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 Dudek,J Alfred Witjes,Antoine G van der Heijden,Alina Vrieling,Tessel E Galesloot,Ana De Juan,Angeles Panadero, Fabian De Labastida Rivera,Carolyn D Hurst,D Timothy Bishop,Sei Chung 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,Maurice P Zeegers,Holger Gerullis,Daniel Ovsiannikov,Frank Volkert,Jan G Hengstler,Silvia Selinski,Olafur Th Magnusson,Gisli Masson,Augustine Kong,Daniel F Gudbjartsson,Annika Lindblom,Ellen C Zwarthoff,Stefano Porru,Klaus Golka,Frank Buntinx,Giuseppe Matullo,Ramandeep Kumar,José I Mayordomo, D Gunnar Steineck,Anne E Kiltie,Eirikur Jonsson,François Radvanyi,Margaret A Knowles,Unnur Thorsteinsdottir,Lambertus A Kiemeney,Kari Stefansson

HUMAN MOLECULAR GENETICS（2014）

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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.

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Key words

urinary bladder cancer,urinary bladder,genome-wide

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