Genome-wide association study of glioma and meta-analysis
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- 作者：Preetha Rajaraman (1) (40)
Beatrice S. Melin (2)
Zhaoming Wang (1) (3)
Roberta McKean-Cowdin (4)
Dominique S. Michaud (5) (6)
Sophia S. Wang (7)
Melissa Bondy (8)
Richard Houlston (9)
Robert B. Jenkins (10)
Margaret Wrensch (11)
Meredith Yeager (1) (3)
Anders Ahlbom (12)
Demetrius Albanes (1)
Ulrika Andersson (2)
Laura E. Beane Freeman (1)
Julie E. Buring (13)
Mary Ann Butler (14)
Melissa Braganza (1)
Tania Carreon (14)
Maria Feychting (12)
Sarah J. Fleming (15)
Susan M. Gapstur (16)
J. Michael Gaziano (13) (17)
Graham G. Giles (18) (19)
Goran Hallmans (20)
Roger Henriksson (2)
Judith Hoffman-Bolton (21)
Peter D. Inskip (1)
Christoffer Johansen (22)
Cari M. Kitahara (1)
Mark Lathrop (23) (24)
Chenwei Liu (3)
Loic Le Marchand (25)
Martha S. Linet (1)
Stefan Lonn (12) (26)
Ulrike Peters (27) (28)
Mark P. Purdue (1)
Nathaniel Rothman (1)
Avima M. Ruder (14)
Marc Sanson (29)
Howard D. Sesso (13)
Gianluca Severi (18) (19)
Xiao-Ou Shu (30)
Matthias Simon (31)
Meir Stampfer (32) (33)
Victoria L. Stevens (16)
Kala Visvanathan (21) (34)
Emily White (27) (28)
Alicja Wolk (35)
Anne Zeleniuch-Jacquotte (36)
Wei Zheng (30)
Paul Decker (10)
Victor Enciso-Mora (9)
Brooke Fridley (10)
Yu-Tang Gao (37)
Matthew Kosel (10)
Daniel H. Lachance (10)
Ching Lau (8)
Terri Rice (11)
Anthony Swerdlow (38) (9)
Joseph L. Wiemels (11)
John K. Wiencke (11)
Sanjay Shete (39)
Yong-Bing Xiang (37)
Yuanyuan Xiao (11)
Robert N. Hoover (1)
Joseph F. Fraumeni Jr. (1)
Nilanjan Chatterjee (1)
Patricia Hartge (1)
Stephen J. Chanock (1) (3) - 刊名：Human Genetics
- 出版年：2012
- 出版时间：December 2012
- 年：2012
- 卷：131
- 期：12
- 页码：1877-1888
- 全文大小：299KB
- 参考文献：1. Bondy ML, Scheurer ME, Malmer B, Barnholtz-Sloan JS, Davis FG, Il’yasova D, Kruchko C, McCarthy BJ, Rajaraman P, Schwartzbaum JA, Sadetzki S, Schlehofer B, Tihan T, Wiemels JL, Wrensch M, Buffler PA (2008) Brain tumor epidemiology: consensus from the Brain Tumor Epidemiology Consortium. Cancer 113:1953-968 CrossRef
2. CBTRUS (2012) CBTRUS Statistical report: primary brain and central nervous system tumors diagnosed in the United States in 2004-008. Central Brain Tumor Registry of the United States (CBTRUS), Chicago, Illinois
3. Cancer Genome Atlas Research Network (2008) Comprehensive genomic characterization defines human glioblastoma genes and core pathways. Nature 455:1061-068
4. Egan KM, Thompson RC, Nabors LB, Olson JJ, Brat DJ, Larocca RV, Brem S, Moots PL, Madden MH, Browning JE, Ann Chen Y (2011) Cancer susceptibility variants and the risk of adult glioma in a US case–control study. J Neurooncol 104:535-42
5. Falush D, Stephens M, Pritchard JK (2007) Inference of population structure using multilocus genotype data: dominant markers and null alleles. Mol Ecol Notes 7:574-78 CrossRef
6. Farrell CJ, Plotkin SR (2007) Genetic causes of brain tumors: neurofibromatosis, tuberous sclerosis, von Hippel-Lindau, and other syndromes. Neurol Clin 25:925-46 (viii)
7. Hemminki K, Tretli S, Sundquist J, Johannesen TB, Granstrom C (2009) Familial risks in nervous-system tumours: a histology-specific analysis from Sweden and Norway. Lancet Oncol 10:481-88 CrossRef
