DESCRIPTION:

List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Urinary bladder cancer. The EFO term bladder carcinoma was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.

LABEL:

GWAS: bladder carcinoma

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

LA Kiemeney, P Sulem, S Besenbacher, SH Vermeulen, A Sigurdsson, G Thorleifsson, DF Gudbjartsson, SN Stacey, J Gudmundsson, C Zanon, J Kostic, G Masson, H Bjarnason, ST Palsson, OB Skarphedinsson, SA Gudjonsson, JA Witjes, AJ Grotenhuis, GW Verhaegh, DT Bishop, SC Sak, A Choudhury, F Elliott, JH Barrett, CD Hurst, PJ de Verdier, C Ryk, P Rudnai, E Gurzau, K Koppova, P Vineis, S Polidoro, S Guarrera, C Sacerdote, M Campagna, D Placidi, C Arici, MP Zeegers, E Kellen, BS Gutierrez, JI Sanz-Velez, M Sanchez-Zalabardo, G Valdivia, MD Garcia-Prats, JG Hengstler, M Blaszkewicz, H Dietrich, RA Ophoff, LH van den Berg, K Alexiusdottir, K Kristjansson, G Geirsson, S Nikulasson, V Petursdottir, A Kong, T Thorgeirsson, NA Mungan, A Lindblom, MA van Es, S Porru, F Buntinx, K Golka, JI Mayordomo, R Kumar, G Matullo, G Steineck, AE Kiltie, KK Aben, E Jonsson, U Thorsteinsdottir, MA Knowles, T Rafnar, K Stefansson

TITLE:

A sequence variant at 4p16.3 confers susceptibility to urinary bladder cancer.

JOURNAL:

Nature genetics May 2010, Vol 42, pp. 415-9

ABSTRACT:

Previously, we reported germline DNA variants associated with risk of urinary bladder cancer (UBC) in Dutch and Icelandic subjects. Here we expanded the Icelandic sample set and tested the top 20 markers from the combined analysis in several European case-control sample sets, with a total of 4,739 cases and 45,549 controls. The T allele of rs798766 on 4p16.3 was found to associate with UBC (odds ratio = 1.24, P = 9.9 x 10(-12)). rs798766 is located in an intron of TACC3, 70 kb from FGFR3, which often harbors activating somatic mutations in low-grade, noninvasive UBC. Notably, rs798766[T] shows stronger association with low-grade and low-stage UBC than with more aggressive forms of the disease and is associated with higher risk of recurrence in low-grade stage Ta tumors. The frequency of rs798766[T] is higher in Ta tumors that carry an activating mutation in FGFR3 than in Ta tumors with wild-type FGFR3. Our results show a link between germline variants, somatic mutations of FGFR3 and risk of UBC. PUBMED: 20348956
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