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Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer

dc.contributor.authorFerreira, M. A.
dc.contributor.authorGamazon, E. R.
dc.contributor.authorAl-Ejeh, F.
dc.contributor.authorAittomäki, K.
dc.contributor.authorAndrulis, I. L.
dc.contributor.authorAnton-Culver, H.
dc.contributor.authorArason, A.
dc.contributor.authorArndt, V.
dc.contributor.authorAronson, K. J.
dc.contributor.authorArun, B. K.
dc.contributor.authorAsseryanis, E.
dc.contributor.authorAzzollini, J.
dc.contributor.authorBalmaña, J.
dc.contributor.authorBarnes, D. R.
dc.contributor.authorBarrowdale, D.
dc.contributor.authorBeckmann, M. W.
dc.contributor.authorBehrens, S.
dc.contributor.authorBenitez, J.
dc.contributor.authorBermisheva, M.
dc.contributor.authorBiałkowska, K.
dc.contributor.authorBlomqvist, C.
dc.contributor.authorBogdanova, N. V.
dc.contributor.authorBojesen, S. E.
dc.contributor.authorBolla, M. K.
dc.contributor.authorBorg, A.
dc.contributor.authorBrauch, H.
dc.contributor.authorBrenner, H.
dc.contributor.authorBroeks, A.
dc.contributor.authorBurwinkel, B.
dc.contributor.authorCaldés, T.
dc.contributor.authorCaligo, M. A.
dc.contributor.authorCampa, D.
dc.contributor.authorCampbell, I.
dc.contributor.authorCanzian, F.
dc.contributor.authorCarter, J.
dc.contributor.authorCarter, B. D.
dc.contributor.authorCastelao Fernández, José Esteban 
dc.contributor.authorChang-Claude, J.
dc.contributor.authorChanock, S. J.
dc.contributor.authorChristiansen, H.
dc.contributor.authorChung, W. K.
dc.contributor.authorClaes, K. B. M.
dc.contributor.authorClarke, C. L.
dc.contributor.authorCouch, F. J.
dc.contributor.authorCox, A.
dc.contributor.authorCross, S. S.
dc.contributor.authorCzene, K.
dc.contributor.authorDaly, M. B.
dc.contributor.authorde la Hoya, M.
dc.contributor.authorDennis, J.
dc.contributor.authorDevilee, P.
dc.contributor.authorDiez, O.
dc.contributor.authorDörk, T.
dc.contributor.authorDunning, A. M.
dc.contributor.authorDwek, M.
dc.contributor.authorEccles, D. M.
dc.contributor.authorEjlertsen, B.
dc.contributor.authorEllberg, C.
dc.contributor.authorEngel, C.
dc.contributor.authorEriksson, M.
dc.contributor.authorFasching, P. A.
dc.contributor.authorFletcher, O.
dc.contributor.authorFlyger, H.
dc.contributor.authorFriedman, E.
dc.contributor.authorFrost, D.
dc.contributor.authorGabrielson, M.
dc.contributor.authorGago Dominguez, Manuela
dc.contributor.authorGanz, P. A.
dc.contributor.authorGapstur, S. M.
dc.contributor.authorGarber, J.
dc.contributor.authorGarcía-Closas, M.
dc.contributor.authorGarcía-Sáenz, J. A.
dc.contributor.authorGaudet, M. M.
dc.contributor.authorGiles, G. G.
dc.contributor.authorGlendon, G.
dc.contributor.authorGodwin, A. K.
dc.contributor.authorGoldberg, M. S.
dc.contributor.authorGoldgar, D. E.
dc.contributor.authorGonzález-Neira, A.
dc.contributor.authorGreene, M. H.
dc.contributor.authorGronwald, J.
dc.contributor.authorGuénel, P.
dc.contributor.authorHaiman, C. A.
dc.contributor.authorHall, P.
dc.contributor.authorHamann, U.
dc.contributor.authorHe, W.
dc.contributor.authorHeyworth, J.
dc.contributor.authorHogervorst, F. B. L.
dc.contributor.authorHollestelle, A.
dc.contributor.authorHoover, R. N.
dc.contributor.authorHopper, J. L.
dc.contributor.authorHulick, P. J.
dc.contributor.authorHumphreys, K.
dc.contributor.authorImyanitov, E. N.
dc.contributor.authorIsaacs, C.
dc.contributor.authorJakimovska, M.
dc.contributor.authorJakubowska, A.
dc.contributor.authorJames, P. A.
dc.contributor.authorJanavicius, R.
dc.contributor.authorJankowitz, R. C.
