Sequence variant on 8q24 confers susceptibility to urinary bladder cancer

Lambertus A. Kiemeney, Steinunn Thorlacius, Patrick Sulem, Frank Geller, Katja K.H. Aben, Simon N. Stacey, Julius Gudmundsson, Margret Jakobsdottir, Jon T. Bergthorsson, Asgeir Sigurdsson, Thorarinn Blondal, J. Alfred Witjes, Sita H. Vermeulen, Christina A. Hulsbergen-Van De Kaa, Dorine W. Swinkels, Martine Ploeg, Erik B. Cornel, Henk Vergunst, Thorgeir E. Thorgeirsson, Daniel GudbjartssonSigurjon A. Gudjonsson, Gudmar Thorleifsson, Kari T. Kristinsson, Magali Mouy, Steinunn Snorradottir, Donatella Placidi, Marcello Campagna, Cecilia Arici, Kvetoslava Koppova, Eugene Gurzau, Peter Rudnai, Eliane Kellen, Silvia Polidoro, Simonetta Guarrera, Carlotta Sacerdote, Manuel Sanchez, Berta Saez, Gabriel Valdivia, Charlotta Ryk, Petra De Verdier, Annika Lindblom, Klaus Golka, D. Timothy Bishop, Margaret A. Knowles, Sigfus Nikulasson, Vigdis Petursdottir, Eirikur Jonsson, Gudmundur Geirsson, Baldvin Kristjansson, Jose I. Mayordomo, Gunnar Steineck, Stefano Porru, Frank Buntinx, Maurice P. Zeegers, Tony Fletcher, Rajiv Kumar, Giuseppe Matullo, Paolo Vineis, Anne E. Kiltie, Jeffrey R. Gulcher, Unnur Thorsteinsdottir, Augustine Kong, Thorunn Rafnar, Kari Stefansson

Research output: Contribution to journalArticlepeer-review

353 Citations (Scopus)


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 × 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 × 10-7).

Original languageEnglish
Pages (from-to)1307-1312
Number of pages6
JournalNature Genetics
Issue number11
Publication statusPublished - Nov 2008

Bibliographical note

Funding Information:
We thank the individuals that participated in the study and whose contribution made this work possible. We also thank the nurses at Noatun (deCODE’s participant recruitment center) and the personnel at the deCODE core facilities. We acknowledge the Icelandic Cancer Registry for assistance in the ascertainment of the Icelandic UBC cases. Collection of samples and data in Iceland and The Netherlands was funded in part by the European Commission (POLYGENE: LSHC-CT-2005-018827 and GENADDICT: LSHM-CT-2004-005166), the National Institute of Health (R01-DA017932) and a research investment grant of the Radboud University Nijmegen Medical Centre. The Leeds Bladder Cancer Study was funded by Cancer Research UK and Yorkshire Cancer Research. Torino Bladder Cancer Case Control Study was supported by a grant to ECNIS (Environmental Cancer Risk, Nutrition and Individual Susceptibility), a network of excellence operating within the European Union 6th Framework Program, Priority 5: ‘‘Food Quality and Safety’’ (Contract No 513943); by a grant of the compagnia di San Paolo, the Italian Association for Cancer Research, Italy and the Piedmont Region Progetti di Ricerca Sanitaria Finalizzata.


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