Genome-wide association study yields variants at 20p12.2 that associate with urinary bladder cancer

Thorunn Rafnar*, Patrick Sulem, Gudmar Thorleifsson, Sita H. Vermeulen, Hannes Helgason, Jona Saemundsdottir, Sigurjon A. Gudjonsson, Asgeir Sigurdsson, Simon N. Stacey, Julius Gudmundsson, Hrefna Johannsdottir, Kristin Alexiusdottir, Vigdis Petursdottir, Sigfus Nikulasson, Gudmundur Geirsson, Thorvaldur Jonsson, Katja K.H. Aben, Anne J. Grotenhuis, Gerald W. Verhaegh, Aleksandra M. DudekJ. Alfred Witjes, Antoine G. van der Heijden, Alina Vrieling, Tessel E. Galesloot, Ana De Juan, Angeles Panadero, Fernando Rivera, Carolyn Hurst, D. Timothy Bishop, Sei C. Sak, Ananya Choudhury, Mark T.W. Teo, Cecilia Arici, Angela Carta, Elena Toninelli, Petra de Verdier, Peter Rudnai, Eugene Gurzau, Kvetoslava Koppova, Kirstin A. van der Keur, Irene Lurkin, Mieke Goossens, Eliane Kellen, Simonetta Guarrera, Alessia Russo, Rossana Critelli, Carlotta Sacerdote, Paolo Vineis, Clémentine Krucker, Anne E. Kiltie

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

39 Citations (Scopus)


Genome-wide association studies (GWAS) of urinary bladder cancer (UBC) have yielded common variants at 12 loci that associate with risk of the disease. We report here the results of a GWAS of UBC including 1670 UBC cases and 90 180 controls, followed by replication analysis in additional 5266 UBC cases and 10 456 controls. We tested a dataset containing 34.2 million variants, generated by imputation based on whole-genome sequencing of 2230 Icelanders. Several correlated variants at 20p12, represented by rs62185668, show genome-wide significant association with UBC after combining discovery and replication results (OR = 1.19, P = 1.5 × 10-11 for rs62185668-A, minor allele frequency = 23.6%). The variants are located in a non-coding region approximately kb upstream from the JAG1 gene, an important component of the Notch signaling pathways that may be oncogenic or tumor suppressive in several forms of cancer. Our results add to the growing number of UBC risk variants discovered through GWAS.

Original languageEnglish
Pages (from-to)5545-5557
Number of pages13
JournalHuman Molecular Genetics
Issue number20
Publication statusPublished - 15 Nov 2014

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© The Author 2014.


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