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. 2014 Oct 15;23(20):5545-57.
doi: 10.1093/hmg/ddu264. Epub 2014 May 26.

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

Thorunn Rafnar  1 , Patrick Sulem  2 , Gudmar Thorleifsson  2 , Sita H Vermeulen  3 , Hannes Helgason  4 , Jona Saemundsdottir  2 , Sigurjon A Gudjonsson  2 , Asgeir Sigurdsson  2 , Simon N Stacey  2 , Julius Gudmundsson  2 , Hrefna Johannsdottir  2 , Kristin Alexiusdottir  5 , Vigdis Petursdottir  6 , Sigfus Nikulasson  6 , Gudmundur Geirsson  7 , Thorvaldur Jonsson  8 , Katja K H Aben  9 , Anne J Grotenhuis  10 , Gerald W Verhaegh  11 , Aleksandra M Dudek  11 , J Alfred Witjes  11 , Antoine G van der Heijden  11 , Alina Vrieling  10 , Tessel E Galesloot  10 , Ana De Juan  12 , Angeles Panadero  13 , Fernando Rivera  12 , Carolyn Hurst  14 , D Timothy Bishop  15 , Sei C Sak  16 , Ananya Choudhury  17 , Mark T W Teo  14 , Cecilia Arici  18 , Angela Carta  18 , Elena Toninelli  18 , Petra de Verdier  19 , Peter Rudnai  20 , Eugene Gurzau  21 , Kvetoslava Koppova  22 , Kirstin A van der Keur  23 , Irene Lurkin  23 , Mieke Goossens  24 , Eliane Kellen  25 , Simonetta Guarrera  26 , Alessia Russo  27 , Rossana Critelli  27 , Carlotta Sacerdote  28 , Paolo Vineis  29 , Clémentine Krucker  30 , Maurice P Zeegers  31 , Holger Gerullis  32 , Daniel Ovsiannikov  33 , Frank Volkert  34 , Jan G Hengstler  35 , Silvia Selinski  35 , Olafur T Magnusson  2 , Gisli Masson  2 , Augustine Kong  4 , Daniel Gudbjartsson  4 , Annika Lindblom  19 , Ellen Zwarthoff  23 , Stefano Porru  18 , Klaus Golka  35 , Frank Buntinx  36 , Giuseppe Matullo  27 , Rajiv Kumar  37 , José I Mayordomo  38 , D Gunnar Steineck  39 , Anne E Kiltie  40 , Eirikur Jonsson  7 , François Radvanyi  30 , Margaret A Knowles  14 , Unnur Thorsteinsdottir  41 , Lambertus A Kiemeney  42 , Kari Stefansson  43
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Free article

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

Thorunn Rafnar et al. Hum Mol Genet. .
Free article

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.

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