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Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer
Authors :
Ferreira, Manuel A. Gamazon, Eric R. Al-Ejeh, Fares Aittomaki, Kristiina Andrulis, Irene L. Anton-Culver, Hoda Arason, Adalgeir Arndt, Volker Aronson, Kristan J. Arun, Banu K. Asseryanis, Ella Azzollini, Jacopo Balmana, Judith Barnes, Daniel R. Barrowdale, Daniel Beckmann, Matthias W. Behrens, Sabine Benitez, Javier Bermisheva, Marina Bialkowska, Katarzyna Blomqvist, Carl Bogdanova, Natalia, V Bojesen, Stig E. Bolla, Manjeet K. Borg, Ake Brauch, Hiltrud Brenner, Hermann Broeks, Annegien Burwinkel, Barbara Caldes, 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 Doerk, 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 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 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 Lindstrom, Sara Long, Jirong Loud, Jennifer T. Lubinski, 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, Hakan Osorio, Ana Papp, Janos Park-Simon, Tjoung-Won Parsons, Michael T. Pedersen, Inge Sokilde 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 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 Wang, Qin Wappenschmidt, Barbara Weitzel, Jeffrey N. Wendt, Camilla Winqvist, Robert Yang, Xiaohong R. Yannoukakos, Drakoulis Ziogas, Argyrios Kraft, Peter Antoniou, Antonis C. Zheng, Wei Easton, Douglas F. Milne, Roger L. Beesley, Jonathan Chenevix-Trench, Georgia Arnold, Norbert 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 Forbes, John Lee, Soon C. Marsh, Deborah Morey, Adrienne Pathmanathan, Nirmala Simpson, Peter Spigelman, Allan Wilcken, Nicholas Yip, Desmond Ferreira, Manuel A. Gamazon, Eric R. Al-Ejeh, Fares Aittomaki, Kristiina Andrulis, Irene L. Anton-Culver, Hoda Arason, Adalgeir Arndt, Volker Aronson, Kristan J. Arun, Banu K. Asseryanis, Ella Azzollini, Jacopo Balmana, Judith Barnes, Daniel R. Barrowdale, Daniel Beckmann, Matthias W. Behrens, Sabine Benitez, Javier Bermisheva, Marina Bialkowska, Katarzyna Blomqvist, Carl Bogdanova, Natalia, V Bojesen, Stig E. Bolla, Manjeet K. Borg, Ake Brauch, Hiltrud Brenner, Hermann Broeks, Annegien Burwinkel, Barbara Caldes, 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 Doerk, 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 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 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 Lindstrom, Sara Long, Jirong Loud, Jennifer T. Lubinski, 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, Hakan Osorio, Ana Papp, Janos Park-Simon, Tjoung-Won Parsons, Michael T. Pedersen, Inge Sokilde 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 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 Wang, Qin Wappenschmidt, Barbara Weitzel, Jeffrey N. Wendt, Camilla Winqvist, Robert Yang, Xiaohong R. Yannoukakos, Drakoulis Ziogas, Argyrios Kraft, Peter Antoniou, Antonis C. Zheng, Wei Easton, Douglas F. Milne, Roger L. Beesley, Jonathan Chenevix-Trench, Georgia Arnold, Norbert 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 Forbes, John Lee, Soon C. Marsh, Deborah Morey, Adrienne Pathmanathan, Nirmala Simpson, Peter Spigelman, Allan Wilcken, Nicholas Yip, Desmond
Publication Year :
2019
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.
Details
Database :
OAIster
Notes :
English
Publication Type :
Electronic Resource
Accession number :
edsoai.on1201315990
Document Type :
Electronic Resource