Sequence variant on 8q24 confers susceptibility to urinary bladder cancer

被引:327
作者
Kiemeney, Lambertus A. [1 ,2 ,3 ]
Thorlacius, Steinunn [4 ]
Sulem, Patrick [4 ]
Geller, Frank [4 ]
Aben, Katja K. H. [1 ,3 ]
Stacey, Simon N. [4 ]
Gudmundsson, Julius [4 ]
Jakobsdottir, Margret [4 ]
Bergthorsson, Jon T. [4 ]
Sigurdsson, Asgeir [4 ]
Blondal, Thorarinn [4 ]
Witjes, J. Alfred [2 ]
Vermeulen, Sita H. [1 ]
Hulsbergen-van de Kaa, Christina A. [5 ]
Swinkels, Dorine W. [6 ]
Ploeg, Martine [2 ]
Cornel, Erik B. [7 ]
Vergunst, Henk [8 ]
Thorgeirsson, Thorgeir E. [4 ]
Gudbjartsson, Daniel [4 ]
Gudjonsson, Sigurjon A. [4 ]
Thorleifsson, Gudmar [4 ]
Kristinsson, Kari T. [4 ]
Mouy, Magali [4 ]
Snorradottir, Steinunn [4 ]
Placidi, Donatella [9 ]
Campagna, Marcello [9 ]
Arici, Cecilia [9 ]
Koppova, Kvetoslava [10 ]
Gurzau, Eugene [11 ]
Rudnai, Peter [12 ]
Kellen, Eliane [13 ,14 ]
Polidoro, Silvia [15 ,16 ]
Guarrera, Simonetta [16 ]
Sacerdote, Carlotta [17 ]
Sanchez, Manuel [18 ]
Saez, Berta
Valdivia, Gabriel [19 ]
Ryk, Charlotta [20 ]
de Verdier, Petra [20 ]
Lindblom, Annika [20 ]
Golka, Klaus [21 ]
Bishop, D. Timothy [22 ]
Knowles, Margaret A. [23 ]
Nikulasson, Sigfus [24 ]
Petursdottir, Vigdis [24 ]
Jonsson, Eirikur [25 ]
Geirsson, Gudmundur [25 ]
Kristjansson, Baldvin [25 ]
Mayordomo, Jose I. [26 ,27 ]
机构
[1] Radboud Univ Nijmegen, Med Ctr, Dept Epidemiol & Biostat, NL-6500 HB Nijmegen, Netherlands
[2] Radboud Univ Nijmegen, Med Ctr, Dept Urol, NL-6500 HB Nijmegen, Netherlands
[3] Ctr Comprehens Canc E, NL-6501 BG Nijmegen, Netherlands
[4] DeCode Genet, IS-101 Reykjavik, Iceland
[5] Radboud Univ Nijmegen, Med Ctr, Dept Pathol, NL-6500 HB Nijmegen, Netherlands
[6] Radboud Univ Nijmegen, Med Ctr, Dept Clin Chem, NL-6500 HB Nijmegen, Netherlands
[7] Streekziekenhuis Midden Twente, Dept Urol, NL-7550 AM Hengelo, Netherlands
[8] Canisius Wilhelmina Ziekenhuis, Dept Urol, NL-6500 GS Nijmegen, Netherlands
[9] Univ Brescia, Dept Expt & Appl Med, Sect Occupat Med & Ind Hyg, I-25125 Brescia, Italy
[10] State Hlth Inst, SK-97556 Banska Bystrica, Slovakia
[11] Ctr Environm Hlth, Cluj Napoca 400166, Romania
[12] Natl Inst Environm Hlth, H-1450 Budapest, Hungary
[13] Catholic Univ Louvain, Dept Gen Practice, B-3000 Louvain, Belgium
[14] Catholic Univ Louvain, Ctr Canc Prevent LUCK, B-3000 Louvain, Belgium
[15] ISI Fdn, Turin, Italy
[16] Univ Turin, Dept Genet Biol & Biochem, I-10126 Turin, Italy
[17] Univ Turin, Canc Epidemiol Unit, I-10123 Turin, Italy
[18] Univ Hosp, Div Urol, Zaragoza 50009, Spain
[19] Univ Zaragoza, Sch Med, Dept Urol, E-50009 Zaragoza, Spain
[20] Karolinska Inst, Dept Mol Med & Surg, S-17176 Stockholm, Sweden
[21] Univ Dortmund, Inst Occupat Physiol, Dortmund, Germany
[22] St James Univ Hosp, Leeds Inst Mol Med, Epidemiol & Biostat Sect, Leeds LS9 7TF, W Yorkshire, England
[23] St James Univ Hosp, Leeds Inst Mol Med, Sect Expt Oncol, Leeds LS9 7TF, W Yorkshire, England
[24] Landspitali Univ Hosp, Dept Pathol, IS-101 Reykjavik, Iceland
[25] Landspitali Univ Hosp, Dept Urol, IS-101 Reykjavik, Iceland
[26] Univ Hosp, Div Med Oncol, Zaragoza 50009, Spain
[27] Hlth Sci Inst, Nanotechnol Inst Aragon, Zaragoza 50009, Spain
[28] Karolinska Hosp, Dept Oncol & Pathol, S-17176 Stockholm, Sweden
[29] Sahlgrens Univ Hosp, Dept Oncol, S-41345 Gothenburg, Sweden
[30] Maastricht Univ, Dept Gen Practice, NL-6200 MD Maastricht, Netherlands
[31] Univ Birmingham, Dept Publ Hlth & Epidemiol, Unit Genet Epidemiol, Birmingham B15 2TT, W Midlands, England