dc.contributor.authorJohn, E. M.
dc.contributor.authorJohnson, N.
dc.contributor.authorJoseph, V.
dc.contributor.authorKarlan, B. Y.
dc.contributor.authorKhusnutdinova, E.
dc.contributor.authorKiiski, J. I.
dc.contributor.authorKo, Y. D.
dc.contributor.authorJones, M. E.
dc.contributor.authorKonstantopoulou, I.
dc.contributor.authorKristensen, V. N.
dc.contributor.authorLaitman, Y.
dc.contributor.authorLambrechts, D.
dc.contributor.authorLazaro, C.
dc.contributor.authorLeslie, G.
dc.contributor.authorLester, J.
dc.contributor.authorLesueur, F.
dc.contributor.authorLindström, S.
dc.contributor.authorLong, J.
dc.contributor.authorLoud, J. T.
dc.contributor.authorLubiński, J.
dc.contributor.authorMakalic, E.
dc.contributor.authorMannermaa, A.
dc.contributor.authorManoochehri, M.
dc.contributor.authorMargolin, S.
dc.contributor.authorMaurer, T.
dc.contributor.authorMavroudis, D.
dc.contributor.authorMcGuffog, L.
dc.contributor.authorMeindl, A.
dc.contributor.authorMenon, U.
dc.contributor.authorMichailidou, K.
dc.contributor.authorMiller, A.
dc.contributor.authorMontagna, M.
dc.contributor.authorMoreno, F.
dc.contributor.authorMoserle, L.
dc.contributor.authorMulligan, A. M.
dc.contributor.authorNathanson, K. L.
dc.contributor.authorNeuhausen, S. L.
dc.contributor.authorNevanlinna, H.
dc.contributor.authorNevelsteen, I.
dc.contributor.authorNielsen, F. C.
dc.contributor.authorNikitina-Zake, L.
dc.contributor.authorNussbaum, R. L.
dc.contributor.authorOffit, K.
dc.contributor.authorOlah, E.
dc.contributor.authorOlopade, O. I.
dc.contributor.authorOlsson, H.
dc.contributor.authorOsorio, A.
dc.contributor.authorPapp, J.
dc.contributor.authorPark-Simon, T. W.
dc.contributor.authorParsons, M. T.
dc.contributor.authorPedersen, I. S.
dc.contributor.authorPeixoto, A.
dc.contributor.authorPeterlongo, P.
dc.contributor.authorPharoah, P. D. P.
dc.contributor.authorPlaseska-Karanfilska, D.
dc.contributor.authorPoppe, B.
dc.contributor.authorPresneau, N.
dc.contributor.authorRadice, P.
dc.contributor.authorRantala, J.
dc.contributor.authorRennert, G.
dc.contributor.authorRisch, H. A.
dc.contributor.authorSaloustros, E.
dc.contributor.authorSanden, K.
dc.contributor.authorSawyer, E. J.
dc.contributor.authorSchmidt, M. K.
dc.contributor.authorSchmutzler, R. K.
dc.contributor.authorSharma, P.
dc.contributor.authorShu, X. O.
dc.contributor.authorSimard, J.
dc.contributor.authorSinger, C. F.
dc.contributor.authorSoucy, P.
dc.contributor.authorSouthey, M. C.
dc.contributor.authorSpinelli, J. J.
dc.contributor.authorSpurdle, A. B.
dc.contributor.authorStone, J.
dc.contributor.authorSwerdlow, A. J.
dc.contributor.authorTapper, W. J.
dc.contributor.authorTaylor, J. A.
dc.contributor.authorTeixeira, M. R.
dc.contributor.authorTerry, M. B.
dc.contributor.authorTeulé, A.
dc.contributor.authorThomassen, M.
dc.contributor.authorThöne, K.
dc.contributor.authorThull, D. L.
dc.contributor.authorTischkowitz, M.
dc.contributor.authorToland, A. E.
dc.contributor.authorTorres, D.
dc.contributor.authorTruong, T.
dc.contributor.authorTung, N.
dc.contributor.authorVachon, C. M.
dc.contributor.authorvan Asperen, C. J.
dc.contributor.authorvan den Ouweland, A. M. W.
dc.contributor.authorvan Rensburg, E. J.
dc.contributor.authorVega Gliemmo, Ana
dc.contributor.authorViel, A.
dc.contributor.authorWang, Q.
dc.contributor.authorWappenschmidt, B.
dc.contributor.authorWeitzel, J. N.
dc.contributor.authorWendt, C.
