Variants in the CDKN2B and RTEL1 regions are associated with high-grade glioma susceptibility

被引：408

作者：

Wrensch, Margaret ^{[1
,2
]}

Jenkins, Robert B. ^{[3
]}

Chang, Jeffrey S. ^{[4
]}

Yeh, Ru-Fang ^{[4
]}

Xiao, Yuanyuan ^{[4
]}

Decker, Paul A. ^{[5
]}

Ballman, Karla V. ^{[5
]}

Berger, Mitchel ^{[1
]}

Buckner, Jan C. ^{[6
]}

Chang, Susan ^{[1
]}

Giannini, Caterina ^{[3
]}

Halder, Chandralekha ^{[3
]}

Kollmeyer, Thomas M. ^{[3
]}

Kosel, Matthew L. ^{[5
]}

LaChance, Daniel H. ^{[7
]}

McCoy, Lucie ^{[1
]}

O'Neill, Brian P. ^{[7
]}

Patoka, Joe ^{[1
]}

Pico, Alexander R. ^{[8
]}

Prados, Michael ^{[1
]}

Quesenberry, Charles ^{[9
]}

Rice, Terri ^{[1
]}

Rynearson, Amanda L. ^{[3
]}

Smirnov, Ivan ^{[1
]}

Tihan, Tarik ^{[10
]}

Wiemels, Joe ^{[2
,4
]}

Yang, Ping ^{[11
]}

Wiencke, John K. ^{[1
,2
]}

机构：

[1] Univ Calif San Francisco, Dept Neurol Surg, San Francisco, CA 94143 USA

[2] Univ Calif San Francisco, Inst Human Genet, San Francisco, CA 94143 USA

[3] Mayo Clin, Dept Expt Pathol, Rochester, MN USA

[4] Univ Calif San Francisco, Dept Epidemiol & Biostat, San Francisco, CA 94143 USA

[5] Mayo Clin, Div Biostat, Rochester, MN USA

[6] Mayo Clin, Dept Oncol, Rochester, MN USA

[7] Mayo Clin, Dept Neurol, Rochester, MN USA

[8] Univ Calif San Francisco, Gladstone Inst Cardiovasc Dis, San Francisco, CA 94143 USA

[9] Kaiser Permanente, Div Res, Oakland, CA USA

[10] Univ Calif San Francisco, Dept Pathol, San Francisco, CA USA

[11] Mayo Clin, Div Epidemiol, Rochester, MN USA

来源：

NATURE GENETICS | 2009年 / 41卷 / 08期

关键词：

TELOMERASE ACTIVITY; GENOME; LOCUS; TUMOR; EPIDEMIOLOGY; P15(INK4B); TRAITS; GROWTH; LENGTH; MYC;

D O I：

10.1038/ng.408

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The causes of glioblastoma and other gliomas remain obscure(1,2). To discover new candidate genes influencing glioma susceptibility, we conducted a principal component adjusted(3) genome-wide association study (GWAS) of 275,895 autosomal variants among 692 adult high-grade glioma cases (622 from the San Francisco Adult Glioma Study (AGS) and 70 from the Cancer Genome Atlas (TCGA))(4) and 3,992 controls (602 from AGS and 3,390 from Illumina iControlDB (iControls)). For replication, we analyzed the 13 SNPs with P < 10(-6) using independent data from 176 high-grade glioma cases and 174 controls from the Mayo Clinic. On 9p21, rs1412829 near CDKN2B had discovery P = 3.4 x 10(-8), replication P = 0.0038 and combined P = 1.85 x 10(-10). On 20q13.3, rs6010620 intronic to RTEL1 had discovery P = 1.5 x 10(-7), replication P = 0.00035 and combined P = 3.40 x 10(-9) . For both SNPs, the direction of association was the same in discovery and replication phases.

引用

页码：905 / U61

页数：6

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