Ferreira, Manuel A., Gamazon, Eric R., Al-Ejeh, Fares ORCID: 0000-0002-1553-0077, Aittomaki, Kristiina, Andrulis, Irene L., Anton-Culver, Hoda, Arason, Adalgeir, Arndt, Volker ORCID: 0000-0001-9320-8684, Aronson, Kristan J., Arun, Banu K., Asseryanis, Ella, Azzollini, Jacopo, Balmana, Judith ORCID: 0000-0002-0762-6415, Barnes, Daniel R., Barrowdale, Daniel, Beckmann, Matthias W., Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Bialkowska, Katarzyna, Blomqvist, Carl ORCID: 0000-0003-3041-1938, Bogdanova, Natalia, V, Bojesen, Stig E., Bolla, Manjeet K., Borg, Ake, Brauch, Hiltrud ORCID: 0000-0001-7531-2736, Brenner, Hermann, Broeks, Annegien, Burwinkel, Barbara, Caldes, Trinidad, Caligo, Maria A., Campa, Daniele, Campbell, Ian, Canzian, Federico ORCID: 0000-0002-4261-4583, Carter, Jonathan ORCID: 0000-0003-3871-2815, 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 ORCID: 0000-0002-5138-1099, Cross, Simon S., Czene, Kamila, Daly, Mary B., de la Hoya, Miguel, Dennis, Joe, Devilee, Peter, Diez, Orland, Doerk, Thilo, Dunning, Alison M., Dwek, Miriam, Eccles, Diana M., Ejlertsen, Bent, Ellberg, Carolina ORCID: 0000-0001-7297-0645, Engel, Christoph ORCID: 0000-0002-7247-282X, 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, Garcia-Closas, Montserrat, Garcia-Saenz, Jose A., Gaudet, Mia M., Giles, Graham G., Glendon, Gord, Godwin, Andrew K., Goldberg, Mark S., Goldgar, David E., Gonzalez-Neira, Anna, Greene, Mark H., Gronwald, Jacek, Guenel, Pascal ORCID: 0000-0002-8359-518X, Haiman, Christopher A., Hall, Per, Hamann, Ute, He, Wei ORCID: 0000-0003-0161-3274, Heyworth, Jane ORCID: 0000-0003-1411-4554, 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 ORCID: 0000-0002-5650-0501, James, Paul A., Janavicius, Ramunas, Jankowitz, Rachel C., John, Esther M., Johnson, Nichola, Joseph, Vijai ORCID: 0000-0002-7933-151X, Karlan, Beth Y., Khusnutdinova, Elza, Kiiski, Johanna, I, Ko, Yon-Dschun, Jones, Michael E., Konstantopoulou, Irene ORCID: 0000-0002-0470-0309, Kristensen, Vessela N., Laitman, Yael, Lambrechts, Diether ORCID: 0000-0002-3429-302X, Lazaro, Conxi, Leslie, Goska, Lester, Jenny, Lesueur, Fabienne, Lindstrom, Sara, Long, Jirong ORCID: 0000-0002-7433-9766, Loud, Jennifer T., Lubinski, Jan, Makalic, Enes, Mannermaa, Arto, Manoochehri, Mehdi, Margolin, Sara, Maurer, Tabea, Mavroudis, Dimitrios, McGuffog, Lesley, Meindl, Alfons, Menon, Usha ORCID: 0000-0003-3708-1732, Michailidou, Kyriaki, Miller, Austin, Montagna, Marco, Moreno, Fernando ORCID: 0000-0001-8933-0687, Moserle, Lidia ORCID: 0000-0001-9066-6786, 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, Hakan ORCID: 0000-0002-8794-9635, Osorio, Ana ORCID: 0000-0001-8124-3984, Papp, Janos, Park-Simon, Tjoung-Won, Parsons, Michael T., Pedersen, Inge Sokilde, Peixoto, Ana ORCID: 0000-0002-1404-5897, Peterlongo, Paolo ORCID: 0000-0001-6951-6855, Pharoah, Paul D. P., Plaseska-Karanfilska, Dijana, Poppe, Bruce, Presneau, Nadege, Radice, Paolo ORCID: 0000-0001-6298-4111, Rantala, Johanna, Rennert, Gad, Risch, Harvey