GeneSet Information

Tier I GS270473 • GWAS Catalog Data for bladder carcinoma in 2,234 European ancestry cases, 41,603 European ancestry controls

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 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:

T Rafnar, SH Vermeulen, P Sulem, G Thorleifsson, KK Aben, JA Witjes, AJ Grotenhuis, GW Verhaegh, CA Hulsbergen-van de Kaa, S Besenbacher, D Gudbjartsson, SN Stacey, J Gudmundsson, H Johannsdottir, H Bjarnason, C Zanon, H Helgadottir, JG Jonasson, L Tryggvadottir, E Jonsson, G Geirsson, S Nikulasson, V Petursdottir, DT Bishop, S Chung-Sak, A Choudhury, F Elliott, JH Barrett, MA Knowles, PJ de Verdier, C Ryk, A Lindblom, P Rudnai, E Gurzau, K Koppova, P Vineis, S Polidoro, S Guarrera, C Sacerdote, A Panadero, JI Sanz-Velez, M Sanchez, G Valdivia, MD Garcia-Prats, JG Hengstler, S Selinski, H Gerullis, D Ovsiannikov, A Khezri, A Aminsharifi, M Malekzadeh, LH van den Berg, RA Ophoff, JH Veldink, MP Zeegers, E Kellen, J Fostinelli, D Andreoli, C Arici, S Porru, F Buntinx, A Ghaderi, K Golka, JI Mayordomo, G Matullo, R Kumar, G Steineck, AE Kiltie, A Kong, U Thorsteinsdottir, K Stefansson, LA Kiemeney

TITLE:

European genome-wide association study identifies SLC14A1 as a new urinary bladder cancer susceptibility gene.

JOURNAL:

Human molecular genetics Nov 2011, Vol 20, pp. 4268-81

ABSTRACT:

Three genome-wide association studies in Europe and the USA have reported eight urinary bladder cancer (UBC) susceptibility loci. Using extended case and control series and 1000 Genomes imputations of 5 340 737 single-nucleotide polymorphisms (SNPs), we searched for additional loci in the European GWAS. The discovery sample set consisted of 1631 cases and 3822 controls from the Netherlands and 603 cases and 37 781 controls from Iceland. For follow-up, we used 3790 cases and 7507 controls from 13 sample sets of European and Iranian ancestry. Based on the discovery analysis, we followed up signals in the urea transporter (UT) gene SLC14A. The strongest signal at this locus was represented by a SNP in intron 3, rs17674580, that reached genome-wide significance in the overall analysis of the discovery and follow-up groups: odds ratio = 1.17, P = 7.6 × 10(-11). SLC14A1 codes for UTs that define the Kidd blood group and are crucial for the maintenance of a constant urea concentration gradient in the renal medulla and, through this, the kidney's ability to concentrate urine. It is speculated that rs17674580, or other sequence variants in LD with it, indirectly modifies UBC risk by affecting urine production. If confirmed, this would support the 'urogenous contact hypothesis' that urine production and voiding frequency modify the risk of UBC. PUBMED: 21750109
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bladder carcinoma (EFO:0000292)

Gene List • 1 Genes

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