8. Hunter DJ, Kraft P, Jacobs KB, Cox DG, Yeager M, Hankinson SE, Wacholder S, Wang Z, Welch R, Hutchinson A, Wang J, Yu K, Chatterjee N, Orr N, Willett WC, Colditz GA, Ziegler RG, Berg CD, Buys SS, McCarty CA, Feigelson HS, Calle EE, Thun MJ, Hayes RB, Tucker M, Gerhard DS, Fraumeni JF Jr, Hoover RN, Thomas G, Chanock SJ (2007) A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer. Nat Genet 39:870-74 CrossRef
9. ICD-O (2000) International Classification of Diseases for Oncology, 3rd edn. World Heath Organization, Geneva
10. Jenkins RB, Wrensch MR, Johnson D, Fridley BL, Decker PA, Xiao Y, Kollmeyer TM, Rynearson AL, Fink S, Rice T, McCoy LS, Halder C, Kosel ML, Giannini C, Tihan T, O’Neill BP, Lachance DH, Yang P, Wiemels J, Wiencke JK (2011) Distinct germ line polymorphisms underlie glioma morphologic heterogeneity. Cancer Genet 204:13-8 CrossRef
11. Kohler BA, Ward E, McCarthy BJ, Schymura MJ, Ries LA, Eheman C, Jemal A, Anderson RN, Ajani UA, Edwards BK (2011) Annual report to the nation on the status of cancer, 1975-007, featuring tumors of the brain and other nervous system. J Natl Cancer Inst 103:714-36 CrossRef
12. Lachance DH, Yang P, Johnson DR, Decker PA, Kollmeyer TM, McCoy LS, Rice T, Xiao Y, Ali-Osman F, Wang F, Stoddard SM, Sprau DJ, Kosel ML, Wiencke JK, Wiemels JL, Patoka JS, Davis F, McCarthy B, Rynearson AL, Worra JB, Fridley BL, O’Neill BP, Buckner JC, Il’yasova D, Jenkins RB, Wrensch MR (2011) Associations of high-grade glioma with glioma risk alleles and histories of allergy and smoking. Am J Epidemiol 174:574-81 CrossRef
13. Landi MT, Chatterjee N, Yu K, Goldin LR, Goldstein AM, Rotunno M, Mirabello L, Jacobs K, Wheeler W, Yeager M, Bergen AW, Li Q, Consonni D, Pesatori AC, Wacholder S, Thun M, Diver R, Oken M, Virtamo J, Albanes D, Wang Z, Burdette L, Doheny KF, Pugh EW, Laurie C, Brennan P, Hung R, Gaborieau V, McKay JD, Lathrop M, McLaughlin J, Wang Y, Tsao MS, Spitz MR, Krokan H, Vatten L, Skorpen F, Arnesen E, Benhamou S, Bouchard C, Metspalu A, Vooder T, Nelis M, Valk K, Field JK, Chen C, Goodman G, Sulem P, Thorleifsson G, Rafnar T, Eisen T, Sauter W, Rosenberger A, Bickeboller H, Risch A, Chang-Claude J, Wichmann HE, Stefansson K, Houlston R, Amos CI, Fraumeni JF Jr, Savage SA, Bertazzi PA, Tucker MA, Chanock S, Caporaso NE (2009) A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma. Am J Hum Genet 85:679-91 CrossRef
14. Louis DN, Ohgaki H, Wiestler OD, Cavanee WK (2007) WHO classification of tumors of the central nervous system. IARC Press, Lyons
15. Malmer B, Henriksson R, Gronberg H (2003) Familial brain tumours—genetics or environment? A nationwide cohort study of cancer risk in spouses and first-degree relatives of brain tumour patients. Int J Cancer 106:260-63 CrossRef
16. Noushmehr H, Weisenberger DJ, Diefes K, Phillips HS, Pujara K, Berman BP, Pan F, Pelloski CE, Sulman EP, Bhat KP, Verhaak RG, Hoadley KA, Hayes DN, Perou CM, Schmidt HK, Ding L, Wilson RK, Van Den Berg D, Shen H, Bengtsson H, Neuvial P, Cope LM, Buckley J, Herman JG, Baylin SB, Laird PW, Aldape K (2010) Identification of a CpG island methylator phenotype that defines a distinct subgroup of glioma. Cancer Cell 17:510-22 CrossRef
17. Park JH, Wacholder S, Gail MH, Peters U, Jacobs KB, Chanock SJ, Chatterjee N (2010) Estimation of effect size distribution from genome-wide association studies and implications for future discoveries. Nat Genet 42:570-75 CrossRef
