Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array

被引:446
作者
Eeles, Rosalind A. [1 ,2 ,3 ]
Al Olama, Ali Amin [4 ]
Benlloch, Sara [4 ]
Saunders, Edward J. [1 ]
Leongamornlert, Daniel A. [1 ]
Tymrakiewicz, Malgorzata [1 ]
Ghoussaini, Maya [4 ]
Luccarini, Craig [4 ]
Dennis, Joe [4 ]
Jugurnauth-Little, Sarah [1 ]
Dadaev, Tokhir [1 ]
Neal, David E. [5 ,6 ]
Hamdy, Freddie C. [7 ,8 ]
Donovan, Jenny L. [9 ]
Muir, Ken [10 ,11 ]
Giles, Graham G. [12 ,13 ]
Severi, Gianluca [12 ,13 ]
Wiklund, Fredrik [14 ]
Gronberg, Henrik [14 ]
Haiman, Christopher A. [15 ]
Schumacher, Fredrick [15 ]
Henderson, Brian E. [15 ]
Le Marchand, Loic [16 ]
Lindstrom, Sara [17 ]
Kraft, Peter [17 ]
Hunter, David J. [17 ]
Gapstur, Susan [18 ]
Chanock, Stephen J. [19 ]
Berndt, Sonja I. [19 ]
Albanes, Demetrius [20 ]
Andriole, Gerald [21 ]
Schleutker, Johanna [22 ,23 ,24 ]
Weischer, Maren [25 ]
Canzian, Federico [26 ]
Riboli, Elio [27 ]
Key, Tim J. [28 ]
Travis, Ruth C. [28 ]
Campa, Daniele [26 ]
Ingles, Sue A. [15 ]
John, Esther M. [29 ,30 ,31 ]
Hayes, Richard B. [32 ]
Pharoah, Paul D. P. [4 ]
Pashayan, Nora [4 ]
Khaw, Kay-Tee [33 ]
Stanford, Janet L. [34 ,35 ]
Ostrander, Elaine A. [36 ]
Signorello, Lisa B. [37 ,38 ]
Thibodeau, Stephen N. [39 ]
Schaid, Dan [40 ]
Maier, Christiane [41 ,42 ]
机构
[1] Inst Canc Res, Sutton, Surrey, England
[2] Royal Marsden Natl Hlth Serv NHS Fdn, London, England
[3] Royal Marsden Natl Hlth Serv NHS Fdn, Sutton, Surrey, England
[4] Univ Cambridge, Dept Oncol, Ctr Canc Genet Epidemiol, Cambridge, England
[5] Univ Cambridge, Addenbrookes Hosp, Cambridge CB2 2QQ, England
[6] Canc Res UK Cambridge Res Inst, Li Ka Shing Ctr, Cambridge, England
[7] Univ Oxford, Nuffield Dept Surg Sci, Oxford, England
[8] Univ Oxford, John Radcliffe Hosp, Fac Med Sci, Oxford OX3 9DU, England
[9] Univ Bristol, Sch Social & Community Med, Bristol, Avon, England
[10] Univ Warwick, Warwick Med Sch, Coventry CV4 7AL, W Midlands, England
[11] Univ Manchester, Inst Populat Hlth, Manchester, Lancs, England
[12] Canc Council Victoria, Canc Epidemiol Ctr, Carlton, Vic, Australia
[13] Univ Melbourne, Ctr Mol Environm Genet & Analyt Epidemiol, Melbourne, Vic, Australia
[14] Karolinska Inst, Dept Med Epidemiol & Biostat, Stockholm, Sweden
[15] Univ So Calif, Kenneth Norris Jr Comprehens Canc Ctr, Keck Sch Med, Dept Prevent Med, Los Angeles, CA 90033 USA
[16] Univ Hawaii, Ctr Canc, Honolulu, HI 96822 USA
[17] Harvard Univ, Sch Publ Hlth, Dept Epidemiol, Program Mol & Genet Epidemiol, Boston, MA 02115 USA
[18] Amer Canc Soc, Epidemiol Res Program, Atlanta, GA 30329 USA
[19] NCI, Div Canc Epidemiol & Genet, US Natl Inst Hlth NIH, Bethesda, MD 20892 USA
[20] NCI, Nutr Epidemiol Branch, US NIH, Bethesda, MD 20892 USA
[21] Washington Univ, Sch Med, Div Urol Surg, St Louis, MO 63110 USA
[22] Univ Tampere, Inst Biomed Technol BioMediTech, FIN-33101 Tampere, Finland
[23] FimLab Labs, Tampere, Finland
[24] Univ Turku, Dept Med Biochem & Genet, Turku, Finland
