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Transancestral mapping and genetic load in systemic lupus erythematosus

dc.contributor.authorLangefeld, C.
dc.contributor.authorAinsworth, H.
dc.contributor.authorCunninghame Graham, D.
dc.contributor.authorKelly, J.
dc.contributor.authorComeau, M.
dc.contributor.authorMarion, M.
dc.contributor.authorHoward, T.
dc.contributor.authorRamos, P.
dc.contributor.authorCroker, J.
dc.contributor.authorMorris, D.
dc.contributor.authorSandling, J.
dc.contributor.authorAlmlöf, J.
dc.contributor.authorAcevedo-Vásquez, E.
dc.contributor.authorAlarcón, G.
dc.contributor.authorBabini, A.
dc.contributor.authorBaca, V.
dc.contributor.authorBengtsson, A.
dc.contributor.authorBerbotto, G.
dc.contributor.authorBijl, M.
dc.contributor.authorBrown, E.
dc.contributor.authorBrunner, H.
dc.contributor.authorCardiel, M.
dc.contributor.authorCatoggio, L.
dc.contributor.authorCervera, R.
dc.contributor.authorCucho-Venegas, J.
dc.contributor.authorDahlqvist, S.
dc.contributor.authorD'Alfonso, S.
dc.contributor.authorDa Silva, B.
dc.contributor.authorde la Rúa Figueroa, I.
dc.contributor.authorDoria, A.
dc.contributor.authorEdberg, J.
dc.contributor.authorEndreffy, E.
dc.contributor.authorEsquivel-Valerio, J.
dc.contributor.authorFortin, P.
dc.contributor.authorFreedman, B.
dc.contributor.authorFrostegård, J.
dc.contributor.authorGarcía, M.
dc.contributor.authorde la Torre, I.
dc.contributor.authorGilkeson, G.
dc.contributor.authorGladman, D.
dc.contributor.authorGunnarsson, I.
dc.contributor.authorGuthridge, J.
dc.contributor.authorHuggins, J.
dc.contributor.authorJames, J.
dc.contributor.authorKallenberg, C.
dc.contributor.authorKamen, D.
dc.contributor.authorKarp, D.
dc.contributor.authorKaufman, K.
dc.contributor.authorKottyan, L.
dc.contributor.authorKovács, L.
dc.contributor.authorLaustrup, H.
dc.contributor.authorLauwerys, B.
dc.contributor.authorLi, Q.
dc.contributor.authorMaradiaga-Ceceña, M.
dc.contributor.authorMartín, J.
dc.contributor.authorMcCune, J.
dc.contributor.authorMcWilliams, D.
dc.contributor.authorMerrill, J.
dc.contributor.authorMiranda, P.
dc.contributor.authorMoctezuma, J.
dc.contributor.authorNath, S.
dc.contributor.authorNiewold, T.
dc.contributor.authorOrozco, L.
dc.contributor.authorOrtego-Centeno, N.
dc.contributor.authorPetri, M.
dc.contributor.authorPineau, C.
dc.contributor.authorPons-Estel, B.
dc.contributor.authorPope, J.
dc.contributor.authorRaj, P.
dc.contributor.authorRamsey-Goldman, R.
dc.contributor.authorReveille, J.
dc.contributor.authorRussell, L.
dc.contributor.authorSabio, J.
dc.contributor.authorAguilar-Salinas, C.
dc.contributor.authorScherbarth, H.
dc.contributor.authorScorza, R.
dc.contributor.authorSeldin, M.
dc.contributor.authorSjöwall, C.
dc.contributor.authorSvenungsson, E.
dc.contributor.authorThompson, S.
dc.contributor.authorToloza, S.
dc.contributor.authorTruedsson, L.
dc.contributor.authorTusié-Luna, T.
dc.contributor.authorVasconcelos, C.
dc.contributor.authorVilá, L.
dc.contributor.authorWallace, D.
dc.contributor.authorWeisman, M.
dc.contributor.authorWither, J.
dc.contributor.authorBhangale, T.
dc.contributor.authorOksenberg, J.
dc.contributor.authorRioux, J.
dc.contributor.authorGregersen, P.
dc.contributor.authorSyvänen, A.
dc.contributor.authorRönnblom, L.
dc.contributor.authorCriswell, L.
dc.contributor.authorJacob, C.
dc.contributor.authorSivils, K.
dc.contributor.authorTsao, B.
dc.contributor.authorSchanberg, L.
dc.contributor.authorBehrens, T.
dc.contributor.authorSilverman, E.
dc.contributor.authorAlarcón-Riquelme, M.
dc.contributor.authorKimberly, R.
dc.contributor.authorHarley, J.
dc.contributor.authorWakeland, E.
dc.contributor.authorGraham, R.
dc.contributor.authorGaffney, P.
dc.contributor.authorVyse, T.
dc.date.accessioned2018-08-28T10:52:14Z
dc.date.available2018-08-28T10:52:14Z
dc.date.issued2017-07
dc.description.abstractSystemic lupus erythematosus (SLE) is an autoimmune disease with marked gender and ethnic disparities. We report a large transancestral association study of SLE using Immunochip genotype data from 27,574 individuals of European (EA), African (AA) and Hispanic Amerindian (HA) ancestry. We identify 58 distinct non-HLA regions in EA, 9 in AA and 16 in HA (∼50% of these regions have multiple independent associations); these include 24 novel SLE regions (P<5 × 10-8), refined association signals in established regions, extended associations to additional ancestries, and a disentangled complex HLA multigenic effect. The risk allele count (genetic load) exhibits an accelerating pattern of SLE risk, leading us to posit a cumulative hit hypothesis for autoimmune disease. Comparing results across the three ancestries identifies both ancestry-dependent and ancestry-independent contributions to SLE risk. Our results are consistent with the unique and complex histories of the populations sampled, and collectively help clarify the genetic architecture and ethnic disparities in SLE.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationNat Commun. 2017 Jul 17;8:16021pt_PT
dc.identifier.doi10.1038/ncomms16021pt_PT
dc.identifier.issn2041-1723
dc.identifier.urihttp://hdl.handle.net/10400.16/2231
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherNature Publishing Grouppt_PT
dc.relation.publisherversionhttps://www.nature.com/articles/ncomms16021.pdfpt_PT
dc.titleTransancestral mapping and genetic load in systemic lupus erythematosuspt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.conferencePlaceEnglandpt_PT
oaire.citation.startPage16021pt_PT
oaire.citation.titleNature Communicationspt_PT
oaire.citation.volume8pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT

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