Genome-wide association study of glioma and meta-analysis.
Genome-wide association study of glioma and meta-analysis.
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DOI：
10.1007/s00439-012-1212-0
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发表时间：
2012-12
期刊：
影响因子：
5.3
通讯作者：
Chanock, Stephen J.
中科院分区：
文献类型：
--
作者：
Rajaraman, Preetha;Melin, Beatrice S.;Wang, Zhaoming;McKean-Cowdin, Roberta;Michaud, Dominique S.;Wang, Sophia S.;Bondy, Melissa;Houlston, Richard;Jenkins, Robert B.;Wrensch, Margaret;Yeager, Meredith;Ahlbom, Anders;Albanes, Demetrius;Andersson, Ulrika;Freeman, Laura E. Beane;Buring, Julie E.;Butler, Mary Ann;Braganza, Melissa;Carreon, Tania;Feychting, Maria;Fleming, Sarah J.;Gapstur, Susan M.;Gaziano, J. Michael;Giles, Graham G.;Hallmans, Goran;Henriksson, Roger;Hoffman-Bolton, Judith;Inskip, Peter D.;Johansen, Christoffer;Kitahara, Cari M.;Lathrop, Mark;Liu, Chenwei;Le Marchand, Loic;Linet, Martha S.;Lonn, Stefan;Peters, Ulrike;Purdue, Mark P.;Rothman, Nathaniel;Ruder, Avima M.;Sanson, Marc;Sesso, Howard D.;Severi, Gianluca;Shu, Xiao-Ou;Simon, Matthias;Stampfer, Meir;Stevens, Victoria L.;Visvanathan, Kala;White, Emily;Wolk, Alicja;Zeleniuch-Jacquotte, Anne;Zheng, Wei;Decker, Paul;Enciso-Mora, Victor;Fridley, Brooke;Gao, Yu-Tang;Kosel, Matthew;Lachance, Daniel H.;Lau, Ching;Rice, Terri;Swerdlow, Anthony;Wiemels, Joseph L.;Wiencke, John K.;Shete, Sanjay;Xiang, Yong-Bing;Xiao, Yuanyuan;Hoover, Robert N.;Fraumeni, Joseph F., Jr.;Chatterjee, Nilanjan;Hartge, Patricia;Chanock, Stephen J.
胶质瘤约占所有原发性恶性脑肿瘤的80%，尽管过去20年来临床护理有所改善，但胶质瘤仍然是最致命的肿瘤之一，这强调了获得可转化为临床进步的新见解的必要性。最近的全基因组关联研究（GWAS）已经确定了七个新的易感区域。我们进行了一项新的神经胶质瘤独立GWAS，包括1,856例病例和4,955例对照（来自14项队列研究，3项病例对照研究和1项基于人群的仅病例研究），并发现了先前报道的7种相关性中的3种在20q13.33（RTEL），5p15.33（TERT）和9p21.3的强复制证据。（CDKN 2BAS），其余四个在7p11.2（EGFR两个基因座），8q24.21（CCDC 26）和11q23.3（PHLDB 1）的相关信号一致。来自队列研究和病例对照研究的样本的信号的方向和幅度是一致的，但是位点rs6010620的关联强度更明显（20q，13.33; RTEL）和rs 2736100（5p15.33，TERT），尽管该组病例数较少，这可能是由于在队列研究中捕获了相对更多的更高级别的肿瘤。我们在三个重复集（5，015例病例和11，601例对照）中进一步检查了我们研究中发现的85个最有希望的单核苷酸多态性（SNP）标记，但没有新标记达到全基因组意义。我们的研究结果表明，需要更大规模的研究，重点是新的方法以及特定的肿瘤亚型或亚组，以确定胶质瘤风险的其他常见易感基因座。
Gliomas account for approximately 80% of all primary malignant brain tumors, and despite improvements in clinical care over the last 20 years remain among the most lethal tumors, underscoring the need for gaining new insights that could translate into clinical advances. Recent genome-wide association studies (GWAS) have identified seven new susceptibility regions. We conducted a new independent GWAS of glioma using 1,856 cases and 4,955 controls (from 14 cohort studies, 3 casecontrol studies, and 1 population-based case only study) and found evidence of strong replication for three of the seven previously reported associations at 20q13.33 (RTEL), 5p15.33 (TERT), and 9p21.3 (CDKN2BAS), and consistent association signals for the remaining four at 7p11.2 (EGFR both loci), 8q24.21 (CCDC26) and 11q23.3 (PHLDB1). The direction and magnitude of the signal were consistent for samples from cohort and case-control studies, but the strength of the association was more pronounced for loci rs6010620 (20q,13.33; RTEL) and rs2736100 (5p15.33, TERT) in cohort studies despite the smaller number of cases in this group, likely due to relatively more higher grade tumors being captured in the cohort studies. We further examined the 85 most promising single nucleotide polymorphism (SNP) markers identified in our study in three replication sets (5,015 cases and 11,601 controls), but no new markers reached genome-wide significance. Our findings suggest that larger studies focusing on novel approaches as well as specific tumor subtypes or subgroups will be required to identify additional common susceptibility loci for glioma risk.
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影响因子：
30.8
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
通讯作者：
Houlston RS
影响因子：
3.8
作者：
Scheurer, Michael E.;Etzel, Carol J.;Bondy, Melissa L.
通讯作者：
Bondy, Melissa L.
影响因子：
30.8
作者：
通讯作者：
--
影响因子：
50.3
作者：
Phillips, HS;Kharbanda, S;Aldape, K
通讯作者：
Aldape, K
影响因子：
6.4
作者：
Malmer, B;Henriksson, R;Grönberg, H
通讯作者：
Grönberg, H