CDKN2B和RTEL1区域的变异与高级别胶质瘤易感性相关。
Variants in the CDKN2B and RTEL1 regions are associated with high-grade glioma susceptibility.
作者信息
Wrensch Margaret, Jenkins Robert B, Chang Jeffrey S, Yeh Ru-Fang, Xiao Yuanyuan, Decker Paul A, Ballman Karla V, Berger Mitchel, Buckner Jan C, Chang Susan, Giannini Caterina, Halder Chandralekha, Kollmeyer Thomas M, Kosel Matthew L, LaChance Daniel H, McCoy Lucie, O'Neill Brian P, Patoka Joe, Pico Alexander R, Prados Michael, Quesenberry Charles, Rice Terri, Rynearson Amanda L, Smirnov Ivan, Tihan Tarik, Wiemels Joe, Yang Ping, Wiencke John K
机构信息
Department of Neurological Surgery, University of California, San Francisco, San Francisco, California, USA.
出版信息
Nat Genet. 2009 Aug;41(8):905-8. doi: 10.1038/ng.408. Epub 2009 Jul 5.
The causes of glioblastoma and other gliomas remain obscure. To discover new candidate genes influencing glioma susceptibility, we conducted a principal component-adjusted 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)) 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.
胶质母细胞瘤和其他神经胶质瘤的病因仍不清楚。为了发现影响神经胶质瘤易感性的新候选基因，我们对692例成年高级别神经胶质瘤病例（622例来自旧金山成人神经胶质瘤研究（AGS），70例来自癌症基因组图谱（TCGA））和3992例对照（602例来自AGS，3390例来自Illumina iControlDB（iControls））中的275,895个常染色体变异进行了主成分调整的全基因组关联研究（GWAS）。为了进行复制，我们使用来自梅奥诊所的176例高级别神经胶质瘤病例和174例对照的独立数据，分析了P < 10^(-6)的13个单核苷酸多态性（SNP）。在9号染色体短臂21区（9p21），CDKN2B附近的rs1412829在发现阶段的P值为3.4 x 10^(-8)，复制阶段的P值为0.0038，合并P值为1.85 x 10^(-10)。在20号染色体长臂13.3区（20q13.3），RTEL1内含子区域的rs6010620在发现阶段的P值为1.5 x 10^(-7)，复制阶段的P值为0.00035，合并P值为3.40 x 10^(-9)。对于这两个SNP，发现阶段和复制阶段的关联方向相同。
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