Polymorphisms in a putative enhancer at the 10q21.2 breast cancer risk locus regulate NRBF2 expression
作者： Hatef Darabi , Karen McCue , Jonathan Beesley , Kyriaki Michailidou , Silje Nord
DOI: 10.1016/J.AJHG.2015.05.002
关键词:
摘要: Genome-wide association studies have identified SNPs near ZNF365 at 10q21.2 that are associated with both breast cancer risk and mammographic density. To identify the most likely causal SNPs, we fine mapped signal by genotyping 428 across region in 89,050 European 12,893 Asian case control subjects from Breast Cancer Association Consortium. We four independent sets of correlated, highly trait-associated variants (iCHAVs), three which were located within ZNF365. The strongly risk-associated SNP, rs10995201 iCHAV1, showed clear evidence estrogen receptor (ER)-positive (OR = 0.85 [0.82-0.88]) ER-negative 0.87 [0.82-0.91]) disease, was also SNP percent iCHAV2 (lead chr10: 64,258,684:D) iCHAV3 rs7922449) ER-positive 0.93 [0.91-0.95] OR 1.06 [1.03-1.09]) 0.95 [0.91-0.98] 1.08 [1.04-1.13]) disease. There weaker for iCHAV4, 5' ADO, only [0.90-0.96]). found 12, 17, 18, 2 candidate iCHAVs 1-4, respectively. Chromosome conformation capture analysis interacts NRBF2 (more than 600 kb away) promoters normal cancerous epithelial cells. Luciferase assays did not affect transactivation ZNF365, but a protective haplotype iCHAV2, silencing promoter, implicating this gene etiology cancer.
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Amy Victoria Spencer, Angela Cox, Kevin Walters, Comparing the Efficacy of SNP Filtering Methods for Identifying a Single Causal SNP in a Known Association Region Annals of Human Genetics. ,vol. 78, pp. 50- 61 ,(2014) , 10.1111/AHG.12043
Jacques Ferlay, Isabelle Soerjomataram, Rajesh Dikshit, Sultan Eser, Colin Mathers, Marise Rebelo, Donald Maxwell Parkin, David Forman, Freddie Bray, Cancer incidence and mortality worldwide: sources, methods and major patterns in GLOBOCAN 2012. International Journal of Cancer. ,vol. 136, ,(2015) , 10.1002/IJC.29210
Hiroaki Yasumo, Nobuyuki Masuda, Takashi Furusawa, Toshiro Tsukamoto, Hiroyuki Sadano, Takashi Osumi, Nuclear receptor binding factor-2 (NRBF-2), a possible gene activator protein interacting with nuclear hormone receptors. Biochimica et Biophysica Acta. ,vol. 1490, pp. 189- 197 ,(2000) , 10.1016/S0167-4781(99)00244-4
Jacques Ferlay, Hai-Rim Shin, Freddie Bray, David Forman, Colin Mathers, Donald Maxwell Parkin, Estimates of worldwide burden of cancer in 2008: GLOBOCAN 2008. International Journal of Cancer. ,vol. 127, pp. 2893- 2917 ,(2010) , 10.1002/IJC.25516
Bryan N. Howie, Peter Donnelly, Jonathan Marchini, A flexible and accurate genotype imputation method for the next generation of genome-wide association studies. PLOS Genetics. ,vol. 5, ,(2009) , 10.1371/JOURNAL.PGEN.1000529
Christina Curtis, Sohrab P Shah, Suet-Feung Chin, Gulisa Turashvili, Oscar M Rueda, Mark J Dunning, Doug Speed, Andy G Lynch, Shamith Samarajiwa, Yinyin Yuan, Stefan Gräf, Gavin Ha, Gholamreza Haffari, Ali Bashashati, Roslin Russell, Steven McKinney, METABRIC Group Co-chairs Caldas Carlos Aparicio Samuel saparicio@ bccrc. ca 17 18 c, Writing committee Curtis† Christina 15 16 Shah Sohrab P. 17 18 Caldas Carlos Aparicio Samuel saparicio@ bccrc. ca 17 18 e, Steering committee Brenton James D. 15 16 Ellis Ian 19 Huntsman David 17 18 Pinder Sarah 20 Purushotham Arnie 20 Murphy Leigh 21 Caldas Carlos Aparicio Samuel saparicio@ bccrc. ca 17 18 j, British Columbia Cancer Agency Aparicio Samuel saparicio@ bccrc. ca 17 18 b Chia Steven 18 Gelmon Karen 18 Huntsman David 17 18 McKinney Steven 17 18 Speers Caroline 18 Turashvili Gulisa 17 18 Watson Peter 17 18 21, University of Nottingham Ellis Ian 19 Blamey Roger 19 Green Andrew 19 Macmillan Douglas 19 Rakha Emad 19, King’s College London Purushotham Arnie 20 Gillett Cheryl 20 Grigoriadis Anita 20 Pinder Sarah 20 de Rinaldis Emanuele 20 Tutt Andy 20, Manitoba Institute of Cell Biology Murphy Leigh 21 Parisien Michelle 21 Troup Sandra 21, British Columbia Cancer Agency Aparicio Samuel saparicio@ bccrc. ca 17 18 b Turashvili Gulisa 17 18 Bell Lynda 18 Chow Katie 18 Gale Nadia 18 Huntsman David 17 18 Kovalik Maria 18 Ng Ying 18 Prentice Leah 18, British Columbia Cancer Agency Aparicio Samuel saparicio@ bccrc. ca 17 18 b Shah Sohrab P. 17 18 Bashashati Ali 17 Ha Gavin 17 Haffari Gholamreza 17 McKinney Steven 17 18, None, The genomic and transcriptomic architecture of 2,000 breast tumours reveals novel subgroups Nature. ,vol. 486, pp. 346- 352 ,(2012) , 10.1038/NATURE10983