A., Saloustros, Emmanouil ORCID: 0000-0002-0485-0120, 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 ORCID: 0000-0001-5077-0124, Swerdlow, Anthony J., Tapper, William J., Taylor, Jack A., Teixeira, Manuel R., Terry, Mary Beth, Teule, Alex, Thomassen, Mads, Thoene, Kathrin, Thull, Darcy L., Tischkowitz, Marc, Toland, Amanda E., Torres, Diana, Truong, Therese, Tung, Nadine, Vachon, Celine M., van Asperen, Christi J., van den Ouweland, Ans M. W., van Rensburg, Elizabeth J., Vega, Ana, Viel, Alessandra ORCID: 0000-0003-2804-0840, Wang, Qin, Wappenschmidt, Barbara, Weitzel, Jeffrey N., Wendt, Camilla, Winqvist, Robert, Yang, Xiaohong R., Yannoukakos, Drakoulis, Ziogas, Argyrios, Kraft, Peter ORCID: 0000-0002-4472-8103, Antoniou, Antonis C., Zheng, Wei, Easton, Douglas F., Milne, Roger L., Beesley, Jonathan, Chenevix-Trench, Georgia ORCID: 0000-0002-1878-2587, Arnold, Norbert ORCID: 0000-0003-4523-8808, Auber, Bernd, Bogdanova-Markov, Nadja, Borde, Julika, Caliebe, Almuth, Ditsch, Nina, Dworniczak, Bernd, Engert, Stefanie, Faust, Ulrike, Gehrig, Andrea, Hahnen, Eric, Hauke, Jan, Hentschel, Julia, Herold, Natalie, Honisch, Ellen, Just, Walter, Kast, Karin, Larsen, Mirjam, Lemke, Johannes, Niederacher, Dieter, Ott, Claus-Eric, Platzer, Konrad, Pohl-Rescigno, Esther, Ramser, Juliane, Rhiem, Kerstin, Steinemann, Doris, Sutter, Christian, Varon-Mateeva, Raymonda, Wang-Gohrke, Shan, Weber, Bernhard H. F., Prieur, Fabienne, Pujol, Pascal, Sagne, Charlotte, Sevenet, Nicolas, Sobol, Hagay, Sokolowska, Johanna, Stoppa-Lyonnet, Dominique, Venat-Bouvet, Laurence, Adlard, Julian, Ahmed, Munaza, Barwell, Julian, Brady, Angela, Brewer, Carole, Cook, Jackie, Davidson, Rosemarie, Donaldson, Alan, Eason, Jacqueline, Eeles, Ros, Evans, D. Gareth, Gregory, Helen, Hanson, Helen, Henderson, Alex, Hodgson, Shirley, Izatt, Louise, Kennedy, M. John, Lalloo, Fiona, Miller, Clare, Morrison, Patrick J., Ong, Kai-ren, Perkins, Jo, Porteous, Mary E., Rogers, Mark T., Side, Lucy E., Snape, Katie, Walker, Lisa, Harrington, Patricia A., Heemskerk-Gerritsen, Bernadette A. M., Rookus, Matti A., Seynaeve, Caroline M., van der Baan, Frederieke H., van der Hout, Annemieke H., van der Kolk, Lizet E., van der Luijt, Rob B., van Deurzen, Carolien H. M., van Doorn, Helena C., van Engelen, Klaartje, van Hest, Liselotte, van Os, Theo A. M., Verhoef, Senno, Vogel, Maartje J., Wijnen, Juul T., Miron, Alexander, Kapuscinski, Miroslav, Bane, Anita, Ross, Eric, Buys, Saundra S., Conner, Thomas A., Balleine, Rosemary, Baxter, Robert, Braye, Stephen, Carpenter, Jane, Dahlstrom, Jane ORCID: 0000-0001-5608-693X, Forbes, John, Lee, Soon C., Marsh, Deborah, Morey, Adrienne, Pathmanathan, Nirmala, Simpson, Peter, Spigelman, Allan, Wilcken, Nicholas and Yip, Desmond ORCID: 0000-0002-2806-2401
(2019).
Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer.
Nat. Commun., 10.
LONDON:
NATURE PUBLISHING GROUP.
ISSN 2041-1723
Full text not available from this repository.
Abstract
Genome-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.