[32] Nutr & Toxicol Res Inst, Dept Complex Genet, NL-6200 MD Maastricht, Netherlands
[33] London Sch Hyg & Trop Med, London WC1E 7HT, England
[34] German Canc Res Ctr, Div Mol Genet Epidemiol, D-69120 Heidelberg, Germany
[35] Univ London Imperial Coll Sci Technol & Med, Dept Epidemiol & Publ Hlth, London W2 1PG, England
[36] Univ Iceland, Fac Med, IS-101 Reykjavik, Iceland
关键词
D O I
10.1038/ng.229
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
We conducted a genome-wide SNP association study on 1,803 urinary bladder cancer (UBC) cases and 34,336 controls from Iceland and The Netherlands and follow up studies in seven additional case-control groups (2,165 cases and 3,800 controls). The strongest association was observed with allele T of rs9642880 on chromosome 8q24, 30 kb upstream of MYC (allele-specific odds ratio (OR) = 1.22; P = 9.34 x 10(-12)). Approximately 20% of individuals of European ancestry are homozygous for rs9642880[T], and their estimated risk of developing UBC is 1.49 times that of noncarriers. No association was observed between UBC and the four 8q24 variants previously associated with prostate, colorectal and breast cancers, nor did rs9642880 associate with any of these three cancers. A weaker signal, but nonetheless of genome-wide significance, was captured by rs710521[A] located near TP63 on chromosome 3q28 (allele-specific OR = 1.19; P = 1.15 x 10(-7)).
引用
收藏
页码:1307 / 1312
页数:6
相关论文
共 30 条
[1]   Segregation analysis of urothelial cell carcinoma [J].
Aben, Katja K. H. ;
Baglietto, Laura ;
Baffoe-Bonnie, Agnes ;
Coebergh, Jan-Willem W. ;
Bailey-Wilson, Joan E. ;
Trink, Barry ;
Verbeek, Andre L. M. ;
Schoenberg, Mark P. ;
Witjes, J. Alfred ;
Kiemeney, Lambertus A. .
EUROPEAN JOURNAL OF CANCER, 2006, 42 (10) :1428-1433
[2]   Familial aggregation of urothelial cell carcinoma [J].
Aben, KKH ;
Witjes, JA ;
Schoenberg, MP ;
Hulsberger-van de Kaa, C ;
Verbeek, ALM ;
Kiemeney, LALM .
INTERNATIONAL JOURNAL OF CANCER, 2002, 98 (02) :274-278
[3]   Genome-wide association scan of tag SNPs identifies a susceptibility locus for lung cancer at 15q25.1 [J].
Amos, Christopher I. ;
Wu, Xifeng ;
Broderick, Peter ;
Gorlov, Ivan P. ;
Gu, Jian ;
Eisen, Timothy ;
Dong, Qiong ;
Zhang, Qing ;
Gu, Xiangjun ;
Vijayakrishnan, Jayaram ;
Sullivan, Kate ;
Matakidou, Athena ;
Wang, Yufei ;
Mills, Gordon ;
Doheny, Kimberly ;
Tsai, Ya-Yu ;
Chen, Wei Vivien ;
Shete, Sanjay ;
Spitz, Margaret R. ;
Houlston, Richard S. .
NATURE GENETICS, 2008, 40 (05) :616-622
[4]   A common variant associated with prostate cancer in European and African populations [J].
Amundadottir, Laufey T. ;
Sulem, Patrick ;
Gudmundsson, Julius ;
Helgason, Agnar ;
Baker, Adam ;
Agnarsson, Bjarni A. ;
Sigurdsson, Asgeir ;
Benediktsdottir, Kristrun R. ;
Cazier, Jean-Baptiste ;
Sainz, Jesus ;
Jakobsdottir, Margret ;
Kostic, Jelena ;
Magnusdottir, Droplaug N. ;
Ghosh, Shyamali ;
Agnarsson, Kari ;
Birgisdottir, Birgitta ;
Le Roux, Louise ;
Olafsdottir, Adalheidur ;
Blondal, Thorarinn ;
Andresdottir, Margret ;
Gretarsdottir, Olafia Svandis ;
Bergthorsson, Jon T. ;
Gudbjartsson, Daniel ;
Gylfason, Arnaldur ;
Thorleifsson, Gudmar ;
Manolescu, Andrei ;
Kristjansson, Kristleifur ;
Geirsson, Gudmundur ;
Isaksson, Helgi ;
Douglas, Julie ;
Johansson, Jan-Erik ;
Balter, Katarina ;
Wiklund, Fredrik ;
Montie, James E. ;
Yu, Xiaoying ;
Suarez, Brian K. ;
Ober, Carole ;
Cooney, Kathleen A. ;
Gronberg, Henrik ;
Catalona, William J. ;
Einarsson, Gudmundur V. ;
Barkardottir, Rosa B. ;
Gulcher, Jeffrey R. ;
Kong, Augustine ;
Thorsteinsdottir, Unnur ;
Stefansson, Kari .