18. Phillips HS, Kharbanda S, Chen R, Forrest WF, Soriano RH, Wu TD, Misra A, Nigro JM, Colman H, Soroceanu L, Williams PM, Modrusan Z, Feuerstein BG, Aldape K (2006) Molecular subclasses of high-grade glioma predict prognosis, delineate a pattern of disease progression, and resemble stages in neurogenesis. Cancer Cell 9:157-73 CrossRef
19. Price AL, Patterson NJ, Plenge RM, Weinblatt ME, Shadick NA, Reich D (2006) Principal components analysis corrects for stratification in genome-wide association studies. Nat Genet 38:904-09 CrossRef
20. Stacey SN, Sulem P, Jonasdottir A, Masson G, Gudmundsson J, Gudbjartsson DF, Magnusson OT, Gudjonsson SA, Sigurgeirsson B, Thorisdottir K, Ragnarsson R, Benediktsdottir KR, Nexo BA, Tjonneland A, Overvad K, Rudnai P, Gurzau E, Koppova K, Hemminki K, Corredera C, Fuentelsaz V, Grasa P, Navarrete S, Fuertes F, Garcia-Prats MD, Sanambrosio E, Panadero A, De Juan A, Garcia A, Rivera F, Planelles D, Soriano V, Requena C, Aben KK, van Rossum MM, Cremers RG, van Oort IM, van Spronsen DJ, Schalken JA, Peters WH, Helfand BT, Donovan JL, Hamdy FC, Badescu D, Codreanu O, Jinga M, Csiki IE, Constantinescu V, Badea P, Mates IN, Dinu DE, Constantin A, Mates D, Kristjansdottir S, Agnarsson BA, Jonsson E, Barkardottir RB, Einarsson GV, Sigurdsson F, Moller PH, Stefansson T, Valdimarsson T, Johannsson OT, Sigurdsson H, Jonsson T, Jonasson JG, Tryggvadottir L, Rice T, Hansen HM, Xiao Y, Lachance DH, BP ON, Kosel ML, Decker PA, Thorleifsson G, Johannsdottir H, Helgadottir HT, Sigurdsson A, Steinthorsdottir V, Lindblom A, Sandler RS, Keku TO, Banasik K, Jorgensen T, Witte DR, Hansen T, Pedersen O, Jinga V, Neal DE, Catalona WJ, Wrensch M, Wiencke J, Jenkins RB, Nagore E, Vogel U, Kiemeney LA, Kumar R, Mayordomo JI, Olafsson JH, Kong A et al (2011) A germline variant in the TP53 polyadenylation signal confers cancer susceptibility. Nature genetics 43: 1098-103
21. Sanson M, Hosking FJ, Shete S, Zelenika D, Dobbins SE, Ma Y, Enciso-Mora V, Idbaih A, Delattre JY, Hoang-Xuan K, Marie Y, Boisselier B, Carpentier C, Wang XW, Di Stefano AL, Labussiere M, Gousias K, Schramm J, Boland A, Lechner D, Gut I, Armstrong G, Liu Y, Yu R, Lau C, Di Bernardo MC, Robertson LB, Muir K, Hepworth S, Swerdlow A, Schoemaker MJ, Wichmann HE, Muller M, Schreiber S, Franke A, Moebus S, Eisele L, Forsti A, Hemminki K, Lathrop M, Bondy M, Houlston RS, Simon M (2011) Chromosome 7p11.2 (EGFR) variation influences glioma risk. Hum Mol Genet 20:2897-904 CrossRef
22. Scheurer ME, Etzel CJ, Liu M, El-Zein R, Airewele GE, Malmer B, Aldape KD, Weinberg JS, Yung WK, Bondy ML (2007) Aggregation of cancer in first-degree relatives of patients with glioma. Cancer Epidemiol Biomarkers Prev 16:2491-495 CrossRef
23. Schoemaker MJ, Robertson L, Wigertz A, Jones ME, Hosking FJ, Feychting M, Lonn S, McKinney PA, Hepworth SJ, Muir KR, Auvinen A, Salminen T, Kiuru A, Johansen C, Houlston RS, Swerdlow AJ (2010) Interaction between 5 genetic variants and allergy in glioma risk. Am J Epidemiol 171:1165-173 CrossRef
24. 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, Lonn 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 (2009) Genome-wide association study identifies five susceptibility loci for glioma. Nat Genet 41:899-04 CrossRef
25. Simon M, Hosking FJ, Marie Y, Gousias K, Boisselier B, Carpentier C, Schramm J, Mokhtari K, Hoang-Xuan K, Idbaih A, Delattre JY, Lathrop M, Robertson LB, Houlston RS, Sanson M (2010) Genetic risk profiles identify different molecular etiologies for glioma. Clin Cancer Res 16:5252-259 CrossRef
