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

dc.date.accessioned2020-06-16T21:27:44Z
dc.date.available2020-06-16T21:27:44Z
dc.date.created2019-09-21T19:34:56Z
dc.date.issued2019
dc.identifier.citationFerreira, Manuel A. Gamazon, Eric R. Al-Ejeh, Fares Aittomäki, Kristiina Andrulis, Irene L. Anton-Culver, Hoda Arason, Adalgeir Arndt, Volker Aronson, Kristian J. Arun, Banu K. Asseryanis, Ella Azzollini, Jacopo Balmaña, Judith Barnes, Daniel R. Barrowdale, Daniel Beckmann, Matthias W. Behrens, Sabine Benitez, Javier Bermisheva, Marina Białkowska, Katarzyna Blomqvist, Carl Bogdanova, Natalia V. Bojesen, Stig E. Bolla, Manjeet K. Borg, Åke Brauch, Hiltrud Brenner, Hermann Broeks, Annegien Burwinkel, Barbara Caldés, Trinidad Caligo, Maria A. Campa, Daniele Campbell, Ian Canzian, Federico Carter, Jonathan Carter, Brian D. Castelao, Jose E. Chang-Claude, Jenny Chanock, Stephen J. Christiansen, Hans Chung, Wendy K. Claes, Kathleen B.M. Clarke, Christine L. Couch, Fergus J. Cox, Angela Cross, Simon S. Czene, Kamila Daly, Mary B. de la Hoya, Miguel Dennis, Joe Devilee, Peter Diez, Orland Dörk, Thilo Dunning, Alison M. Dwek, Miriam Eccles, Diana M. Ejlertsen, Bent Ellberg, Carolina Engel, Christoph Eriksson, Mikael Fasching, Peter A. Fletcher, Olivia Flyger, Henrik Friedman, Eitan Frost, Debra Gabrielson, Marike Gago-Dominguez, Manuela Ganz, Patricia A. Gapstur, Susan M. Garber, Judy García-Closas, Montserrat García-Sáenz, José A. Gaudet, Mia M. Giles, Graham G. Glendon, Gord Godwin, Andrew K. Goldberg, Mark S. Goldgar, David E. González-Neira, Anna Greene, Mark H. Gronwald, Jacek Guénel, Pascal Haiman, Christopher A. Hall, Per Hamann, Ute He, Wei Heyworth, Jane Hogervorst, Frans B.L. Hollestelle, Antoinette Hoover, Robert N. Hopper, John L. Hulick, Peter J. Humphreys, Keith Imyanitov, Evgeny N. Isaacs, Claudine Jakimovska, Milena Jakubowska, Anna James, Paul A. Janavicius, Ramunas Jankowitz, Rachel C. John, Esther M. Johnson, Nichola Joseph, Vijai Karlan, Beth Y. Khusnutdinova, Elza Kiiski, Johanna I. Ko, Yon-Dschun Jones, Michael E. Konstantopoulou, Irene Kristensen, Vessela N. Laitman, Yael Lambrechts, Diether Lazaro, Conxi Leslie, Goska Lester, Jenny Lesueur, Fabienne Lindström, Sara Long, Jirong Loud, Jennifer T. Lubiński, Jan Makalic, Enes Mannermaa, Arto Manoochehri, Mehdi Margolin, Sara Maurer, Tabea Mavroudis, Dimitrios McGuffog, Lesley Meindl, Alfons Menon, Usha Michailidou, Kyriaki Miller, Austin Montagna, Marco Moreno, Fernando Moserle, Lidia Mulligan, Anna Marie Nathanson, Katherine L. Neuhausen, Susan L. Nevanlinna, Heli Nevelsteen, Ines Nielsen, Finn C. Nikitina-Zake, Liene Nussbaum, Robert L. Offit, Kenneth Olah, Edith Olopade, Olufunmilayo I. Olsson, Håkan Osorio, Ana Papp, Janos Park-Simon, Tjoung-Won Parsons, Michael T. Pedersen, Inge Søkilde Peixoto, Ana Peterlongo, Paolo Pharoah, Paul D.P. Plaseska-Karanfilska, Dijana Poppe, Bruce Presneau, Nadege Radice, Paolo Rantala, Johanna Rennert, Gad Risch, Harvey A. Saloustros, Emmanouil Sanden, Kristin Sawyer, Elinor J. Schmidt, Marjanka K. Schmutzler, Rita