dc.contributor.authorWinqvist, R.
dc.contributor.authorYang, X. R.
dc.contributor.authorYannoukakos, D.
dc.contributor.authorZiogas, A.
dc.contributor.authorKraft, P.
dc.contributor.authorAntoniou, A. C.
dc.contributor.authorZheng, W.
dc.contributor.authorEaston, D. F.
dc.contributor.authorMilne, R. L.
dc.contributor.authorBeesley, J.
dc.contributor.authorChenevix-Trench, G.
dc.contributor.authorCollaborators, EMBRACE
dc.contributor.authorCollaborators, GC-HBOC Study
dc.contributor.authorCollaborators, GEMO Study
dc.contributor.authorInvestigators, ABCTB
dc.contributor.authorInvestigators, HEBON
dc.contributor.authorInvestigators, BCFR
dc.date.accessioned2021-10-04T09:40:17Z
dc.date.available2021-10-04T09:40:17Z
dc.date.issued2019
dc.identifier.issn2041-1723
dc.identifier.otherhttps://www.ncbi.nlm.nih.gov/pubmed/30988301es
dc.identifier.urihttp://hdl.handle.net/20.500.11940/15437
dc.description.abstractGenome-wide association studies (GWAS) have identified more than 170 breast cancer susceptibility loci. Here we hypothesize that some risk-associated variants might act in non-breast tissues, specifically adipose tissue and immune cells from blood and spleen. Using expression quantitative trait loci (eQTL) reported in these tissues, we identify 26 previously unreported, likely target genes of overall breast cancer risk variants, and 17 for estrogen receptor (ER)-negative breast cancer, several with a known immune function. We determine the directional effect of gene expression on disease risk measured based on single and multiple eQTL. In addition, using a gene-based test of association that considers eQTL from multiple tissues, we identify seven (and four) regions with variants associated with overall (and ER-negative) breast cancer risk, which were not reported in previous GWAS. Further investigation of the function of the implicated genes in breast and immune cells may provide insights into the etiology of breast cancer.en
dc.language.isoeng
dc.rightsAtribución 4.0 Internacional
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.subject.meshHumans*
dc.subject.meshQuantitative Trait Loci*
dc.subject.meshGenome-Wide Association Study*
dc.subject.meshGene Expression Profiling*
dc.titleGenome-wide association and transcriptome studies identify target genes and risk loci for breast canceres
dc.typeArtigoes
dc.contributor.authorcorpEMBRACE Collaborators
dc.contributor.authorcorpGC-HBOC Study Collaborators
dc.contributor.authorcorpGEMO Study Collaborators
dc.contributor.authorcorpABCTB Investigators
dc.contributor.authorcorpHEBON Investigators
dc.contributor.authorcorpBCFR Investigators
dc.authorsophosFerreira, M. A.
dc.authorsophosGamazon, E. R.
dc.authorsophosAl-Ejeh, F.
dc.authorsophosAittomäki, K.
dc.authorsophosAndrulis, I. L.
dc.authorsophosAnton-Culver, H.
dc.authorsophosArason, A.
dc.authorsophosArndt, V.
dc.authorsophosAronson, K. J.
dc.authorsophosArun, B. K.
dc.authorsophosAsseryanis, E.
dc.authorsophosAzzollini, J.
dc.authorsophosBalmaña, J.
dc.authorsophosBarnes, D. R.
dc.authorsophosBarrowdale, D.
dc.authorsophosBeckmann, M. W.
dc.authorsophosBehrens, S.
dc.authorsophosBenitez, J.
dc.authorsophosBermisheva, M.
dc.authorsophosBiałkowska, K.
dc.authorsophosBlomqvist, C.
dc.authorsophosBogdanova, N. V.
dc.authorsophosBojesen, S. E.
dc.authorsophosBolla, M. K.
dc.authorsophosBorg, A.
dc.authorsophosBrauch, H.
dc.authorsophosBrenner, H.
dc.authorsophosBroeks, A.
dc.authorsophosBurwinkel, B.
dc.authorsophosCaldés, T.
dc.authorsophosCaligo, M. A.
dc.authorsophosCampa, D.
dc.authorsophosCampbell, I.
dc.authorsophosCanzian, F.
dc.authorsophosCarter, J.
dc.authorsophosCarter, B. D.
dc.authorsophosCastelao, J. E.
dc.authorsophosChang-Claude, J.
dc.authorsophosChanock, S. J.
dc.authorsophosChristiansen, H.
dc.authorsophosChung, W. K.
dc.authorsophosClaes, K. B. M.