26. Wrensch M, Lee M, Miike R, Newman B, Barger G, Davis R, Wiencke J, Neuhaus J (1997) Familial and personal medical history of cancer and nervous system conditions among adults with glioma and controls. Am J Epidemiol 145:581-93 CrossRef
27. Wrensch M, Jenkins RB, Chang JS, Yeh RF, Xiao Y, Decker PA, Ballman KV, Berger M, Buckner JC, Chang S, Giannini C, Halder C, Kollmeyer TM, Kosel ML, LaChance DH, McCoy L, O’Neill BP, Patoka J, Pico AR, Prados M, Quesenberry C, Rice T, Rynearson AL, Smirnov I, Tihan T, Wiemels J, Yang P, Wiencke JK (2009) Variants in the CDKN2B and RTEL1 regions are associated with high-grade glioma susceptibility. Nat Genet 41:905-08 CrossRef
28. Yan H, Parsons DW, Jin G, McLendon R, Rasheed BA, Yuan W, Kos I, Batinic-Haberle I, Jones S, Riggins GJ, Friedman H, Friedman A, Reardon D, Herndon J, Kinzler KW, Velculescu VE, Vogelstein B, Bigner DD (2009) IDH1 and IDH2 mutations in gliomas. N Engl J Med 360:765-73 CrossRef
29. Yeager M, Orr N, Hayes RB, Jacobs KB, Kraft P, Wacholder S, Minichiello MJ, Fearnhead P, Yu K, Chatterjee N, Wang Z, Welch R, Staats BJ, Calle EE, Feigelson HS, Thun MJ, Rodriguez C, Albanes D, Virtamo J, Weinstein S, Schumacher FR, Giovannucci E, Willett WC, Cancel-Tassin G, Cussenot O, Valeri A, Andriole GL, Gelmann EP, Tucker M, Gerhard DS, Fraumeni JF Jr, Hoover R, Hunter DJ, Chanock SJ, Thomas G (2007) Genome-wide association study of prostate cancer identifies a second risk locus at 8q24. Nat Genet 39:645-49 CrossRef
30. Yu K, Wang Z, Li Q, Wacholder S, Hunter DJ, Hoover RN, Chanock S, Thomas G (2008) Population substructure and control selection in genome-wide association studies. PLoS ONE 3:e2551 CrossRef - 作者单位：Preetha Rajaraman (1) (40)
Beatrice S. Melin (2)
Zhaoming Wang (1) (3)
Roberta McKean-Cowdin (4)
Dominique S. Michaud (5) (6)
Sophia S. Wang (7)
Melissa Bondy (8)
Richard Houlston (9)
Robert B. Jenkins (10)
Margaret Wrensch (11)
Meredith Yeager (1) (3)
Anders Ahlbom (12)
Demetrius Albanes (1)
Ulrika Andersson (2)
Laura E. Beane Freeman (1)
Julie E. Buring (13)
Mary Ann Butler (14)
Melissa Braganza (1)
Tania Carreon (14)
Maria Feychting (12)
Sarah J. Fleming (15)
Susan M. Gapstur (16)
J. Michael Gaziano (13) (17)
Graham G. Giles (18) (19)
Goran Hallmans (20)
Roger Henriksson (2)
Judith Hoffman-Bolton (21)
Peter D. Inskip (1)
Christoffer Johansen (22)
Cari M. Kitahara (1)
Mark Lathrop (23) (24)
Chenwei Liu (3)
Loic Le Marchand (25)
Martha S. Linet (1)
Stefan Lonn (12) (26)
Ulrike Peters (27) (28)
Mark P. Purdue (1)
Nathaniel Rothman (1)
Avima M. Ruder (14)
Marc Sanson (29)
Howard D. Sesso (13)
Gianluca Severi (18) (19)
Xiao-Ou Shu (30)
Matthias Simon (31)
Meir Stampfer (32) (33)
Victoria L. Stevens (16)
Kala Visvanathan (21) (34)
Emily White (27) (28)
Alicja Wolk (35)
Anne Zeleniuch-Jacquotte (36)
Wei Zheng (30)
Paul Decker (10)
Victor Enciso-Mora (9)
Brooke Fridley (10)
Yu-Tang Gao (37)
Matthew Kosel (10)
Daniel H. Lachance (10)
Ching Lau (8)
Terri Rice (11)
Anthony Swerdlow (38) (9)
Joseph L. Wiemels (11)
John K. Wiencke (11)
Sanjay Shete (39)
Yong-Bing Xiang (37)
Yuanyuan Xiao (11)
Robert N. Hoover (1)
Joseph F. Fraumeni Jr. (1)
Nilanjan Chatterjee (1)
Patricia Hartge (1)
Stephen J. Chanock (1) (3)
1. Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA
40. Radiation Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, DHHS, 6120 Executive Blvd, Bethesda, MD, USA