K. Sharma, Priyanka Shu, Xiao-Ou Simard, Jacques Singer, Christian F. Soucy, Penny Southey, Melissa C. Spinelli, John J. Spurdle, Amanda B. Stone, Jennifer Swerdlow, Anthony J. Tapper, William J. Taylor, Jack A. Teixeira, Manuel R. Terry, Mary Beth Teulé, Alex Thomassen, Mads Thöne, Kathrin Thull, Darcy L. Tischkowitz, Marc Toland, Amanda E. Torres, Diana Truong, Thérèse Tung, Nadine Vachon, Celine M. van Asperen, Christi J. van den Ouweland, Ans M.W. van Rensburg, Elizabeth J. Vega, Ana Viel, Alessandra Wang, Qin Wappenschmidt, Barbara Weitzel, Jeffrey N. Wendt, Camilla Winqvist, Robert Yang, Xiaohong R. Yannoukakos, Drakoulis Ziogas, Argyrios Kraft, Peter Antoniou, Antoniou C. Zheng, Wei Easton, Douglas F. Milne, Roger L. Beesley, Jonathan Chenevix-Trench, Georgia . Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer. Nature Communications. 2019, 10:1741, 1-18
dc.identifier.urihttp://hdl.handle.net/10852/77007
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.
dc.languageEN
dc.rightsAttribution 4.0 International
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/
dc.titleGenome-wide association and transcriptome studies identify target genes and risk loci for breast cancer
dc.typeJournal article
dc.creator.authorFerreira, Manuel A.
dc.creator.authorGamazon, Eric R.
dc.creator.authorAl-Ejeh, Fares
dc.creator.authorAittomäki, Kristiina
dc.creator.authorAndrulis, Irene L.
dc.creator.authorAnton-Culver, Hoda
dc.creator.authorArason, Adalgeir
dc.creator.authorArndt, Volker
dc.creator.authorAronson, Kristian J.
dc.creator.authorArun, Banu K.
dc.creator.authorAsseryanis, Ella
dc.creator.authorAzzollini, Jacopo
dc.creator.authorBalmaña, Judith
dc.creator.authorBarnes, Daniel R.
dc.creator.authorBarrowdale, Daniel
dc.creator.authorBeckmann, Matthias W.
dc.creator.authorBehrens, Sabine
dc.creator.authorBenitez, Javier
dc.creator.authorBermisheva, Marina
dc.creator.authorBiałkowska, Katarzyna
dc.creator.authorBlomqvist, Carl
dc.creator.authorBogdanova, Natalia V.
dc.creator.authorBojesen, Stig E.
dc.creator.authorBolla, Manjeet K.
dc.creator.authorBorg, Åke
dc.creator.authorBrauch, Hiltrud
dc.creator.authorBrenner, Hermann
dc.creator.authorBroeks, Annegien
dc.creator.authorBurwinkel, Barbara
dc.creator.authorCaldés, Trinidad
dc.creator.authorCaligo, Maria A.
dc.creator.authorCampa, Daniele
dc.creator.authorCampbell, Ian
dc.creator.authorCanzian, Federico
dc.creator.authorCarter, Jonathan
dc.creator.authorCarter, Brian D.
dc.creator.authorCastelao, Jose E.
dc.creator.authorChang-Claude, Jenny
dc.creator.authorChanock, Stephen J.
dc.creator.authorChristiansen, Hans
dc.creator.authorChung, Wendy K.
dc.creator.authorClaes, Kathleen B.M.
dc.creator.authorClarke, Christine L.
dc.creator.authorCouch, Fergus J.
dc.creator.authorCox, Angela
dc.creator.authorCross, Simon S.
dc.creator.authorCzene, Kamila
dc.creator.authorDaly, Mary B.
dc.creator.authorde la Hoya, Miguel
dc.creator.authorDennis, Joe
dc.creator.authorDevilee, Peter
dc.creator.authorDiez, Orland
dc.creator.authorDörk, Thilo
dc.creator.authorDunning, Alison M.