dc.authorsophosClarke, C. L.
dc.authorsophosCouch, F. J.
dc.authorsophosCox, A.
dc.authorsophosCross, S. S.
dc.authorsophosCzene, K.
dc.authorsophosDaly, M. B.
dc.authorsophosde la Hoya, M.
dc.authorsophosDennis, J.
dc.authorsophosDevilee, P.
dc.authorsophosDiez, O.
dc.authorsophosDörk, T.
dc.authorsophosDunning, A. M.
dc.authorsophosDwek, M.
dc.authorsophosEccles, D. M.
dc.authorsophosEjlertsen, B.
dc.authorsophosEllberg, C.
dc.authorsophosEngel, C.
dc.authorsophosEriksson, M.
dc.authorsophosFasching, P. A.
dc.authorsophosFletcher, O.
dc.authorsophosFlyger, H.
dc.authorsophosFriedman, E.
dc.authorsophosFrost, D.
dc.authorsophosGabrielson, M.
dc.authorsophosGago-Dominguez, M.
dc.authorsophosGanz, P. A.
dc.authorsophosGapstur, S. M.
dc.authorsophosGarber, J.
dc.authorsophosGarcía-Closas, M.
dc.authorsophosGarcía-Sáenz, J. A.
dc.authorsophosGaudet, M. M.
dc.authorsophosGiles, G. G.
dc.authorsophosGlendon, G.
dc.authorsophosGodwin, A. K.
dc.authorsophosGoldberg, M. S.
dc.authorsophosGoldgar, D. E.
dc.authorsophosGonzález-Neira, A.
dc.authorsophosGreene, M. H.
dc.authorsophosGronwald, J.
dc.authorsophosGuénel, P.
dc.authorsophosHaiman, C. A.
dc.authorsophosHall, P.
dc.authorsophosHamann, U.
dc.authorsophosHe, W.
dc.authorsophosHeyworth, J.
dc.authorsophosHogervorst, F. B. L.
dc.authorsophosHollestelle, A.
dc.authorsophosHoover, R. N.
dc.authorsophosHopper, J. L.
dc.authorsophosHulick, P. J.
dc.authorsophosHumphreys, K.
dc.authorsophosImyanitov, E. N.
dc.authorsophosIsaacs, C.
dc.authorsophosJakimovska, M.
dc.authorsophosJakubowska, A.
dc.authorsophosJames, P. A.
dc.authorsophosJanavicius, R.
dc.authorsophosJankowitz, R. C.
dc.authorsophosJohn, E. M.
dc.authorsophosJohnson, N.
dc.authorsophosJoseph, V.
dc.authorsophosKarlan, B. Y.
dc.authorsophosKhusnutdinova, E.
dc.authorsophosKiiski, J. I.
dc.authorsophosKo, Y. D.
dc.authorsophosJones, M. E.
dc.authorsophosKonstantopoulou, I.
dc.authorsophosKristensen, V. N.
dc.authorsophosLaitman, Y.
dc.authorsophosLambrechts, D.
dc.authorsophosLazaro, C.
dc.authorsophosLeslie, G.
dc.authorsophosLester, J.
dc.authorsophosLesueur, F.
dc.authorsophosLindström, S.
dc.authorsophosLong, J.
dc.authorsophosLoud, J. T.
dc.authorsophosLubiński, J.
dc.authorsophosMakalic, E.
dc.authorsophosMannermaa, A.
dc.authorsophosManoochehri, M.
dc.authorsophosMargolin, S.
dc.authorsophosMaurer, T.
dc.authorsophosMavroudis, D.
dc.authorsophosMcGuffog, L.
dc.authorsophosMeindl, A.
dc.authorsophosMenon, U.
dc.authorsophosMichailidou, K.
dc.authorsophosMiller, A.
dc.authorsophosMontagna, M.
dc.authorsophosMoreno, F.
dc.authorsophosMoserle, L.
dc.authorsophosMulligan, A. M.
dc.authorsophosNathanson, K. L.
dc.authorsophosNeuhausen, S. L.
dc.authorsophosNevanlinna, H.
dc.authorsophosNevelsteen, I.
dc.authorsophosNielsen, F. C.
dc.authorsophosNikitina-Zake, L.
dc.authorsophosNussbaum, R. L.
dc.authorsophosOffit, K.
dc.authorsophosOlah, E.
dc.authorsophosOlopade, O. I.
dc.authorsophosOlsson, H.
dc.authorsophosOsorio, A.
dc.authorsophosPapp, J.
dc.authorsophosPark-Simon, T. W.
