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dc.contributor.authorGonzález-Serna, David
dc.contributor.authorOchoa, Eguzkine
dc.contributor.authorLópez-Isac, Elena
dc.contributor.authorJulià, Antonio
dc.contributor.authorDegenhardt, Frauke
dc.contributor.authorOrtego-Centeno, Norberto
dc.contributor.authorRadstake, Timothy R. D. J.
dc.contributor.authorFranke, Andre
dc.contributor.authorMarsal, Sara
dc.contributor.authorMayes, Maureen D.
dc.contributor.authorMartín, Javier
dc.contributor.authorMárquez, Ana
dc.contributor.authorAssassi, Shervin
dc.contributor.authorZhou, Xiaodong
dc.contributor.authorTan, Filemon K.
dc.contributor.authorArnett, Frank C.
dc.contributor.authorReveille, John D.
dc.contributor.authorGorlova, Olga
dc.contributor.authorChen, Wei V.
dc.contributor.authorYing, Jun
dc.contributor.authorGregersen, Peter K.
dc.contributor.authorLee, Annette T.
dc.contributor.authorVoskuyl, Alexandre E.
dc.contributor.authorde Vries-Bouwstra, Jeska
dc.contributor.authorMagro-Checa, Cesar
dc.contributor.authorBroen, Jasper
dc.contributor.authorKoeleman, Bobby P. C.
dc.contributor.authorSimeón, Carmen P.
dc.contributor.authorFonollosa, Vicente
dc.contributor.authorGuillén, Alfredo
dc.contributor.authorCarreira, Patricia
dc.contributor.authorCastellví, Iván
dc.contributor.authorGonzález-Gay, Miguel A.
dc.contributor.authorRíos, Raquel
dc.contributor.authorCallejas-Rubio, Jose Luis
dc.contributor.authorVargas-Hitos, José A.
dc.contributor.authorGarcía-Portales, Rosa
dc.contributor.authorCamps, María Teresa
dc.contributor.authorFernández-Nebro, Antonio
dc.contributor.authorGonzález-Escribano, María F.
dc.contributor.authorGarcía-Hernández, Francisco José
dc.contributor.authorCastillo, Ma. Jesús
dc.contributor.authorAguirre, Ma. Ángeles
dc.contributor.authorGómez-Gracia, Inmaculada
dc.contributor.authorRodríguez-Rodríguez, Luis
dc.contributor.authorFernández-Gutiérrez, Benjamín
dc.contributor.authorde la Peña, Paloma García
dc.contributor.authorVicente, Esther
dc.contributor.authorAndreu, José Luis
dc.contributor.authorFernández de Castro, Mónica
dc.contributor.authorLópez-Longo, Francisco Javier
dc.contributor.authorMartínez, Lina
dc.contributor.authorEspinosa, Gerard
dc.contributor.authorTolosa, Carlos
dc.contributor.authorPros, Anna
dc.contributor.authorRodríguez-Carballeira, Mónica
dc.contributor.authorNarváez, Francisco Javier
dc.contributor.authorRubio-Rivas, Manel
dc.contributor.authorOrtiz-Santamaría, Vera
dc.contributor.authorMadroñero, Ana Belén
dc.contributor.authorDíaz, Bernardino
dc.contributor.authorTrapiella, Luis
dc.contributor.authorSousa, Adrián
dc.contributor.authorEgurbide, María Victoria
dc.contributor.authorFanlo-Mateo, Patricia
dc.contributor.authorSáez-Comet, Luis
dc.contributor.authorDíaz-González, Federico
dc.contributor.authorHernández, Vanesa
dc.contributor.authorBeltrán, Emma
dc.contributor.authorRomán-Ivorra, José Andrés
dc.contributor.authorGrau, Elena
dc.contributor.authorAlegre-Sancho, Juan José
dc.contributor.authorBlanco-García, Francisco J.
dc.contributor.authorOreiro, Natividad
dc.contributor.authorFreire, Mayka
dc.contributor.authorBalsa, Alejandro
dc.contributor.authorOrtiz, Ana M.
dc.contributor.authorHunzelmann, Nicolas
dc.contributor.authorRiemekasten, Gabriela
dc.contributor.authorDistler, Jörg H. W.
dc.contributor.authorWitte, Torsten
dc.contributor.authorAiró, Paolo
dc.contributor.authorBeretta, Lorenzo
dc.contributor.authorSantaniello, Alessandro
dc.contributor.authorBellocchi, Chiara
dc.contributor.authorLunardi, Claudio
dc.contributor.authorMoroncini, Gianluca
dc.contributor.authorGabrielli, Armando
dc.date.accessioned2021-02-04T16:24:21Z
dc.date.available2021-02-04T16:24:21Z
dc.date.issued2020-02-05
dc.date.submitted2019-07-17
dc.identifier.others41598-020-58741-w
dc.identifier.other58741
dc.identifier.urihttps://www.repository.cam.ac.uk/handle/1810/317144
dc.description.abstractAbstract: Genome-wide association studies (GWASs) have identified a number of genetic risk loci associated with systemic sclerosis (SSc) and Crohn’s disease (CD), some of which confer susceptibility to both diseases. In order to identify new risk loci shared between these two immune-mediated disorders, we performed a cross-disease meta-analysis including GWAS data from 5,734 SSc patients, 4,588 CD patients and 14,568 controls of European origin. We identified 4 new loci shared between SSc and CD, IL12RB2, IRF1/SLC22A5, STAT3 and an intergenic locus at 6p21.31. Pleiotropic variants within these loci showed opposite allelic effects in the two analysed diseases and all of them showed a significant effect on gene expression. In addition, an enrichment in the IL-12 family and type I interferon signaling pathways was observed among the set of SSc-CD common genetic risk loci. In conclusion, through the first cross-disease meta-analysis of SSc and CD, we identified genetic variants with pleiotropic effects on two clinically distinct immune-mediated disorders. The fact that all these pleiotropic SNPs have opposite allelic effects in SSc and CD reveals the complexity of the molecular mechanisms by which polymorphisms affect diseases.
dc.languageen
dc.publisherNature Publishing Group UK
dc.rightsAttribution 4.0 International (CC BY 4.0)en
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/en
dc.subjectArticle
dc.subject/692/699/249/2510
dc.subject/692/499
dc.subject/45/43
dc.subject/45
dc.subjectarticle
dc.titleA cross-disease meta-GWAS identifies four new susceptibility loci shared between systemic sclerosis and Crohn’s disease
dc.typeArticle
dc.date.updated2021-02-04T16:24:21Z
prism.issueIdentifier1
prism.publicationNameScientific Reports
prism.volume10
dc.identifier.doi10.17863/CAM.64255
dcterms.dateAccepted2019-12-19
rioxxterms.versionofrecord10.1038/s41598-020-58741-w
rioxxterms.versionVoR
rioxxterms.licenseref.urihttp://creativecommons.org/licenses/by/4.0/
dc.contributor.orcidJulià, Antonio [0000-0001-6064-3620]
dc.contributor.orcidFranke, Andre [0000-0003-1530-5811]
dc.contributor.orcidMayes, Maureen D. [0000-0001-5070-2535]
dc.identifier.eissn2045-2322
pubs.funder-project-idMinisterio de Economía y Competitividad (Ministry of Economy and Competitiveness) (IPT-010000-2010-36)
pubs.funder-project-idMinistry of Economy and Competitiveness | Instituto de Salud Carlos III (Institute of Health Carlos III) (CP17/00008)


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Attribution 4.0 International (CC BY 4.0)
Except where otherwise noted, this item's licence is described as Attribution 4.0 International (CC BY 4.0)