Genome-wide association study identifies five susceptibility loci for glioma.
Genome-wide association study identifies five susceptibility loci for glioma.
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DOI：
10.1038/ng.407
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发表时间：
2009-08
期刊：
影响因子：
30.8
通讯作者：
Houlston RS
中科院分区：
文献类型：
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作者：
Shete S;Hosking FJ;Robertson LB;Dobbins SE;Sanson M;Malmer B;Simon M;Marie Y;Boisselier B;Delattre JY;Hoang-Xuan K;El Hallani S;Idbaih A;Zelenika D;Andersson U;Henriksson R;Bergenheim AT;Feychting M;Lönn S;Ahlbom A;Schramm J;Linnebank M;Hemminki K;Kumar R;Hepworth SJ;Price A;Armstrong G;Liu Y;Gu X;Yu R;Lau C;Schoemaker M;Muir K;Swerdlow A;Lathrop M;Bondy M;Houlston RS
为了确定胶质瘤的风险变异，我们对两项全基因组关联研究进行了荟萃分析，在总共1878例病例和3670例对照中进行了550K标记snp基因分型，并在另外三个独立系列中进行了验证，总共2545例病例和2953例对照。我们确定了5个神经胶质瘤风险位点，分别为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）和11q23.3 （rs498872, PHLDB1, P = 1.07 × 10−8）。这些数据表明，常见的低外显率易感等位基因增加了发生胶质瘤的风险，并为这种原发性脑肿瘤的病因提供了见解。
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.