GeneSet Information

Tier I GS270075 • GWAS Catalog Data for bladder carcinoma in 4,501 European ancestry cases, 6,076 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:

M Garcia-Closas, Y Ye, N Rothman, JD Figueroa, N Malats, CP Dinney, N Chatterjee, L Prokunina-Olsson, Z Wang, J Lin, FX Real, KB Jacobs, D Baris, M Thun, I De Vivo, D Albanes, MP Purdue, M Kogevinas, AM Kamat, SP Lerner, HB Grossman, J Gu, X Pu, A Hutchinson, YP Fu, L Burdett, M Yeager, W Tang, A Tardón, C Serra, A Carrato, R García-Closas, J Lloreta, A Johnson, M Schwenn, MR Karagas, A Schned, G Andriole, R Grubb, A Black, EJ Jacobs, WR Diver, SM Gapstur, SJ Weinstein, J Virtamo, DJ Hunter, N Caporaso, MT Landi, JF Fraumeni, DT Silverman, SJ Chanock, X Wu

TITLE:

A genome-wide association study of bladder cancer identifies a new susceptibility locus within SLC14A1, a urea transporter gene on chromosome 18q12.3.

JOURNAL:

Human molecular genetics Nov 2011, Vol 20, pp. 4282-9

ABSTRACT:

Genome-wide and candidate-gene association studies of bladder cancer have identified 10 susceptibility loci thus far. We conducted a meta-analysis of two previously published genome-wide scans (4501 cases and 6076 controls of European background) and followed up the most significant association signals [17 single nucleotide polymorphisms (SNPs) in 10 genomic regions] in 1382 cases and 2201 controls from four studies. A combined analysis adjusted for study center, age, sex, and smoking status identified a novel susceptibility locus that mapped to a region of 18q12.3, marked by rs7238033 (P = 8.7 × 10(-9); allelic odds ratio 1.20 with 95% CI: 1.13-1.28) and two highly correlated SNPs, rs10775480/rs10853535 (r(2)= 1.00; P = 8.9 × 10(-9); allelic odds ratio 1.16 with 95% CI: 1.10-1.22). The signal localizes to the solute carrier family 14 member 1 gene, SLC14A1, a urea transporter that regulates cellular osmotic pressure. In the kidney, SLC14A1 regulates urine volume and concentration whereas in erythrocytes it determines the Kidd blood groups. Our findings suggest that genetic variation in SLC14A1 could provide new etiological insights into bladder carcinogenesis. PUBMED: 21824976
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bladder carcinoma (EFO:0000292)

Gene List • 1 Genes

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