| Literature DB >> 24861552 |
Thorunn Rafnar1, Patrick Sulem2, Gudmar Thorleifsson2, Sita H Vermeulen3, Hannes Helgason4, Jona Saemundsdottir2, Sigurjon A Gudjonsson2, Asgeir Sigurdsson2, Simon N Stacey2, Julius Gudmundsson2, Hrefna Johannsdottir2, Kristin Alexiusdottir5, Vigdis Petursdottir6, Sigfus Nikulasson6, Gudmundur Geirsson7, Thorvaldur Jonsson8, Katja K H Aben9, Anne J Grotenhuis10, Gerald W Verhaegh11, Aleksandra M Dudek11, J Alfred Witjes11, Antoine G van der Heijden11, Alina Vrieling10, Tessel E Galesloot10, Ana De Juan12, Angeles Panadero13, Fernando Rivera12, Carolyn Hurst14, D Timothy Bishop15, Sei C Sak16, Ananya Choudhury17, Mark T W Teo14, Cecilia Arici18, Angela Carta18, Elena Toninelli18, Petra de Verdier19, Peter Rudnai20, Eugene Gurzau21, Kvetoslava Koppova22, Kirstin A van der Keur23, Irene Lurkin23, Mieke Goossens24, Eliane Kellen25, Simonetta Guarrera26, Alessia Russo27, Rossana Critelli27, Carlotta Sacerdote28, Paolo Vineis29, Clémentine Krucker30, Maurice P Zeegers31, Holger Gerullis32, Daniel Ovsiannikov33, Frank Volkert34, Jan G Hengstler35, Silvia Selinski35, Olafur T Magnusson2, Gisli Masson2, Augustine Kong4, Daniel Gudbjartsson4, Annika Lindblom19, Ellen Zwarthoff23, Stefano Porru18, Klaus Golka35, Frank Buntinx36, Giuseppe Matullo27, Rajiv Kumar37, José I Mayordomo38, D Gunnar Steineck39, Anne E Kiltie40, Eirikur Jonsson7, François Radvanyi30, Margaret A Knowles14, Unnur Thorsteinsdottir41, Lambertus A Kiemeney42, Kari Stefansson43.
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 × 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.Entities:
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Year: 2014 PMID： 24861552 DOI： 10.1093/hmg/ddu264
Source DB: PubMed Journal: Hum Mol Genet ISSN： 0964-6906 Impact factor: 6.150