dc.authorsophosParsons, M. T.
dc.authorsophosPedersen, I. S.
dc.authorsophosPeixoto, A.
dc.authorsophosPeterlongo, P.
dc.authorsophosPharoah, P. D. P.
dc.authorsophosPlaseska-Karanfilska, D.
dc.authorsophosPoppe, B.
dc.authorsophosPresneau, N.
dc.authorsophosRadice, P.
dc.authorsophosRantala, J.
dc.authorsophosRennert, G.
dc.authorsophosRisch, H. A.
dc.authorsophosSaloustros, E.
dc.authorsophosSanden, K.
dc.authorsophosSawyer, E. J.
dc.authorsophosSchmidt, M. K.
dc.authorsophosSchmutzler, R. K.
dc.authorsophosSharma, P.
dc.authorsophosShu, X. O.
dc.authorsophosSimard, J.
dc.authorsophosSinger, C. F.
dc.authorsophosSoucy, P.
dc.authorsophosSouthey, M. C.
dc.authorsophosSpinelli, J. J.
dc.authorsophosSpurdle, A. B.
dc.authorsophosStone, J.
dc.authorsophosSwerdlow, A. J.
dc.authorsophosTapper, W. J.
dc.authorsophosTaylor, J. A.
dc.authorsophosTeixeira, M. R.
dc.authorsophosTerry, M. B.
dc.authorsophosTeulé, A.
dc.authorsophosThomassen, M.
dc.authorsophosThöne, K.
dc.authorsophosThull, D. L.
dc.authorsophosTischkowitz, M.
dc.authorsophosToland, A. E.
dc.authorsophosTorres, D.
dc.authorsophosTruong, T.
dc.authorsophosTung, N.
dc.authorsophosVachon, C. M.
dc.authorsophosvan Asperen, C. J.
dc.authorsophosvan den Ouweland, A. M. W.
dc.authorsophosvan Rensburg, E. J.
dc.authorsophosVega, A.
dc.authorsophosViel, A.
dc.authorsophosWang, Q.
dc.authorsophosWappenschmidt, B.
dc.authorsophosWeitzel, J. N.
dc.authorsophosWendt, C.
dc.authorsophosWinqvist, R.
dc.authorsophosYang, X. R.
dc.authorsophosYannoukakos, D.
dc.authorsophosZiogas, A.
dc.authorsophosKraft, P.
dc.authorsophosAntoniou, A. C.
dc.authorsophosZheng, W.
dc.authorsophosEaston, D. F.
dc.authorsophosMilne, R. L.
dc.authorsophosBeesley, J.
dc.authorsophosChenevix-Trench, G.
dc.identifier.doi10.1038/s41467-018-08053-5
dc.identifier.pmid30988301
dc.identifier.sophos30728
dc.issue.number1es
dc.journal.titleNature Communicationses
dc.organizationServizo Galego de Saúde::Dirección Xeral de Asistencia Sanitaria::Fundación Pública Galega de Medicina Xenómica
dc.organizationServizo Galego de Saúde::Estrutura de Xestión Integrada (EOXI)::Instituto de Investigación Biomédica Ourense-Pontevedra-Vigo (IBI)
dc.organizationServizo Galego de Saúde::Estrutura de Xestión Integrada (EOXI)::Fundación Biomédica Galicia Sur
dc.organizationServizo Galego de Saúde::Estrutura de Xestión Integrada (EOXI)::Instituto de Investigación Sanitaria de Santiago de Compostela (IDIS)
dc.organizationServizo Galego de Saúde::Estrutura de Xestión Integrada (EOXI)::EOXI de Santiago de Compostela - Complexo Hospitalario Universitario de Santiago de Compostela::Xenética
dc.page.initial1741es
dc.relation.publisherversionhttp://diposit.ub.edu/dspace/bitstream/2445/171568/1/FerreiraMA.pdf
dc.rights.accessRightsopenAccess
dc.subject.decshumanos*
dc.subject.decsestudio de asociación genómica completa*
dc.subject.decsperfiles de expresión génica*
dc.subject.decssitios de rasgos cuantitativos*
dc.subject.keywordFPGMX
dc.subject.keywordISGS
dc.subject.keywordIDIS
dc.subject.keywordCHUS
dc.typefidesArtículo Científico (incluye Original, Original breve, Revisión Sistemática y Meta-análisis)
dc.typesophosArtículo Original
dc.volume.number10es


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Nat Commun . 2019 Apr 15;10(1):1741. doi: 10.1038/s41467-018-08053-5

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