[25] Copenhagen Univ Hosp, Herlev Hosp, Dept Clin Biochem, Herlev, Denmark
[26] German Canc Res Ctr, Genom Epidemiol Grp, Heidelberg, Germany
[27] Univ London Imperial Coll Sci Technol & Med, Sch Publ Hlth, Dept Epidemiol & Biostat, London, England
[28] Univ Oxford, Nuffield Dept Clin Med, Canc Epidemiol Unit, Oxford, England
[29] Canc Prevent Inst Calif, Fremont, CA USA
[30] Stanford Univ, Sch Med, Stanford Canc Inst, Stanford, CA 94305 USA
[31] Stanford Univ, Sch Med, Div Epidemiol, Dept Hlth Res & Policy, Stanford, CA 94305 USA
[32] NYU, Dept Environm Med, Langone Med Ctr, Div Epidemiol, New York, NY 10016 USA
[33] Univ Cambridge, Clin Gerontol Unit, Cambridge, England
[34] Fred Hutchinson Canc Res Ctr, Div Publ Hlth Sci, Seattle, WA 98104 USA
[35] Univ Washington, Sch Publ Hlth, Dept Epidemiol, Seattle, WA 98195 USA
[36] NHGRI, US NIH, Bethesda, MD 20892 USA
[37] Int Epidemiol Inst, Rockville, MD USA
[38] Vanderbilt Univ, Sch Med, Dept Med,Div Epidemiol, Vanderbilt Epidemiol Ctr,Vanderbilt Ingram Canc C, Nashville, TN 37212 USA
[39] Mayo Clin, Dept Lab Med & Pathol, Rochester, MN USA
[40] Mayo Clin, Dept Hlth Sci Res, Div Biomed Stat & Informat, Rochester, MN USA
[41] Univ Hosp Ulm, Dept Urol, Ulm, Germany
[42] Univ Hosp Ulm, Inst Human Genet, Ulm, Germany
[43] Brigham & Womens Hosp, Div Urol Surg, Dana Farber Canc Inst, Boston, MA 02115 USA
[44] Pomeranian Med Univ, Int Hereditary Canc Ctr, Dept Genet & Pathol, Szczecin, Poland
[45] Univ Utah, Sch Med, Dept Med, Div Genet Epidemiol, Salt Lake City, UT USA
[46] George E Wahlen Dept Vet Affairs Med Ctr, Salt Lake City, UT USA
[47] DKFZ, Div Clin Epidemiol & Aging Res, Heidelberg, Germany
[48] Univ S Florida, H Lee Moffitt Canc Ctr, Div Canc Prevent & Control, Tampa, FL 33682 USA
[49] Med Univ Sofia, Mol Med Ctr, Dept Med Chem & Biochem, Sofia, Bulgaria
[50] Queensland Univ Technol, Australian Prostate Canc Res Ctr, Queensland Inst Hlth & Biomed Innovat, Brisbane, Qld 4001, Australia
基金
英国医学研究理事会;
关键词
GENOME-WIDE ASSOCIATION; VARIANTS; HOXB13; PREDISPOSITION; MUTATIONS; MEN;
D O I
10.1038/ng.2560
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Prostate cancer is the most frequently diagnosed cancer in males in developed countries. To identify common prostate cancer susceptibility alleles, we genotyped 211,155 SNPs on a custom II lumina array (iCOGS) in blood DNA from 25,074 prostate cancer cases and 24,272 controls from the international PRACTICAL Consortium. Twenty-three new prostate cancer susceptibility loci were identified at genomewide significance (P < 5 x 10(-8)). More than 70 prostate cancer susceptibility loci, explaining similar to 30% of the familial risk for this disease, have now been identified. On the basis of combined risks conferred by the new and previously known risk loci, the top 1% of the risk distribution has a 4.7-fold higher risk than the average of the population being profiled. These results will facilitate population risk stratification for clinical studies.