dc.creator.authorDwek, Miriam
dc.creator.authorEccles, Diana M.
dc.creator.authorEjlertsen, Bent
dc.creator.authorEllberg, Carolina
dc.creator.authorEngel, Christoph
dc.creator.authorEriksson, Mikael
dc.creator.authorFasching, Peter A.
dc.creator.authorFletcher, Olivia
dc.creator.authorFlyger, Henrik
dc.creator.authorFriedman, Eitan
dc.creator.authorFrost, Debra
dc.creator.authorGabrielson, Marike
dc.creator.authorGago-Dominguez, Manuela
dc.creator.authorGanz, Patricia A.
dc.creator.authorGapstur, Susan M.
dc.creator.authorGarber, Judy
dc.creator.authorGarcía-Closas, Montserrat
dc.creator.authorGarcía-Sáenz, José A.
dc.creator.authorGaudet, Mia M.
dc.creator.authorGiles, Graham G.
dc.creator.authorGlendon, Gord
dc.creator.authorGodwin, Andrew K.
dc.creator.authorGoldberg, Mark S.
dc.creator.authorGoldgar, David E.
dc.creator.authorGonzález-Neira, Anna
dc.creator.authorGreene, Mark H.
dc.creator.authorGronwald, Jacek
dc.creator.authorGuénel, Pascal
dc.creator.authorHaiman, Christopher A.
dc.creator.authorHall, Per
dc.creator.authorHamann, Ute
dc.creator.authorHe, Wei
dc.creator.authorHeyworth, Jane
dc.creator.authorHogervorst, Frans B.L.
dc.creator.authorHollestelle, Antoinette
dc.creator.authorHoover, Robert N.
dc.creator.authorHopper, John L.
dc.creator.authorHulick, Peter J.
dc.creator.authorHumphreys, Keith
dc.creator.authorImyanitov, Evgeny N.
dc.creator.authorIsaacs, Claudine
dc.creator.authorJakimovska, Milena
dc.creator.authorJakubowska, Anna
dc.creator.authorJames, Paul A.
dc.creator.authorJanavicius, Ramunas
dc.creator.authorJankowitz, Rachel C.
dc.creator.authorJohn, Esther M.
dc.creator.authorJohnson, Nichola
dc.creator.authorJoseph, Vijai
dc.creator.authorKarlan, Beth Y.
dc.creator.authorKhusnutdinova, Elza
dc.creator.authorKiiski, Johanna I.
dc.creator.authorKo, Yon-Dschun
dc.creator.authorJones, Michael E.
dc.creator.authorKonstantopoulou, Irene
dc.creator.authorKristensen, Vessela N.
dc.creator.authorLaitman, Yael
dc.creator.authorLambrechts, Diether
dc.creator.authorLazaro, Conxi
dc.creator.authorLeslie, Goska
dc.creator.authorLester, Jenny
dc.creator.authorLesueur, Fabienne
dc.creator.authorLindström, Sara
dc.creator.authorLong, Jirong
dc.creator.authorLoud, Jennifer T.
dc.creator.authorLubiński, Jan
dc.creator.authorMakalic, Enes
dc.creator.authorMannermaa, Arto
dc.creator.authorManoochehri, Mehdi
dc.creator.authorMargolin, Sara
dc.creator.authorMaurer, Tabea
dc.creator.authorMavroudis, Dimitrios
dc.creator.authorMcGuffog, Lesley
dc.creator.authorMeindl, Alfons
dc.creator.authorMenon, Usha
dc.creator.authorMichailidou, Kyriaki
dc.creator.authorMiller, Austin
dc.creator.authorMontagna, Marco
dc.creator.authorMoreno, Fernando
dc.creator.authorMoserle, Lidia
dc.creator.authorMulligan, Anna Marie
dc.creator.authorNathanson, Katherine L.
dc.creator.authorNeuhausen, Susan L.
dc.creator.authorNevanlinna, Heli
dc.creator.authorNevelsteen, Ines
dc.creator.authorNielsen, Finn C.
dc.creator.authorNikitina-Zake, Liene
dc.creator.authorNussbaum, Robert L.
dc.creator.authorOffit, Kenneth
dc.creator.authorOlah, Edith
dc.creator.authorOlopade, Olufunmilayo I.
