Advanced search
1 file | 3.15 MB Add to list

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

Author
Organization
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.
Keywords
CYCLIN E2, VARIANTS, EXPRESSION, ENHANCERS, CHROMATIN, DISEASE, AUTOIMMUNITY, REGULATOR, COMPLEX, CELLS

Downloads

  • 8632304.pdf
    • full text
    • |
    • open access
    • |
    • PDF
    • |
    • 3.15 MB

Citation

Please use this url to cite or link to this publication:

MLA
Ferreira, Manuel A., et al. “Genome-Wide Association and Transcriptome Studies Identify Target Genes and Risk Loci for Breast Cancer.” NATURE COMMUNICATIONS, vol. 10, 2019.
APA
Ferreira, M. A., Gamazon, E. R., Al-Ejeh, F., Aittomaki, K., Andrulis, I. L., Anton-Culver, H., … Yip, D. (2019). Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer. NATURE COMMUNICATIONS, 10.
Chicago author-date
Ferreira, Manuel A, Eric R Gamazon, Fares Al-Ejeh, Kristiina Aittomaki, Irene L Andrulis, Hoda Anton-Culver, Adalgeir Arason, et al. 2019. “Genome-Wide Association and Transcriptome Studies Identify Target Genes and Risk Loci for Breast Cancer.” NATURE COMMUNICATIONS 10.
Chicago author-date (all authors)
Ferreira, Manuel A, Eric R Gamazon, Fares Al-Ejeh, Kristiina Aittomaki, Irene L Andrulis, Hoda Anton-Culver, Adalgeir Arason, Volker Arndt, Kristan J Aronson, Banu K Arun, Ella Asseryanis, Jacopo Azzollini, Judith Balmana, Daniel R Barnes, Daniel Barrowdale, Matthias W Beckmann, Sabine Behrens, Javier Benitez, Marina Bermisheva, Katarzyna Bialkowska, Carl Blomqvist, V Bogdanova, Natalia, Stig E Bojesen, Manjeet K Bolla, Ake Borg, Hiltrud Brauch, Hermann Brenner, Annegien Broeks, Barbara Burwinkel, Trinidad Caldes, Maria A Caligo, Daniele Campa, Ian Campbell, Federico Canzian, Jonathan Carter, Brian D Carter, Jose E Castelao, Jenny Chang-Claude, Stephen J Chanock, Hans Christiansen, Wendy K Chung, Kathleen Claes, Christine L Clarke, Fergus J Couch, Angela Cox, Simon S Cross, Kamila Czene, Mary B Daly, Miguel de la Hoya, Joe Dennis, Peter Devilee, Orland Diez, Thilo Doerk, Alison M Dunning, Miriam Dwek, Diana M Eccles, Bent Ejlertsen, Carolina Ellberg, Christoph Engel, Mikael Eriksson, Peter A Fasching, Olivia Fletcher, Henrik Flyger, Eitan Friedman, Debra Frost, Marike Gabrielson, Manuela Gago-Dominguez, Patricia A Ganz, Susan M Gapstur, Judy Garber, Montserrat Garcia-Closas, Jose A Garcia-Saenz, Mia M Gaudet, Graham G Giles, Gord Glendon, Andrew K Godwin, Mark S Goldberg, David E Goldgar, Anna Gonzalez-Neira, Mark H Greene, Jacek Gronwald, Pascal Guenel, Christopher A. Haiman, Per Hall, Ute Hamann, Wei He, Jane Heyworth, Frans BL Hogervorst, Antoinette Hollestelle, Robert N Hoover, John L Hopper, Peter J Hulick, Keith Humphreys, Evgeny N Imyanitov, Claudine Isaacs, Milena Jakimovska, Anna Jakubowska, Paul A James, Ramunas Janavicius, Rachel C Jankowitz, Esther M John, Nichola Johnson, Vijai Joseph, Beth Y Karlan, Elza Khusnutdinova, I Kiiski, Johanna, Yon-Dschun Ko, Michael E Jones, Irene Konstantopoulou, Vessela N Kristensen, Yael Laitman, Diether Lambrechts, Conxi Lazaro, Goska Leslie, Jenny Lester, Fabienne Lesueur, Sara Lindstrom, Jirong Long, Jennifer T Loud, Jan Lubinski, Enes Makalic, Arto Mannermaa, Mehdi Manoochehri, Sara Margolin, Tabea Maurer, Dimitrios Mavroudis, Lesley McGuffog, Alfons Meindl, Usha Menon, Kyriaki Michailidou, Austin Miller, Marco Montagna, Fernando Moreno, Lidia Moserle, Anna Marie Mulligan, Katherine L Nathanson, Susan L Neuhausen, Heli Nevanlinna, Ines Nevelsteen, Finn C