引用
收藏
页码:385 / 391
页数:7
相关论文
共 29 条
[1]   Common variants at 11q12, 10q26 and 3p11.2 are associated with prostate cancer susceptibility in Japanese [J].
Akamatsu, Shusuke ;
Takata, Ryo ;
Haiman, Christopher A. ;
Takahashi, Atsushi ;
Inoue, Takahiro ;
Kubo, Michiaki ;
Furihata, Mutsuo ;
Kamatani, Naoyuki ;
Inazawa, Johji ;
Chen, Gary K. ;
Le Marchand, Loic ;
Kolonel, Laurence N. ;
Katoh, Takahiko ;
Yamano, Yuko ;
Yamakado, Minoru ;
Takahashi, Hiroyuki ;
Yamada, Hiroki ;
Egawa, Shin ;
Fujioka, Tomoaki ;
Henderson, Brian E. ;
Habuchi, Tomonori ;
Ogawa, Osamu ;
Nakamura, Yusuke ;
Nakagawa, Hidewaki .
NATURE GENETICS, 2012, 44 (04) :426-U234
[2]   A meta-analysis of genome-wide association studies to identify prostate cancer susceptibility loci associated with aggressive and non-aggressive disease [J].
Al Olama, Ali Amin ;
Kote-Jarai, Zsofia ;
Schumacher, Fredrick R. ;
Wiklund, Fredrik ;
Berndt, Sonja I. ;
Benlloch, Sara ;
Giles, Graham G. ;
Severi, Gianluca ;
Neal, David E. ;
Hamdy, Freddie C. ;
Donovan, Jenny L. ;
Hunter, David J. ;
Henderson, Brian E. ;
Thun, Michael J. ;
Gaziano, Michael ;
Giovannucci, Edward L. ;
Siddiq, Afshan ;
Travis, Ruth C. ;
Cox, David G. ;
Canzian, Federico ;
Riboli, Elio ;
Key, Timothy J. ;
Andriole, Gerald ;
Albanes, Demetrius ;
Hayes, Richard B. ;
Schleutker, Johanna ;
Auvinen, Anssi ;
Tammela, Teuvo L. J. ;
Weischer, Maren ;
Stanford, Janet L. ;
Ostrander, Elaine A. ;
Cybulski, Cezary ;
Lubinski, Jan ;
Thibodeau, Stephen N. ;
Schaid, Daniel J. ;
Sorensen, Karina D. ;
Batra, Jyotsna ;
Clements, Judith A. ;
Chambers, Suzanne ;
Aitken, Joanne ;
Gardiner, Robert A. ;
Maier, Christiane ;
Vogel, Walther ;
Doerk, Thilo ;
Brenner, Hermann ;
Habuchi, Tomonori ;
Ingles, Sue ;
John, Esther M. ;
Dickinson, Joanne L. ;
Cannon-Albright, Lisa .
HUMAN MOLECULAR GENETICS, 2013, 22 (02) :408-415
[3]   Exome sequencing identifies recurrent SPOP, FOXA1 and MED12 mutations in prostate cancer [J].
