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 Glioma. The EFO term central nervous system cancer 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: central nervous system cancer

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

M Sanson, FJ Hosking, S Shete, D Zelenika, SE Dobbins, Y Ma, V Enciso-Mora, A Idbaih, JY Delattre, K Hoang-Xuan, Y Marie, B Boisselier, C Carpentier, XW Wang, AL Di Stefano, M Labussière, K Gousias, J Schramm, A Boland, D Lechner, I Gut, G Armstrong, Y Liu, R Yu, C Lau, MC Di Bernardo, LB Robertson, K Muir, S Hepworth, A Swerdlow, MJ Schoemaker, HE Wichmann, M Müller, S Schreiber, A Franke, S Moebus, L Eisele, A Försti, K Hemminki, M Lathrop, M Bondy, RS Houlston, M Simon

TITLE:

Chromosome 7p11.2 (EGFR) variation influences glioma risk.

JOURNAL:

Human molecular genetics Jul 2011, Vol 20, pp. 2897-904

ABSTRACT:

While gliomas are the most common primary brain tumors, their etiology is largely unknown. To identify novel risk loci for glioma, we conducted genome-wide association (GWA) analysis of two case-control series from France and Germany (2269 cases and 2500 controls). Pooling these data with previously reported UK and US GWA studies provided data on 4147 glioma cases and 7435 controls genotyped for 424 460 common tagging single-nucleotide polymorphisms. Using these data, we demonstrate two statistically independent associations between glioma and rs11979158 and rs2252586, at 7p11.2 which encompasses the EGFR gene (population-corrected statistics, P(c) = 7.72 × 10(-8) and 2.09 × 10(-8), respectively). Both associations were independent of tumor subtype, and were independent of EGFR amplification, p16INK4a deletion and IDH1 mutation status in tumors; compatible with driver effects of the variants on glioma development. These findings show that variation in 7p11.2 is a determinant of inherited glioma risk. PUBMED: 21531791
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