NATURE GENETICS, 2006, 38 (06) :652-658
[5]   Cancer as a complex phenotype: Pattern of cancer distribution within and beyond the nuclear family [J].
Amundadottir, LT ;
Thorvaldsson, S ;
Gudbjartsson, DF ;
Sulem, P ;
Kristjansson, K ;
Arnason, S ;
Gulcher, JR ;
Bjornsson, J ;
Kong, A ;
Thorsteinsdottir, U ;
Stefansson, K .
PLOS MEDICINE, 2004, 1 (03) :229-236
[6]  
DEPINHO RA, 1991, ADV CANCER RES, V57, P1
[7]   Genomic control for association studies [J].
Devlin, B ;
Roeder, K .
BIOMETRICS, 1999, 55 (04) :997-1004
[8]   Genome-wide association study identifies novel breast cancer susceptibility loci [J].
Easton, Douglas F. ;
Pooley, Karen A. ;
Dunning, Alison M. ;
Pharoah, Paul D. P. ;
Thompson, Deborah ;
Ballinger, Dennis G. ;
Struewing, Jeffery P. ;
Morrison, Jonathan ;
Field, Helen ;
Luben, Robert ;
Wareham, Nicholas ;
Ahmed, Shahana ;
Healey, Catherine S. ;
Bowman, Richard ;
Meyer, Kerstin B. ;
Haiman, Christopher A. ;
Kolonel, Laurence K. ;
Henderson, Brian E. ;
Le Marchand, Loic ;
Brennan, Paul ;
Sangrajrang, Suleeporn ;
Gaborieau, Valerie ;
Odefrey, Fabrice ;
Shen, Chen-Yang ;
Wu, Pei-Ei ;
Wang, Hui-Chun ;
Eccles, Diana ;
Evans, D. Gareth ;
Peto, Julian ;
Fletcher, Olivia ;
Johnson, Nichola ;
Seal, Sheila ;
Stratton, Michael R. ;
Rahman, Nazneen ;
Chenevix-Trench, Georgia ;
Bojesen, Stig E. ;
Nordestgaard, Borge G. ;
Axelsson, Christen K. ;
Garcia-Closas, Montserrat ;
Brinton, Louise ;
Chanock, Stephen ;
Lissowska, Jolanta ;
Peplonska, Beata ;
Nevanlinna, Heli ;
Fagerholm, Rainer ;
Eerola, Hannaleena ;
Kang, Daehee ;
Yoo, Keun-Young ;
Noh, Dong-Young ;
Ahn, Sei-Hyun .
NATURE, 2007, 447 (7148) :1087-U7
[9]   Genetics of gene expression and its effect on disease [J].
Emilsson, Valur ;
Thorleifsson, Gudmar ;
Zhang, Bin ;
Leonardson, Amy S. ;
Zink, Florian ;
Zhu, Jun ;
Carlson, Sonia ;
Helgason, Agnar ;
Walters, G. Bragi ;
Gunnarsdottir, Steinunn ;
Mouy, Magali ;
Steinthorsdottir, Valgerdur ;
Eiriksdottir, Gudrun H. ;
Bjornsdottir, Gyda ;
Reynisdottir, Inga ;
Gudbjartsson, Daniel ;
Helgadottir, Anna ;
Jonasdottir, Aslaug ;
Jonasdottir, Adalbjorg ;
Styrkarsdottir, Unnur ;
Gretarsdottir, Solveig ;
Magnusson, Kristinn P. ;
Stefansson, Hreinn ;
Fossdal, Ragnheidur ;
Kristjansson, Kristleifur ;
Gislason, Hjortur G. ;
Stefansson, Tryggvi ;
Leifsson, Bjorn G. ;
Thorsteinsdottir, Unnur ;
Lamb, John R. ;
Gulcher, Jeffrey R. ;
Reitman, Marc L. ;
Kong, Augustine ;
Schadt, Eric E. ;
Stefansson, Kari .
NATURE, 2008, 452 (7186) :423-U2
[10]   The World Health Organization International Society of Urological Pathology consensus classification of urothelial (transitional cell) neoplasms of the urinary bladder [J].
Epstein, JI ;
Amin, MB ;
Reuter, VR ;
Mostofi, FK .
AMERICAN JOURNAL OF SURGICAL PATHOLOGY, 1998, 22 (12) :1435-1448