Nielsen, Liene Nikitina-Zake, Robert L Nussbaum, Kenneth Offit, Edith Olah, I Olopade, Olufunmilayo, Hakan Olsson, Ana Osorio, Janos Papp, Tjoung-Won Park-Simon, Michael T Parsons, Inge Sokilde Pedersen, Ana Peixoto, Paolo Peterlongo, Paul DP Pharoah, Dijana Plaseska-Karanfilska, Bruce Poppe, Nadege Presneau, Paolo Radice, Johanna Rantala, Gad Rennert, Harvey A Risch, Emmanouil Saloustros, Kristin Sanden, Elinor J Sawyer, Marjanka K Schmidt, Rita K Schmutzler, Priyanka Sharma, Xiao-Ou Shu, Jacques Simard, Christian F Singer, Penny Soucy, Melissa C Southey, John J Spinelli, Amanda B Spurdle, Jennifer Stone, Anthony J Swerdlow, William J Tapper, Jack A Taylor, Manuel R Teixeira, Mary Beth Terry, Alex Teule, Mads Thomassen, Kathrin Thoene, Darcy L Thull, Marc Tischkowitz, Amanda E Toland, Diana Torres, Therese Truong, Nadine Tung, Celine M Vachon, Christi J van Asperen, Ans MW van den Ouweland, Elizabeth J van Rensburg, Ana Vega, Alessandra Viel, Qin Wang, Barbara Wappenschmidt, Jeffrey N Weitzel, Camilla Wendt, Robert Winqvist, Xiaohong R Yang, Drakoulis Yannoukakos, Argyrios Ziogas, Peter Kraft, Antonis C Antoniou, Wei Zheng, Douglas F Easton, Roger L Milne, Jonathan Beesley, Georgia Chenevix-Trench, Norbert Arnold, Bernd Auber, Nadja Bogdanova-Markov, Julika Borde, Almuth Caliebe, Nina Ditsch, Bernd Dworniczak, Stefanie Engert, Ulrike Faust, Andrea Gehrig, Eric Hahnen, Jan Hauke, Julia Hentschel, Natalie Herold, Ellen Honisch, Walter Just, Karin Kast, Mirjam Larsen, Johannes Lemke, Huu Phuc Nguyen Huu Phuc Nguyen, Dieter Niederacher, Claus-Eric Ott, Konrad Platzer, Esther Pohl-Rescigno, Juliane Ramser, Kerstin Rhiem, Doris Steinemann, Christian Sutter, Raymonda Varon-Mateeva, Shan Wang-Gohrke, Bernhard HF Weber, Fabienne Prieur, Pascal Pujol, Charlotte Sagne, Nicolas Sevenet, Hagay Sobol, Johanna Sokolowska, Dominique Stoppa-Lyonnet, Laurence Venat-Bouvet, Julian Adlard, Munaza Ahmed, Julian Barwell, Angela Brady, Carole Brewer, Jackie Cook, Rosemarie Davidson, Alan Donaldson, Jacqueline Eason, Ros Eeles, D Gareth Evans, Helen Gregory, Helen Hanson, Alex Henderson, Shirley Hodgson, Louise Izatt, M John Kennedy, Fiona Lalloo, Clare Miller, Patrick J Morrison, Kai-ren Ong, Jo Perkins, Mary E Porteous, Mark T Rogers, Lucy E Side, Katie Snape, Lisa Walker, Patricia A Harrington, Bernadette AM Heemskerk-Gerritsen, Matti A Rookus, Caroline M Seynaeve, Frederieke H van der Baan, Annemieke H. van der Hout, Lizet E van der Kolk, Rob B van der Luijt, Carolien HM van Deurzen, Helena C van Doorn, Klaartje van Engelen, Liselotte van Hest, Theo AM van Os, Senno Verhoef, Maartje J Vogel, Juul T Wijnen, Alexander Miron, Miroslav Kapuscinski, Anita Bane, Eric Ross, Saundra S Buys, Thomas A Conner, Rosemary Balleine, Robert Baxter, Stephen Braye, Jane Carpenter, Jane Dahlstrom, John Forbes, Soon C Lee, Deborah Marsh, Adrienne Morey, Nirmala Pathmanathan, Peter Simpson, Allan Spigelman, Nicholas Wilcken, and Desmond Yip. 2019. “Genome-Wide Association and Transcriptome Studies Identify Target Genes and Risk Loci for Breast Cancer.” NATURE COMMUNICATIONS 10.
Vancouver
1.
Ferreira MA, Gamazon ER, Al-Ejeh F, Aittomaki K, Andrulis IL, Anton-Culver H, et al. Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer. NATURE COMMUNICATIONS. 2019;10.
IEEE
[1]
M. A. Ferreira et al., “Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer,” NATURE COMMUNICATIONS, vol. 10, 2019.
@article{8632944,
  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.},
  articleno    = {1741},
