GeneSet Information

Tier I GS269445 • GWAS Catalog Data for renal cell carcinoma in 2,215 European ancestry cases, 8,566 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 Renal cell carcinoma. The EFO term renal cell 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: renal cell carcinoma

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

M Henrion, M Frampton, G Scelo, M Purdue, Y Ye, P Broderick, A Ritchie, R Kaplan, A Meade, J McKay, M Johansson, M Lathrop, J Larkin, N Rothman, Z Wang, WH Chow, VL Stevens, W Ryan Diver, SM Gapstur, D Albanes, J Virtamo, X Wu, P Brennan, S Chanock, T Eisen, RS Houlston

TITLE:

Common variation at 2q22.3 (ZEB2) influences the risk of renal cancer.

JOURNAL:

Human molecular genetics Feb 2013, Vol 22, pp. 825-31

ABSTRACT:

Genome-wide association studies (GWASs) of renal cell cancer (RCC) have identified four susceptibility loci thus far. To identify an additional RCC common susceptibility locus, we conducted a GWAS and performed a meta-analysis with published GWASs (totalling 2215 cases and 8566 controls of European background) and followed up the most significant association signals [nine single nucleotide polymorphisms (SNPs) in eight genomic regions] in 3739 cases and 8786 controls. A combined analysis identified a novel susceptibility locus mapping to 2q22.3 marked by rs12105918 (P = 1.80 × 10(-8); odds ratio 1.29, 95% CI: 1.18-1.41). The signal localizes to intron 2 of the ZEB2 gene (zinc finger E box-binding homeobox 2). Our findings suggest that genetic variation in ZEB2 influences the risk of RCC. This finding provides further insights into the genetic and biological basis of inherited genetic susceptibility to RCC. PUBMED: 23184150
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renal cell carcinoma (EFO:0000681)

Gene List • 2 Genes

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