dc.creator.authorOlsson, Håkan
dc.creator.authorOsorio, Ana
dc.creator.authorPapp, Janos
dc.creator.authorPark-Simon, Tjoung-Won
dc.creator.authorParsons, Michael T.
dc.creator.authorPedersen, Inge Søkilde
dc.creator.authorPeixoto, Ana
dc.creator.authorPeterlongo, Paolo
dc.creator.authorPharoah, Paul D.P.
dc.creator.authorPlaseska-Karanfilska, Dijana
dc.creator.authorPoppe, Bruce
dc.creator.authorPresneau, Nadege
dc.creator.authorRadice, Paolo
dc.creator.authorRantala, Johanna
dc.creator.authorRennert, Gad
dc.creator.authorRisch, Harvey A.
dc.creator.authorSaloustros, Emmanouil
dc.creator.authorSanden, Kristin
dc.creator.authorSawyer, Elinor J.
dc.creator.authorSchmidt, Marjanka K.
dc.creator.authorSchmutzler, Rita K.
dc.creator.authorSharma, Priyanka
dc.creator.authorShu, Xiao-Ou
dc.creator.authorSimard, Jacques
dc.creator.authorSinger, Christian F.
dc.creator.authorSoucy, Penny
dc.creator.authorSouthey, Melissa C.
dc.creator.authorSpinelli, John J.
dc.creator.authorSpurdle, Amanda B.
dc.creator.authorStone, Jennifer
dc.creator.authorSwerdlow, Anthony J.
dc.creator.authorTapper, William J.
dc.creator.authorTaylor, Jack A.
dc.creator.authorTeixeira, Manuel R.
dc.creator.authorTerry, Mary Beth
dc.creator.authorTeulé, Alex
dc.creator.authorThomassen, Mads
dc.creator.authorThöne, Kathrin
dc.creator.authorThull, Darcy L.
dc.creator.authorTischkowitz, Marc
dc.creator.authorToland, Amanda E.
dc.creator.authorTorres, Diana
dc.creator.authorTruong, Thérèse
dc.creator.authorTung, Nadine
dc.creator.authorVachon, Celine M.
dc.creator.authorvan Asperen, Christi J.
dc.creator.authorvan den Ouweland, Ans M.W.
dc.creator.authorvan Rensburg, Elizabeth J.
dc.creator.authorVega, Ana
dc.creator.authorViel, Alessandra
dc.creator.authorWang, Qin
dc.creator.authorWappenschmidt, Barbara
dc.creator.authorWeitzel, Jeffrey N.
dc.creator.authorWendt, Camilla
dc.creator.authorWinqvist, Robert
dc.creator.authorYang, Xiaohong R.
dc.creator.authorYannoukakos, Drakoulis
dc.creator.authorZiogas, Argyrios
dc.creator.authorKraft, Peter
dc.creator.authorAntoniou, Antoniou C.
dc.creator.authorZheng, Wei
dc.creator.authorEaston, Douglas F.
dc.creator.authorMilne, Roger L.
dc.creator.authorBeesley, Jonathan
dc.creator.authorChenevix-Trench, Georgia
cristin.unitcode185,53,82,10
cristin.unitnameAvdeling for klinisk molekylærbiologi
cristin.ispublishedtrue
cristin.fulltextoriginal
cristin.qualitycode2
dc.identifier.cristin1727482
dc.identifier.bibliographiccitationinfo:ofi/fmt:kev:mtx:ctx&ctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=Nature Communications&rft.volume=10:1741&rft.spage=1&rft.date=2019
dc.identifier.jtitleNature Communications
dc.identifier.volume10:1741
dc.identifier.startpage1
dc.identifier.endpage18
dc.identifier.doihttps://doi.org/10.1038/s41467-018-08053-5
dc.identifier.urnURN:NBN:no-80084
dc.type.documentTidsskriftartikkel
dc.type.peerreviewedPeer reviewed
dc.source.issn2041-1723
dc.identifier.fulltextFulltext https://www.duo.uio.no/bitstream/handle/10852/77007/2/s41467-018-08053-5.pdf
dc.type.versionPublishedVersion


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