  author       = {Ferreira, Manuel A and Gamazon, Eric R and Al-Ejeh, Fares and Aittomaki, Kristiina and Andrulis, Irene L and Anton-Culver, Hoda and Arason, Adalgeir and Arndt, Volker and Aronson, Kristan J and Arun, Banu K and Asseryanis, Ella and Azzollini, Jacopo and Balmana, Judith and Barnes, Daniel R and Barrowdale, Daniel and Beckmann, Matthias W and Behrens, Sabine and Benitez, Javier and Bermisheva, Marina and Bialkowska, Katarzyna and Blomqvist, Carl and Bogdanova, Natalia, V and Bojesen, Stig E and Bolla, Manjeet K and Borg, Ake and Brauch, Hiltrud and Brenner, Hermann and Broeks, Annegien and Burwinkel, Barbara and Caldes, Trinidad and Caligo, Maria A and Campa, Daniele and Campbell, Ian and Canzian, Federico and Carter, Jonathan and Carter, Brian D and Castelao, Jose E and Chang-Claude, Jenny and Chanock, Stephen J and Christiansen, Hans and Chung, Wendy K and Claes, Kathleen and Clarke, Christine L and Couch, Fergus J and Cox, Angela and Cross, Simon S and Czene, Kamila and Daly, Mary B and de la Hoya, Miguel and Dennis, Joe and Devilee, Peter and Diez, Orland and Doerk, Thilo and Dunning, Alison M and Dwek, Miriam and Eccles, Diana M and Ejlertsen, Bent and Ellberg, Carolina and Engel, Christoph and Eriksson, Mikael and Fasching, Peter A and Fletcher, Olivia and Flyger, Henrik and Friedman, Eitan and Frost, Debra and Gabrielson, Marike and Gago-Dominguez, Manuela and Ganz, Patricia A and Gapstur, Susan M and Garber, Judy and Garcia-Closas, Montserrat and Garcia-Saenz, Jose A and Gaudet, Mia M and Giles, Graham G and Glendon, Gord and Godwin, Andrew K and Goldberg, Mark S and Goldgar, David E and Gonzalez-Neira, Anna and Greene, Mark H and Gronwald, Jacek and Guenel, Pascal and Haiman, Christopher A. and Hall, Per and Hamann, Ute and He, Wei and Heyworth, Jane and Hogervorst, Frans BL and Hollestelle, Antoinette and Hoover, Robert N and Hopper, John L and Hulick, Peter J and Humphreys, Keith and Imyanitov, Evgeny N and Isaacs, Claudine and Jakimovska, Milena and Jakubowska, Anna and James, Paul A and Janavicius, Ramunas and Jankowitz, Rachel C and John, Esther M and Johnson, Nichola and Joseph, Vijai and Karlan, Beth Y and Khusnutdinova, Elza and Kiiski, Johanna, I and Ko, Yon-Dschun and Jones, Michael E and Konstantopoulou, Irene and Kristensen, Vessela N and Laitman, Yael and Lambrechts, Diether and Lazaro, Conxi and Leslie, Goska and Lester, Jenny and Lesueur, Fabienne and Lindstrom, Sara and Long, Jirong and Loud, Jennifer T and Lubinski, Jan and Makalic, Enes and Mannermaa, Arto and Manoochehri, Mehdi and Margolin, Sara and Maurer, Tabea and Mavroudis, Dimitrios and McGuffog, Lesley and Meindl, Alfons and Menon, Usha and Michailidou, Kyriaki and Miller, Austin and Montagna, Marco and Moreno, Fernando and Moserle, Lidia and Mulligan, Anna Marie and Nathanson, Katherine L and Neuhausen, Susan L and Nevanlinna, Heli and Nevelsteen, Ines and Nielsen, Finn C and Nikitina-Zake, Liene and Nussbaum, Robert L and Offit, Kenneth and Olah, Edith and Olopade, Olufunmilayo, I and Olsson, Hakan and Osorio, Ana and Papp, Janos and Park-Simon, Tjoung-Won and Parsons, Michael T and Pedersen, Inge Sokilde and Peixoto, Ana and Peterlongo, Paolo and Pharoah, Paul DP and Plaseska-Karanfilska, Dijana and Poppe, Bruce and Presneau, Nadege and Radice, Paolo and Rantala, Johanna and Rennert, Gad and Risch, Harvey A and Saloustros, Emmanouil and Sanden, Kristin and Sawyer, Elinor J and Schmidt, Marjanka K and Schmutzler, Rita K and Sharma, Priyanka and Shu, Xiao-Ou