Genome-wide association study identifies five susceptibility loci for glioma

• Published in: Nature genetics Vol. 41; no. 8; pp. 899 - 904
• Main Authors: Hemminki, Kari, Andersson, Ulrika, Bergenheim, A Tommy, Linnebank, Michael, Ahlbom, Anders, Hosking, Fay J, Idbaih, Ahmed, Lau, Ching, Dobbins, Sara E, Schramm, Johannes, Houlston, Richard S, Muir, Kenneth, Lönn, Stefan, Price, Amy, Shete, Sanjay, Feychting, Maria, Malmer, Beatrice, Simon, Matthias, Schoemaker, Minouk, Marie, Yannick, Robertson, Lindsay B, Hoang-Xuan, Khe, Liu, Yanhong, Boisselier, Blandine, Lathrop, Mark, Kumar, Rajiv, Swerdlow, Anthony, Sanson, Marc, Yu, Robert, Henriksson, Roger, Hallani, Soufiane El, Delattre, Jean-Yves, Gu, Xiangjun, Bondy, Melissa, Hepworth, Sarah J, Zelenika, Diana, Armstrong, Georgina
• Format: Journal Article
• Language: English
• Published: New York Nature Publishing Group US 01.08.2009; Nature Publishing Group
• Subjects: Agriculture; Alleles; Animal Genetics and Genomics; Apoptosis; Biological and medical sciences; Biomedical and Life Sciences; Biomedicine; Brain tumors; Cancer; Cancer Research; Care and treatment; Confidence intervals; Data collection; Diagnosis; Disease susceptibility; Fundamental and applied biological sciences. Psychology; Gene Function; Gene loci; Genetic aspects; Genetic markers; Genetic Predisposition to Disease; Genetics of eukaryotes. Biological and molecular evolution; Genome-Wide Association Study; Genomics; Glioma - genetics; Gliomas; Human Genetics; Humans; Inflation; letter; Linkage Disequilibrium - genetics; Medical sciences; Medicin och hälsovetenskap; Neurology; Polymorphism, Single Nucleotide - genetics; Prognosis; Quality control; Quantitative trait loci; Reproducibility of Results; Tumors of the nervous system. Phacomatoses; United Kingdom; Tumor; Nervous system diseases; Identification; Glioma; Locus; Central nervous system disease
• ISSN: 1061-4036; 1546-1718; 1546-1718
• DOI: 10.1038/ng.407

To identify risk variants for glioma, we conducted a meta-analysis of two genome-wide association studies by genotyping 550K tagging SNPs in a total of 1,878 cases and 3,670 controls, with validation in three additional independent series totaling 2,545 cases and 2,953 controls. We identified five risk loci for glioma at 5p15.33 (rs2736100, TERT; P = 1.50 × 10−17), 8q24.21 (rs4295627, CCDC26; P = 2.34 × 10−18), 9p21.3 (rs4977756, CDKN2A-CDKN2B; P = 7.24 × 10−15), 20q13.33 (rs6010620, RTEL1; P = 2.52 × 10−12) and 11q23.3 (rs498872, PHLDB1; P = 1.07 × 10−8). These data show that common low-penetrance susceptibility alleles contribute to the risk of developing glioma and provide insight into disease causation of this primary brain tumor.