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Melin, Beatrice S.; Barnholtz-Sloan, Jill S.; Wrensch, Margaret R.; Johansen, Christoffer; Il'yasova, Dora; Kinnersley, Ben; Ostrom, Quinn T.; Labreche, Karim; Chen, Yanwen; Armstrong, Georgina; Liu, Yanhong; Eckel-Passow, Jeanette E.; Decker, Paul A.; Labussiere, Marianne; Idbaih, Ahmed; Hoang-Xuan, Khe; Stefano, Anna-Luisa di; Mokhtari, Karima; Delattre, Jean-Yves; Broderick, Peter; Galan, Pilar; Gousias, Konstantinos; Schramm, Johannes; Schoemaker, Minouk J.; Fleming, Sarah J.; Herms, Stefan; Heilmann, Stefanie; Nöthen, Markus M.; Wichmann, Heinz-Erich; Schreiber, Stefan; Swerdlow, Anthony; Lathrop, Mark; Simon, Matthias; Sanson, Marc; Andersson, Ulrika; Rajaraman, Preetha; Chanock, Stephen; Linet, Martha; Wang, Zhaoming; Yeager, Meredith; Wiencke, John K.; Hansen, Helen; McCoy, Lucie; Rice, Terri; Kosel, Matthew L.; Sicotte, Hugues; Amos, Christopher I.; Bernstein, Jonine L.; Davis, Faith; Lachance, Dan; Lau, Ching; Merrell, Ryan T.; Shildkraut, Joellen; Ali-Osman, Francis; Sadetzki, Siegal; Scheurer, Michael; Shete, Sanjay; Lai, Rose K.; Claus, Elizabeth B.; Olson, Sara H.; Jenkins, Robert B.; Houlston, Richard S. and Bondy, Melissa L. (2017): Genome-wide association study of glioma subtypes identifies specific differences in genetic susceptibility to glioblastoma and non-glioblastoma tumors. In: Nature Genetics, Vol. 49, No. 5: pp. 789-794

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Genome-wide association studies (GWAS) have transformed our understanding of glioma susceptibility, but individual studies have had limited power to identify risk loci. We performed a meta-analysis of existing GWAS and two new GWAS, which totaled 12,496 cases and 18,190 controls. We identified five new loci for glioblastoma (GBM) at 1p31.3 (rs12752552;P = 2.04 x 10(-9), odds ratio (OR) = 1.22), 11q14.1 (rs11233250;P = 9.95 x 10(-10), OR = 1.24), 16p13.3 (rs2562152;P = 1.93 x 10-8, OR = 1.21), 16q12.1 (rs10852606;P = 1.29 x 10(-11), OR = 1.18) and 22q13.1 (rs2235573;P = 1.76 x 10(-10), OR = 1.15), as well as eight loci for non-GBM tumors at 1q32.1 (rs4252707;P = 3.34 x 10(-9), OR = 1.19), 1q44 (rs12076373;P = 2.63 x 10(-10), OR = 1.23), 2q33.3 (rs7572263;P = 2.18 x 10(-10), OR = 1.20), 3p14.1 (rs11706832;P = 7.66 x 10(-9), OR = 1.15), 10q24.33 (rs11598018;P = 3.39 x 10-8, OR = 1.14), 11q21 (rs7107785;P = 3.87 x 10(-10), OR = 1.16), 14q12 (rs10131032;P = 5.07 x 10(-11), OR = 1.33) and 16p13.3 (rs3751667;P = 2.61 x 10(-9), OR = 1.18). These data substantiate that genetic susceptibility to GBM and non-GBM tumors are highly distinct, which likely reflects different etiology.

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