Barbieri, Christopher E. ;
Baca, Sylvan C. ;
Lawrence, Michael S. ;
Demichelis, Francesca ;
Blattner, Mirjam ;
Theurillat, Jean-Philippe ;
White, Thomas A. ;
Stojanov, Petar ;
Van Allen, Eliezer ;
Stransky, Nicolas ;
Nickerson, Elizabeth ;
Chae, Sung-Suk ;
Boysen, Gunther ;
Auclair, Daniel ;
Onofrio, Robert C. ;
Park, Kyung ;
Kitabayashi, Naoki ;
MacDonald, Theresa Y. ;
Sheikh, Karen ;
Vuong, Terry ;
Guiducci, Candace ;
Cibulskis, Kristian ;
Sivachenko, Andrey ;
Carter, Scott L. ;
Saksena, Gordon ;
Voet, Douglas ;
Hussain, Wasay M. ;
Ramos, Alex H. ;
Winckler, Wendy ;
Redman, Michelle C. ;
Ardlie, Kristin ;
Tewari, Ashutosh K. ;
Mosquera, Juan Miguel ;
Rupp, Niels ;
Wild, Peter J. ;
Moch, Holger ;
Morrissey, Colm ;
Nelson, Peter S. ;
Kantoff, Philip W. ;
Gabriel, Stacey B. ;
Golub, Todd R. ;
Meyerson, Matthew ;
Lander, Eric S. ;
Getz, Gad ;
Rubin, Mark A. ;
Garraway, Levi A. .
NATURE GENETICS, 2012, 44 (06) :685-U107
[4]  
Breast Canc Linkage Consortium, 1999, JNCI-J NATL CANCER I, V91, P1310
[5]   Co-expression of the androgen receptor and the transcription factor ZNF652 is related to prostate cancer outcome [J].
Callen, David F. ;
Ricciardelli, Carmela ;
Butler, Miriam ;
Stapleton, Alan ;
Stahl, Jurgen ;
Kench, James G. ;
Horsfall, David J. ;
Tilley, Wayne D. ;
Schulz, Renee ;
Nesland, Jahn M. ;
Neilsen, Paul M. ;
Kumar, Raman ;
Holm, Ruth .
ONCOLOGY REPORTS, 2010, 23 (04) :1045-1052
[6]   Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk [J].
Couch, Fergus J. ;
Wang, Xianshu ;
McGuffog, Lesley ;
Lee, Andrew ;
Olswold, Curtis ;
Kuchenbaecker, Karoline B. ;
Soucy, Penny ;
Fredericksen, Zachary ;
Barrowdale, Daniel ;
Dennis, Joe ;
Gaudet, Mia M. ;
Dicks, Ed ;
Kosel, Matthew ;
Healey, Sue ;
Sinilnikova, Olga M. ;
Lee, Adam ;
Bacot, Francois ;
Vincent, Daniel ;
Hogervorst, Frans B. L. ;
Peock, Susan ;
Stoppa-Lyonnet, Dominique ;
Jakubowska, Anna ;
Radice, Paolo ;
Schmutzler, Rita Katharina ;
Domchek, Susan M. ;
Piedmonte, Marion ;
Singer, Christian F. ;
Friedman, Eitan ;
Thomassen, Mads ;
Hansen, Thomas V. O. ;
Neuhausen, Susan L. ;
Szabo, Csilla I. ;
Blanco, Ignacio ;
Greene, Mark H. ;
Karlan, Beth Y. ;
Garber, Judy ;
Phelan, Catherine M. ;
Weitzel, Jeffrey N. ;
Montagna, Marco ;
Olah, Edith ;
Andrulis, Irene L. ;
Godwin, Andrew K. ;
Yannoukakos, Drakoulis ;
Goldgar, David E. ;
Caldes, Trinidad ;
Nevanlinna, Heli ;
Osorio, Ana ;
Terry, Mary Beth ;
Daly, Mary B. ;
van Rensburg, Elizabeth J. .
PLOS GENETICS, 2013, 9 (03)
[7]   An integrated encyclopedia of DNA elements in the human genome [J].
