-03T13:26:22Z
dc.date.available2023-05-03T13:26:22Z
dc.date.issued2022-07-27
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.
dc.identifier.doi10.1038/s41467-022-30773-y
dc.identifier.essn2041-1723
dc.identifier.pmcPMC9329286
dc.identifier.pmid35896530
dc.identifier.pubmedURLhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC9329286/pdf
dc.identifier.unpaywallURLhttps://www.nature.com/articles/s41467-022-30773-y.pdf
dc.identifier.urihttp://hdl.handle.net/10668/19538
dc.issue.number1
dc.journal.titleNature communications
dc.journal.titleabbreviationNat Commun
dc.language.isoen
dc.organizationCentro Pfizer-Universidad de Granada-Junta de Andalucía de Genómica e Investigación Oncológica-GENYO
dc.page.number4287
dc.pubmedtypeJournal Article
dc.pubmedtypeResearch Support, N.I.H., Extramural
dc.pubmedtypeResearch Support, Non-U.S. Gov't
dc.pubmedtypeResearch Support, N.I.H., Intramural
dc.rightsAttribution 4.0 International
dc.rights.accessRightsopen access
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.subject.meshGenetic Predisposition to Disease
dc.subject.meshGenome-Wide Association Study
dc.subject.meshHumans
dc.subject.meshPolymorphism, Single Nucleotide
dc.subject.meshSjogren's Syndrome
dc.titleGenome-wide association study identifies Sjögren's risk loci with functional implications in immune and glandular cells.
dc.typeresearch article
dc.type.hasVersionVoR
dc.volume.number13
dspace.entity.typePublication

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