Item Type: |
Journal Article
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Creators: |
Creators | Email | ORCID | ORCID Put Code |
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Ferreira, Manuel A. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Gamazon, Eric R. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Al-Ejeh, Fares | UNSPECIFIED | orcid.org/0000-0002-1553-0077 | UNSPECIFIED | Aittomaki, Kristiina | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Andrulis, Irene L. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Anton-Culver, Hoda | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Arason, Adalgeir | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Arndt, Volker | UNSPECIFIED | orcid.org/0000-0001-9320-8684 | UNSPECIFIED | Aronson, Kristan J. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Arun, Banu K. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Asseryanis, Ella | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Azzollini, Jacopo | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Balmana, Judith | UNSPECIFIED | orcid.org/0000-0002-0762-6415 | UNSPECIFIED | Barnes, Daniel R. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Barrowdale, Daniel | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Beckmann, Matthias W. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Behrens, Sabine | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Benitez, Javier | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Bermisheva, Marina | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Bialkowska, Katarzyna | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Blomqvist, Carl | UNSPECIFIED | orcid.org/0000-0003-3041-1938 | UNSPECIFIED | Bogdanova, Natalia, V | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Bojesen, Stig E. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Bolla, Manjeet K. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Borg, Ake | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Brauch, Hiltrud | UNSPECIFIED | orcid.org/0000-0001-7531-2736 | UNSPECIFIED | Brenner, Hermann | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Broeks, Annegien | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Burwinkel, Barbara | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Caldes, Trinidad | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Caligo, Maria A. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Campa, Daniele | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Campbell, Ian | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Canzian, Federico | UNSPECIFIED | orcid.org/0000-0002-4261-4583 | UNSPECIFIED | Carter, Jonathan | UNSPECIFIED | orcid.org/0000-0003-3871-2815 | UNSPECIFIED | Carter, Brian D. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Castelao, Jose E. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Chang-Claude, Jenny | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Chanock, Stephen J. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Christiansen, Hans | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Chung, Wendy K. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Claes, Kathleen B. M. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Clarke, Christine L. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Couch, Fergus J. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Cox, Angela | UNSPECIFIED | orcid.org/0000-0002-5138-1099 | UNSPECIFIED | Cross, Simon S. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Czene, Kamila | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Daly, Mary B. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | de la Hoya, Miguel | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Dennis, Joe | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Devilee, Peter | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Diez, Orland | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Doerk, Thilo | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Dunning, Alison M. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Dwek, Miriam | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Eccles, Diana M. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Ejlertsen, Bent | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Ellberg, Carolina | UNSPECIFIED | orcid.org/0000-0001-7297-0645 | UNSPECIFIED | Engel, Christoph | UNSPECIFIED | orcid.org/0000-0002-7247-282X | UNSPECIFIED | Eriksson, Mikael | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Fasching, Peter A. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Fletcher, Olivia | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Flyger, Henrik | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Friedman, Eitan | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Frost, Debra | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Gabrielson, Marike | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Gago-Dominguez, Manuela | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Ganz, Patricia A. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Gapstur, Susan M. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Garber, Judy | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Garcia-Closas, Montserrat | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Garcia-Saenz, Jose A. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Gaudet, Mia M. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Giles, Graham G. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Glendon, Gord | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Godwin, Andrew K. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Goldberg, Mark S. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Goldgar, David E. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Gonzalez-Neira, Anna | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Greene, Mark H. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Gronwald, Jacek | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Guenel, Pascal | UNSPECIFIED | orcid.org/0000-0002-8359-518X | UNSPECIFIED | Haiman, Christopher A. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Hall, Per | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Hamann, Ute | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | He, Wei | UNSPECIFIED | orcid.org/0000-0003-0161-3274 | UNSPECIFIED | Heyworth, Jane | UNSPECIFIED | orcid.org/0000-0003-1411-4554 | UNSPECIFIED | Hogervorst, Frans B. 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|
URN: |
urn:nbn:de:hbz:38-150755 |
DOI: |
10.1038/s41467-018-08053-5 |
Journal or Publication Title: |
Nat. Commun. |
Volume: |
10 |
Date: |
2019 |
Publisher: |
NATURE PUBLISHING GROUP |
Place of Publication: |
LONDON |
ISSN: |
2041-1723 |
Language: |
English |
Faculty: |
Unspecified |
Divisions: |
Unspecified |
Subjects: |
no entry |
Uncontrolled Keywords: |
Keywords | Language |
---|
CYCLIN E2; VARIANTS; EXPRESSION; ENHANCERS; CHROMATIN; DISEASE; AUTOIMMUNITY; REGULATOR; COMPLEX; CELLS | Multiple languages | Multidisciplinary Sciences | Multiple languages |
|
Refereed: |
Yes |
URI: |
http://kups.ub.uni-koeln.de/id/eprint/15075 |
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