Yu Zhong, Deanna H. Morris, Lin Jin, Mittul S. Patel, Senthil K. Karunakaran, You-Jun Fu, Emily A. Matuszak, Heidi L. Weiss, Brian T. Chait, Qing Jun Wang, Nrbf2 protein suppresses autophagy by modulating Atg14L protein-containing Beclin 1-Vps34 complex architecture and reducing intracellular phosphatidylinositol-3 phosphate levels. Journal of Biological Chemistry. ,vol. 289, pp. 26021- 26037 ,(2014) , 10.1074/JBC.M114.561134
David A. Quigley, Elisa Fiorito, Silje Nord, Peter Van Loo, Grethe Grenaker Alnaes, Thomas Fleischer, Jorg Tost, Hans Kristian Moen Vollan, Trine Tramm, Jens Overgaard, Ida R. Bukholm, Antoni Hurtado, Allan Balmain, Anne-Lise Børresen-Dale, Vessela Kristensen, The 5p12 breast cancer susceptibility locus affects MRPS30 expression in estrogen-receptor positive tumors. Molecular Oncology. ,vol. 8, pp. 273- 284 ,(2014) , 10.1016/J.MOLONC.2013.11.008
Qi Guo, Marjanka K Schmidt, Peter Kraft, Sander Canisius, Constance Chen, Sofia Khan, Jonathan Tyrer, Manjeet K Bolla, Qin Wang, Joe Dennis, Kyriaki Michailidou, Michael Lush, Siddhartha Kar, Jonathan Beesley, Alison M Dunning, Mitul Shah, Kamila Czene, Hatef Darabi, Mikael Eriksson, Diether Lambrechts, Caroline Weltens, Karin Leunen, Stig E Bojesen, Børge G Nordestgaard, Sune F Nielsen, Henrik Flyger, Jenny Chang-Claude, Anja Rudolph, Petra Seibold, Dieter Flesch-Janys, Carl Blomqvist, Kristiina Aittomäki, Rainer Fagerholm, Taru A Muranen, Fergus J Couch, Janet E Olson, Celine Vachon, Irene L Andrulis, Julia A Knight, Gord Glendon, Anna Marie Mulligan, Annegien Broeks, Frans B Hogervorst, Christopher A Haiman, Brian E Henderson, Fredrick Schumacher, Loic Le Marchand, John L Hopper, Helen Tsimiklis, Carmel Apicella, Melissa C Southey, Angela Cox, Simon S Cross, Malcolm WR Reed, Graham G Giles, Roger L Milne, Catriona McLean, Robert Winqvist, Katri Pylkaes, Arja Jukkola-Vuorinen, Mervi Grip, Maartje J Hooning, Antoinette Hollestelle, John WM Martens, Ans MW Van den Ouweland, Federik Marme, Andreas Schneeweiss, Rongxi Yang, Barbara Burwinkel, Jonine Figueroa, Stephen J Chanock, Jolanta Lissowska, Elinor J Sawyer, Ian Tomlinson, Michael J Kerin, Nicola Miller, Hermann Brenner, Aida Karina Dieffenbach, Volker Arndt, Bernd Holleczek, Arto Mannermaa, Vesa Kataja, Veli-Matti Kosma, Jaana M Hartikainen, Jingmei Li, Judith S Brand, Keith Humphreys, Peter Devilee, Rob AEM Tollenaar, Caroline Seynaeve, Paolo Radice, Paolo Peterlongo, Bernardo Bonanni, Paolo Mariani, Peter A Fasching, Matthias W Beckmann, Alexander Hein, Arif B Ekici, Georgia Chenevix-Trench, Rosemary Balleine, kConFab Investigators, Kelly-Anne Phillips, Javier Benitez, M Pilar Zamora, Jose Ignacio Arias Perez, Primitiva Menéndez, Anna Jakubowska, Jan Lubinski, Katarzyna Jaworska-Bieniek, Katarzyna Durda, Ute Hamann, Maria Kabisch, Hans Ulrich Ulmer, Thomas Rüdiger, Sara Margolin, Vessela Kristensen, Silje Nord, D Gareth Evans, Jean E Abraham, Helena M Earl, Louise Hiller, Janet A Dunn, Sarah Bowden, Christine Berg, Daniele Campa, W Ryan Diver, Susan M Gapstur, Mia M Gaudet, Susan E Hankinson, Robert N Hoover, Anika Hüsing, Rudolf Kaaks, Mitchell J Machiela, Walter Willett, Myrto Barrdahl, Federico Canzian, Suet-Feung Chin, Carlos Caldas, David J Hunter, Sara Lindstrom, Montserrat García-Closas, Per Hall, Douglas F Easton, Diana M Eccles, Nazneen Rahman, Heli Nevanlinna, Paul DP Pharoah, None, Identification of Novel Genetic Markers of Breast Cancer Survival Journal of the National Cancer Institute. ,vol. 107, pp. 1- 9 ,(2015) , 10.1093/JNCI/DJV081
J. Larsson, M. Forsberg, K. Brännvall, X.-Q. Zhang, M. Enarsson, F. Hedborg, K. Forsberg-Nilsson, Nuclear receptor binding protein 2 is induced during neural progenitor differentiation and affects cell survival. Molecular and Cellular Neuroscience. ,vol. 39, pp. 32- 39 ,(2008) , 10.1016/J.MCN.2008.05.013