000086240 001__ 86240
000086240 005__ 20200716101542.0
000086240 0247_ $$2doi$$a10.1038/s41467-019-12760-y
000086240 0248_ $$2sideral$$a114765
000086240 037__ $$aART-2019-114765
000086240 041__ $$aeng
000086240 100__ $$aLópez-Isac, E.
000086240 245__ $$aGWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways
000086240 260__ $$c2019
000086240 5060_ $$aAccess copy available to the general public$$fUnrestricted
000086240 5203_ $$aSystemic sclerosis (SSc) is an autoimmune disease that shows one of the highest mortality rates among rheumatic diseases. We perform a large genome-wide association study (GWAS), and meta-analysis with previous GWASs, in 26, 679 individuals and identify 27 independent genome-wide associated signals, including 13 new risk loci. The novel associations nearly double the number of genome-wide hits reported for SSc thus far. We define 95% credible sets of less than 5 likely causal variants in 12 loci. Additionally, we identify specific SSc subtype-associated signals. Functional analysis of high-priority variants shows the potential function of SSc signals, with the identification of 43 robust target genes through HiChIP. Our results point towards molecular pathways potentially involved in vasculopathy and fibrosis, two main hallmarks in SSc, and highlight the spectrum of critical cell types for the disease. This work supports a better understanding of the genetic basis of SSc and provides directions for future functional experiments.
000086240 536__ $$9info:eu-repo/grantAgreement/ES/ISCIII/RD16-0012-0013$$9info:eu-repo/grantAgreement/ES/MICINN/FJCI-2015-24028$$9info:eu-repo/grantAgreement/ES/MINECO/SAF2015-66761-P
000086240 540__ $$9info:eu-repo/semantics/openAccess$$aby$$uhttp://creativecommons.org/licenses/by/3.0/es/
000086240 590__ $$a12.121$$b2019
000086240 591__ $$aMULTIDISCIPLINARY SCIENCES$$b6 / 71 = 0.085$$c2019$$dQ1$$eT1
000086240 592__ $$a5.569$$b2019
000086240 593__ $$aBiochemistry, Genetics and Molecular Biology (miscellaneous)$$c2019$$dQ1
000086240 593__ $$aPhysics and Astronomy (miscellaneous)$$c2019$$dQ1
000086240 593__ $$aChemistry (miscellaneous)$$c2019$$dQ1
000086240 655_4 $$ainfo:eu-repo/semantics/article$$vinfo:eu-repo/semantics/publishedVersion
000086240 700__ $$aAcosta-Herrera, M.
000086240 700__ $$aKerick, M.
000086240 700__ $$aAssassi, S.
000086240 700__ $$aSatpathy, A.T.
000086240 700__ $$aGranja, J.
000086240 700__ $$aMumbach, M.R.
000086240 700__ $$aBeretta, L.
000086240 700__ $$aSimeón, C.P.
000086240 700__ $$aCarreira, P.
000086240 700__ $$aOrtego-Centeno, N.
000086240 700__ $$aCastellvi, I.
000086240 700__ $$aBossini-Castillo, L.
000086240 700__ $$aCarmona, F.D.
000086240 700__ $$aOrozco, G.
000086240 700__ $$aHunzelmann, N.
000086240 700__ $$aDistler, J.H.W.
000086240 700__ $$aFranke, A.
000086240 700__ $$aLunardi, C.
000086240 700__ $$aMoroncini, G.
000086240 700__ $$aGabrielli, A.
000086240 700__ $$ade Vries-Bouwstra, J.
000086240 700__ $$aWijmenga, C.
000086240 700__ $$aKoeleman, B.P.C.
000086240 700__ $$aNordin, A.
000086240 700__ $$aPadyukov, L.
000086240 700__ $$aHoffmann-Vold, A.-M.
000086240 700__ $$aLie, B.
000086240 700__ $$aRíos, R.
000086240 700__ $$aCallejas, J.L.
000086240 700__ $$aVargas-Hitos, J.A.
000086240 700__ $$aGarcía-Portales, R.
000086240 700__ $$aCamps, M.T.
000086240 700__ $$aFernández-Nebro, A.
000086240 700__ $$aGonzález-Escribano, M.F.
000086240 700__ $$aGarcía-Hernández, F.J.
000086240 700__ $$aCastillo, M.J.
000086240 700__ $$aAguirre, M.A.
000086240 700__ $$aGómez-Gracia, I.
000086240 700__ $$aFernández-Gutiérrez, B.
000086240 700__ $$aRodríguez-Rodríguez, L.
000086240 700__ $$aGarcía de la Peña, P.
000086240 700__ $$aVicente, E.
000086240 700__ $$aAndreu, J.L.
000086240 700__ $$aFernández de Castro, M.
000086240 700__ $$aLópez-Longo, F.J.
000086240 700__ $$aMartínez, L.
000086240 700__ $$aFonollosa, V.
000086240 700__ $$aGuillén, A.
000086240 700__ $$aEspinosa, G.
000086240 700__ $$aTolosa, C.
000086240 700__ $$aPros, A.
000086240 700__ $$aRodríguez-Carballeira, M.
000086240 700__ $$aNarváez, F.J.
000086240 700__ $$aRubio-Rivas, M.
000086240 700__ $$aOrtiz-Santamaría, V
000086240 700__ $$aMadroñero, A.B.
000086240 700__ $$aGonzález-Gay, M.A.
000086240 700__ $$aDíaz, B.
000086240 700__ $$aTrapiella, L.
000086240 700__ $$aSousa, A.
000086240 700__ $$aEgurbide, M.V.
000086240 700__ $$aFanlo-Mateo, P.
000086240 700__ $$0(orcid)0000-0002-9868-6498$$aSáez-Comet, L.$$uUniversidad de Zaragoza
000086240 700__ $$aDíaz, F.
000086240 700__ $$aHernández, V
000086240 700__ $$aBeltrán, E.
000086240 700__ $$aRomán-Ivorra, J.A.
000086240 700__ $$aGrau E.
000086240 700__ $$aAlegre-Sancho, J.J.
000086240 700__ $$aFreire, M.
000086240 700__ $$aBlanco-García, F.J.
000086240 700__ $$aOreiro, N.
000086240 700__ $$aWitte, T.
000086240 700__ $$aKreuter, A.
000086240 700__ $$aRiemekasten, G.
000086240 700__ $$aAiró P.
000086240 700__ $$aMagro, C.
000086240 700__ $$aVoskuyl, A.E.
000086240 700__ $$aVonk, M.C.
000086240 700__ $$aHesselstrand, R.
000086240 700__ $$aProudman S.
000086240 700__ $$aStevens, W.
000086240 700__ $$aNikpour, M.
000086240 700__ $$aZochling, J.
000086240 700__ $$aSahhar, J.
000086240 700__ $$aRoddy, J.
000086240 700__ $$aNash, P.
000086240 700__ $$aTymms, K.
000086240 700__ $$aRischmueller, M.
000086240 700__ $$aLester, S.
000086240 700__ $$aVyse, T.
000086240 700__ $$aHerrick, A.L.
000086240 700__ $$aWorthington, J.
000086240 700__ $$aDenton C.P.
000086240 700__ $$aAllanore, Y.
000086240 700__ $$aBrown, M.A.
000086240 700__ $$aRadstake, T.R.D.J.
000086240 700__ $$aFonseca, C.
000086240 700__ $$aChang H.Y.
000086240 700__ $$aMayes, M.D.
000086240 700__ $$aMartin, J.
000086240 700__ $$aEuropean Scleroderma Group
000086240 700__ $$aAustralian Scleroderma Interest Group (ASIG)
000086240 7102_ $$11007$$2610$$aUniversidad de Zaragoza$$bDpto. Medicina, Psiqu. y Derm.$$cArea Medicina
000086240 773__ $$g10, 1 (2019), 4955 [14 pp.]$$pNATURE COMMUNICATIONS$$tNature Communications$$x2041-1723
000086240 85641 $$uhttps://www.scopus.com/inward/record.uri?eid=2-s2.0-85074256049&doi=10.1038%2fs41467-019-12760-y&partnerID=40&md5=467fff8412491ef6eeedc9e0967fc9ff$$zTexto completo de la revista
000086240 8564_ $$s1199916$$uhttps://zaguan.unizar.es/record/86240/files/texto_completo.pdf$$yVersión publicada
000086240 8564_ $$s51039$$uhttps://zaguan.unizar.es/record/86240/files/texto_completo.jpg?subformat=icon$$xicon$$yVersión publicada
000086240 909CO $$ooai:zaguan.unizar.es:86240$$particulos$$pdriver
000086240 951__ $$a2020-07-16-09:41:07
000086240 980__ $$aARTICLE