Dunham, Ian ;
Kundaje, Anshul ;
Aldred, Shelley F. ;
Collins, Patrick J. ;
Davis, CarrieA. ;
Doyle, Francis ;
Epstein, Charles B. ;
Frietze, Seth ;
Harrow, Jennifer ;
Kaul, Rajinder ;
Khatun, Jainab ;
Lajoie, Bryan R. ;
Landt, Stephen G. ;
Lee, Bum-Kyu ;
Pauli, Florencia ;
Rosenbloom, Kate R. ;
Sabo, Peter ;
Safi, Alexias ;
Sanyal, Amartya ;
Shoresh, Noam ;
Simon, Jeremy M. ;
Song, Lingyun ;
Trinklein, Nathan D. ;
Altshuler, Robert C. ;
Birney, Ewan ;
Brown, James B. ;
Cheng, Chao ;
Djebali, Sarah ;
Dong, Xianjun ;
Dunham, Ian ;
Ernst, Jason ;
Furey, Terrence S. ;
Gerstein, Mark ;
Giardine, Belinda ;
Greven, Melissa ;
Hardison, Ross C. ;
Harris, Robert S. ;
Herrero, Javier ;
Hoffman, Michael M. ;
Iyer, Sowmya ;
Kellis, Manolis ;
Khatun, Jainab ;
Kheradpour, Pouya ;
Kundaje, Anshul ;
Lassmann, Timo ;
Li, Qunhua ;
Lin, Xinying ;
Marinov, Georgi K. ;
Merkel, Angelika ;
Mortazavi, Ali .
NATURE, 2012, 489 (7414) :57-74
[8]   Expression analysis onto microarrays of randomly selected cDNA clones highlights HOXB13 as a marker of human prostate cancer [J].
Edwards, S ;
Campbell, C ;
Flohr, P ;
Shipley, J ;
Giddings, I ;
te-Poele, R ;
Dodson, A ;
Foster, C ;
Clark, J ;
Jhavar, S ;
Kovacs, G ;
Cooper, CS .
BRITISH JOURNAL OF CANCER, 2005, 92 (02) :376-381
[9]   Germline Mutations in HOXB13 and Prostate-Cancer Risk [J].
Ewing, Charles M. ;
Ray, Anna M. ;
Lange, Ethan M. ;
Zuhlke, Kimberly A. ;
Robbins, Christiane M. ;
Tembe, Waibhav D. ;
Wiley, Kathleen E. ;
Isaacs, Sarah D. ;
Johng, Dorhyun ;
Wang, Yunfei ;
Bizon, Chris ;
Yan, Guifang ;
Gielzak, Marta ;
Partin, Alan W. ;
Shanmugam, Vijayalakshmi ;
Izatt, Tyler ;
Sinari, Shripad ;
Craig, David W. ;
Zheng, S. Lilly ;
Walsh, Patrick C. ;
Montie, James E. ;
Xu, Jianfeng ;
Carpten, John D. ;
Isaacs, William B. ;
Cooney, Kathleen A. .
NEW ENGLAND JOURNAL OF MEDICINE, 2012, 366 (02) :141-149
[10]   Genome-wide association studies identify four ER negative-specific breast cancer risk loci [J].
Garcia-Closas, Montserrat ;
Couch, Fergus J. ;
Lindstrom, Sara ;
Michailidouo, Kyriaki ;
Schmidt, Marjanka K. ;
Brook, Mark N. ;
Orr, Nick ;
Rhie, Suhn Kyong ;
Riboli, Elio ;
Feigelson, Heather S. ;
Le Marchand, Loic ;
Buring, Julie E. ;
Eccles, Diana ;
Miron, Penelope ;
Fasching, Peter A. ;
Brauch, Hiltrud ;
Chang-Claude, Jenny ;
Carpenter, Jane ;
Godwin, Andrew K. ;
Nevanlinna, Heli ;
Giles, Graham G. ;
Cox, Angela ;
Hopper, John L. ;
Bolla, Manjeet K. ;
Wang, Qin ;
Dennis, Joe ;
Dicks, Ed ;
Howat, Will J. ;
Schoof, Nils ;
Bojesen, Stig E. ;
Lambrechts, Diether ;
Broeks, Annegien ;
Andrulis, Irene L. ;
Guenel, Pascal ;
Burwinkel, Barbara ;
Sawyer, Elinor J. ;
Hollestelle, Antoinette ;
Fletcher, Olivia ;
Winqvist, Robert ;
Brenner, Hermann ;
Mannermaa, Arto ;
Hamann, Ute ;
Meindl, Alfons ;
Lindblom, Annika ;
Zheng, Wei ;
Devillee, Peter ;
Goldberg, Mark S. ;
Lubinski, Jan ;
Kristensen, Vessela ;
Swerdlow, Anthony .
NATURE GENETICS, 2013, 45 (04) :392-398