and Simard, Jacques and Singer, Christian F and Soucy, Penny and Southey, Melissa C and Spinelli, John J and Spurdle, Amanda B and Stone, Jennifer and Swerdlow, Anthony J and Tapper, William J and Taylor, Jack A and Teixeira, Manuel R and Terry, Mary Beth and Teule, Alex and Thomassen, Mads and Thoene, Kathrin and Thull, Darcy L and Tischkowitz, Marc and Toland, Amanda E and Torres, Diana and Truong, Therese and Tung, Nadine and Vachon, Celine M and van Asperen, Christi J and van den Ouweland, Ans MW and van Rensburg, Elizabeth J and Vega, Ana and Viel, Alessandra and Wang, Qin and Wappenschmidt, Barbara and Weitzel, Jeffrey N and Wendt, Camilla and Winqvist, Robert and Yang, Xiaohong R and Yannoukakos, Drakoulis and Ziogas, Argyrios and Kraft, Peter and Antoniou, Antonis C and Zheng, Wei and Easton, Douglas F and Milne, Roger L and Beesley, Jonathan and Chenevix-Trench, Georgia and Arnold, Norbert and Auber, Bernd and Bogdanova-Markov, Nadja and Borde, Julika and Caliebe, Almuth and Ditsch, Nina and Dworniczak, Bernd and Engert, Stefanie and Faust, Ulrike and Gehrig, Andrea and Hahnen, Eric and Hauke, Jan and Hentschel, Julia and Herold, Natalie and Honisch, Ellen and Just, Walter and Kast, Karin and Larsen, Mirjam and Lemke, Johannes and Huu Phuc Nguyen, Huu Phuc Nguyen and Niederacher, Dieter and Ott, Claus-Eric and Platzer, Konrad and Pohl-Rescigno, Esther and Ramser, Juliane and Rhiem, Kerstin and Steinemann, Doris and Sutter, Christian and Varon-Mateeva, Raymonda and Wang-Gohrke, Shan and Weber, Bernhard HF and Prieur, Fabienne and Pujol, Pascal and Sagne, Charlotte and Sevenet, Nicolas and Sobol, Hagay and Sokolowska, Johanna and Stoppa-Lyonnet, Dominique and Venat-Bouvet, Laurence and Adlard, Julian and Ahmed, Munaza and Barwell, Julian and Brady, Angela and Brewer, Carole and Cook, Jackie and Davidson, Rosemarie and Donaldson, Alan and Eason, Jacqueline and Eeles, Ros and Evans, D Gareth and Gregory, Helen and Hanson, Helen and Henderson, Alex and Hodgson, Shirley and Izatt, Louise and Kennedy, M John and Lalloo, Fiona and Miller, Clare and Morrison, Patrick J and Ong, Kai-ren and Perkins, Jo and Porteous, Mary E and Rogers, Mark T and Side, Lucy E and Snape, Katie and Walker, Lisa and Harrington, Patricia A and Heemskerk-Gerritsen, Bernadette AM and Rookus, Matti A and Seynaeve, Caroline M and van der Baan, Frederieke H and van der Hout, Annemieke H. and van der Kolk, Lizet E and van der Luijt, Rob B and van Deurzen, Carolien HM and van Doorn, Helena C and van Engelen, Klaartje and van Hest, Liselotte and van Os, Theo AM and Verhoef, Senno and Vogel, Maartje J and Wijnen, Juul T and Miron, Alexander and Kapuscinski, Miroslav and Bane, Anita and Ross, Eric and Buys, Saundra S and Conner, Thomas A and Balleine, Rosemary and Baxter, Robert and Braye, Stephen and Carpenter, Jane and Dahlstrom, Jane and Forbes, John and Lee, Soon C and Marsh, Deborah and Morey, Adrienne and Pathmanathan, Nirmala and Simpson, Peter and Spigelman, Allan and Wilcken, Nicholas and Yip, Desmond},
  issn         = {2041-1723},
  journal      = {NATURE COMMUNICATIONS},
  keywords     = {CYCLIN E2,VARIANTS,EXPRESSION,ENHANCERS,CHROMATIN,DISEASE,AUTOIMMUNITY,REGULATOR,COMPLEX,CELLS},
  language     = {eng},
  pages        = {18},
  title        = {Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer},
  url          = {http://dx.doi.org/10.1038/s41467-018-08053-5},
  volume       = {10},
  year         = {2019},
}

Altmetric
View in Altmetric
Web of Science
Times cited: