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

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Title:	Genome-wide association study yields variants at 20p12.2 that associate with urinary bladder cancer
Author(s):	Rafnar, T.; Sulem, P.; Thorleifsson, G.; Vermeulen, S. ; Helgason, H.; Saemundsdottir, J.; Gudjonsson, S.A.; Sigurdsson, A.; Stacey, S.N.; Gudmundsson, J.; Johannsdottir, H.; Alexiusdottir, K.; Petursdottir, V.; Nikulasson, S.; Geirsson, G.; Jonsson, T.; Aben, K.K.H. ; Grotenhuis, A.J. ; Verhaegh, G.W.C.T. ; Dudek, A.M.D.; Witjes, J.A. ; Heijden, A.G. van der; Vrieling, A.; Galesloot, T.E.; Juan, A. de; Panadero, A.; Rivera, F.; Hurst, C.; Bishop, D.T.; Sak, S.C.; Choudhury, A.; Teo, M.T.; Arici, C.; Carta, A.; Toninelli, E.; Verdier, P. de; Rudnai, P.; Gurzau, E; Koppova, K.; Keur, K.A. van der; Lurkin, I.; Goossens, M.; Kellen, E.; Guarrera, S.; Russo, A.; Critelli, R.; Sacerdote, C.; Vineis, P.; Krucker, C.; Zeegers, M.P.; Gerullis, H.; Ovsiannikov, D.; Volkert, F.; Hengstler, J.G.; Selinski, S.; Magnusson, O.T.; Masson, G.; Kong, A.; Gudbjartsson, D.; Lindblom, A.; Zwarthoff, E.; Porru, S.; Golka, K.; Buntinx, F.; Matullo, G.; Kumar, R.; Mayordomo, J.I.; Steineck, D.G.; Kiltie, A.E.; Jonsson, E.; Radvanyi, F.; Knowles, M.A.; Thorsteinsdottir, U.; Kiemeney, B. ; Stefansson, K.
Publication year:	2014
Source:	Human Molecular Genetics, vol. 23, iss. 20, (2014), pp. 5545-5557
ISSN:	0964-6906
Related links:	http://www.ncbi.nlm.nih.gov/pubmed/24861552
DOI:	https://doi.org/10.1093/hmg/ddu264
Publication type:	Article / Letter to editor
Please use this identifier to cite or link to this item : http://hdl.handle.net/2066/138103
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Subject:	Radboudumc 15: Urological cancers RIHS: Radboud Institute for Health Sciences Radboudumc 15: Urological cancers RIMLS: Radboud Institute for Molecular Life Sciences Radboudumc 5: Inflammatory diseases RIHS: Radboud Institute for Health Sciences
Organization:	Health Evidence Urology Laboratory of Genetic, Endocrine and Metabolic Diseases
Journal title:	Human Molecular Genetics
Volume:	vol. 23
Issue:	iss. 20
Page start:	p. 5545
Page end:	p. 5557
Abstract:	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 x 10(-11) for rs62185668-A, minor allele frequency = 23.6%). The variants are located in a non-coding region approximately 300 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.