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

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

Hum. Mol. Genet. 20, 2897-2904 (2011)
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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.
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Publication type Article: Journal article
Document type Scientific Article
Keywords genome-wide association; glioblastoma; population; pathways; susceptibility; disease; design; cancer; genes; kora
Language english
Publication Year 2011
HGF-reported in Year 2011
ISSN (print) / ISBN 0964-6906
e-ISSN 1460-2083
Journal Human Molecular Genetics
Quellenangaben Volume: 20, Issue: 14, Pages: 2897-2904 Article Number: , Supplement: ,
Publisher Oxford University Press
Publishing Place Oxford, UK
Reviewing status Peer reviewed
Institute(s) Institute of Genetic Epidemiology (IGE)
POF-Topic(s) 30501 - Systemic Analysis of Genetic and Environmental Factors that Impact Health
Research field(s) Genetics and Epidemiology
PSP Element(s) G-504100-001
PubMed ID 21531791
DOI 10.1093/hmg/ddr192
Scopus ID 79959793196
Erfassungsdatum 2011-09-14
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