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Enciso-Mora, V.* ; Hosking, F.J.* ; Kinnersley, B.* ; Wang, Y.F.* ; Shete, S.* ; Zelenika, D.* ; Broderick, P.* ; Idbaih, A.* ; Delattre, J.-Y.* ; Hoang-Xuan, K.* ; Marie, Y.* ; di Stefano, A.L.* ; Labussière, M.* ; Dobbins, S.* ; Boisselier, B.* ; Ciccarino, P.* ; Rossetto, M.* ; Armstrong, G.* ; Liu, Y.H.* ; Gousias, K.* ; Schramm, J.* ; Lau, C.* ; Hepworth, S.J.* ; Strauch, K. ; Müller-Nurasyid, M. ; Schreiber, S.* ; Franke, A.* ; Moebus, S.* ; Eisele, L.* ; Försti, A.* ; Hemminki, K.* ; Tomlinson, I.P.* ; Swerdlow, A.* ; Lathrop, M* ; Simon, M.* ; Bondy, M.* ; Sanson, M.* ; Houlston, R.S.*

Deciphering the 8q24.21 association for glioma.

Hum. Mol. Genet. 22, 2293-2302 (2013)
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We have previously identified tagSNPs at 8q24.21 influencing glioma risk. We have sought to fine-map the location of the functional basis of this association using data from four genome-wide association studies, comprising a total of 4147 glioma cases and 7435 controls. To improve marker density across the 700 kb region, we imputed genotypes using 1000 Genomes Project data and high-coverage sequencing data generated on 253 individuals. Analysis revealed an imputed low-frequency SNP rs55705857 (P = 2.24 x 10(-38)) which was sufficient to fully capture the 8q24.21 association. Analysis by glioma subtype showed the association with rs55705857 confined to non-glioblastoma multiforme (non-GBM) tumours (P = 1.07 x 10(-67)). Validation of the non-GBM association was shown in three additional datasets (625 non-GBM cases, 2412 controls; P = 1.41 x 10(-28)). In the pooled analysis, the odds ratio for low-grade glioma associated with rs55705857 was 4.3 (P = 2.31 x 10(-94)). rs55705857 maps to a highly evolutionarily conserved sequence within the long non-coding RNA CCDC26 raising the possibility of direct functionality. These data provide additional insights into the aetiological basis of glioma development.
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Publication type Article: Journal article
Document type Scientific Article
ISSN (print) / ISBN 0964-6906
e-ISSN 1460-2083
Quellenangaben Volume: 22, Issue: 11, Pages: 2293-2302 Article Number: , Supplement: ,
Publisher Oxford University Press
Reviewing status Peer reviewed