2. Department of Radiation Sciences, Oncology, Ume? University, Ume?, Sweden
3. Core Genotyping Facility, National Cancer Institute, SAIC-Frederick, Inc, Gaithersburg, MD, USA
4. Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA
5. Division of Biology and Medicine, Department of Epidemiology, Brown University, Providence, RI, USA
6. School of Public Health, Imperial College London, London, UK
7. Division of Cancer Etiology, Department of Population Sciences, City of Hope and the Beckman Research Institute, Duarte, CA, USA
8. Baylor College of Medicine, Houston, TX, USA
9. Division of Genetics and Epidemiology, Institute of Cancer Research, Sutton, UK
10. Mayo Clinic, Rochester, MN, USA
11. University of California San Francisco, San Francisco, CA, USA
12. Division of Epidemiology, Institute of Environmental Medicine, Karolinska Institutet, Stockholm, Sweden
13. Division of Preventive Medicine, Brigham and Women’s Hospital and Harvard Medical School, Boston, MA, USA
14. National Institute for Occupational Safety and Health, Centers for Disease Control and Prevention, Cincinnati, OH, USA
15. Division of Biostatistics, University of Leeds, Leeds, UK
16. Epidemiology Research Program, American Cancer Society, Atlanta, GA, USA
17. Massachusetts Veteran’s Epidemiology, Research and Information Center, Geriatric Research Education and Clinical Center, VA Boston Healthcare System, Boston, MA, USA
18. Cancer Epidemiology Centre, Cancer Council of Victoria, Melbourne, Australia
19. Centre for Molecular, Environmental, Genetic, and Analytic Epidemiology, University of Melbourne, Melbourne, Australia
20. Department of Public Health and Clinical Medicine/Nutritional Research, Ume? University, Ume?, Sweden
21. Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, USA
22. Unit of Survivorship, The Danish Cancer Society Research Center, Copenhagen, Denmark
23. Centre National de Genotypage, IG/CEA, Evry Cedex, France
24. Foundation Jean Dauset-CEPH, Paris, France
25. Cancer Research Center, University of Hawaii, Honolulu, USA
26. Medical Department, AstraZeneca Nordic, S?dert?lje, Sweden
27. Fred Hutchinson Cancer Research Center, Seattle, WA, USA
28. Department of Epidemiology, University of Washington, Seattle, WA, USA
29. Service de Neurologie Mazarin, GH Pitié-Salpêtrière, APHP, and UMR 975 INSERM-UPMC, CRICM, Paris, France
30. Vanderbilt University Medical Center, Nashville, TN, USA
31. Neurochirurgische Universitatsklinik, Bonn, Germany
32. Channing Laboratory, Brigham and Women’s Hospital, Harvard Medical School, Boston, MA, USA
33. Departments of Epidemiology and Nutrition, Harvard School of Public Health, Boston, MA, USA
34. Johns Hopkins Sidney Kimmel Comprehensive Cancer Center, Baltimore, MD, USA
35. Division of Nutritional Epidemiology, Institute of Environmental Medicine, Karolinska Institutet, Stockholm, Sweden
36. Division of Epidemiology, Department of Environmental Medicine, NYU School of Medicine, New York, NY, USA
37. Department of Epidemiology, Shanghai Cancer Institute, Renji Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China
38. Division of Breast Cancer Research, Institute of Cancer Research, London, UK
39. Department of Biostatistics, MD Anderson Cancer Center, Orlando, TX, USA - ISSN：1432-1203
文摘
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 case–control 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.