A genome-wide association scan of tag SNPs identifies a susceptibility variant for colorectal cancer at 8q24.21.
作者： Ian Tomlinson , Emily Webb , Luis Carvajal-Carmona , Peter Broderick , Zoe Kemp
DOI: 10.1038/NG2085
关键词:
摘要: Much of the variation in inherited risk colorectal cancer (CRC) is probably due to combinations common low variants. We conducted a genome- wide association study 550,000 tag SNPs 930 familial tumor cases and 960 controls. The most strongly associated SNP (P = 1.72 x 10(-7), allelic test) was rs6983267 at 8q24.21. To validate this finding, we genotyped three additional CRC case-control series (4,361 affected individuals 3,752 controls; 1,901 1,079 1,072 415 controls) replicated association, providing P 1.27 10(-14) (allelic overall, with odds ratios (ORs) (95% confidence interval (c.i.): 1.16-1.39) 1.47 c.i.: 1.34-1.62) for heterozygotes rare homozygotes, respectively. Analyses based on 1,477 adenoma 2,136 controls suggest that susceptibility mediated through development adenomas (OR 1.21, 95% 1.10-1.34; 6.89 10(-5)). These data show common, low-penetrance alleles predispose neoplasia.
nature.com
elsevier.com
lshtm.ac.uk
sci-hub.se 参考文章(15)
Angela Cox, Alison M Dunning, Montserrat Garcia-Closas, Sabapathy Balasubramanian, Malcolm WR Reed, Karen A Pooley, Serena Scollen, Caroline Baynes, Bruce AJ Ponder, Stephen Chanock, Jolanta Lissowska, Louise Brinton, Beata Peplonska, Melissa C Southey, John L Hopper, Margaret RE McCredie, Graham G Giles, Olivia Fletcher, Nichola Johnson, Isabel dos Santos Silva, Lorna Gibson, Stig E Bojesen, Børge G Nordestgaard, Christen K Axelsson, Diana Torres, Ute Hamann, Christina Justenhoven, Hiltrud Brauch, Jenny Chang-Claude, Silke Kropp, Angela Risch, Shan Wang-Gohrke, Peter Schürmann, Natalia Bogdanova, Thilo Dörk, Rainer Fagerholm, Kirsimari Aaltonen, Carl Blomqvist, Heli Nevanlinna, Sheila Seal, Anthony Renwick, Michael R Stratton, Nazneen Rahman, Suleeporn Sangrajrang, David Hughes, Fabrice Odefrey, Paul Brennan, Amanda B Spurdle, Georgia Chenevix-Trench, Kathleen Cunningham Foundation Consortium for Research into Familial Breast Cancer, Jonathan Beesley, Arto Mannermaa, Jaana Hartikainen, Vesa Kataja, Veli-Matti Kosma, Fergus J Couch, Janet E Olson, Ellen L Goode, Annegien Broeks, Marjanka K Schmidt, Frans BL Hogervorst, Laura J Van't Veer, Daehee Kang, Keun-Young Yoo, Dong-Young Noh, Sei-Hyun Ahn, Sara Wedrén, Per Hall, Yen-Ling Low, Jianjun Liu, Roger L Milne, Gloria Ribas, Anna Gonzalez-Neira, Javier Benitez, Alice J Sigurdson, Denise L Stredrick, Bruce H Alexander, Jeffery P Struewing, Paul DP Pharoah, Douglas F Easton, Breast Cancer Association Consortium, None, A common coding variant in CASP8 is associated with breast cancer risk Nature Genetics. ,vol. 39, pp. 352- 358 ,(2007) , 10.1038/NG1981
Xiao‐Ping Zhou, Jean‐Marc Hoang, You‐Jun Li, Raquel Seruca, Fatima Carneiro, Manuel Sobrinho‐Simoes, Ragnhild A Lothe, Catherine M Gleeson, SE Hilary Russell, Françoise Muzeau, Jean‐François Fléjou, Khê Hoang‐Xuan, Rosette Lidereau, Gilles Thomas, Richard Hamelin, None, Determination of the replication error phenotype in human tumors without the requirement for matching normal DNA by analysis of mononucleotide repeat microsatellites Genes, Chromosomes and Cancer. ,vol. 21, pp. 101- 107 ,(1998) , 10.1002/(SICI)1098-2264(199802)21:2<101::AID-GCC4>3.0.CO;2-4
Christopher A Haiman, Nick Patterson, Matthew L Freedman, Simon R Myers, Malcolm C Pike, Alicja Waliszewska, Julie Neubauer, Arti Tandon, Christine Schirmer, Gavin J McDonald, Steven C Greenway, Daniel O Stram, Loic Le Marchand, Laurence N Kolonel, Melissa Frasco, David Wong, Loreall C Pooler, Kristin Ardlie, Ingrid Oakley-Girvan, Alice S Whittemore, Kathleen A Cooney, Esther M John, Sue A Ingles, David Altshuler, Brian E Henderson, David Reich, Multiple regions within 8q24 independently affect risk for prostate cancer. Nature Genetics. ,vol. 39, pp. 638- 644 ,(2007) , 10.1038/NG2015
Guang Jin PAN, Zeng Yi CHANG, Hans R. SCHÖLER, Duanqing PEI, Stem cell pluripotency and transcription factor Oct4. Cell Research. ,vol. 12, pp. 321- 329 ,(2002) , 10.1038/SJ.CR.7290134
Julius Gudmundsson, Patrick Sulem, Andrei Manolescu, Laufey T Amundadottir, Daniel Gudbjartsson, Agnar Helgason, Thorunn Rafnar, Jon T Bergthorsson, Bjarni A Agnarsson, Adam Baker, Asgeir Sigurdsson, Kristrun R Benediktsdottir, Margret Jakobsdottir, Jianfeng Xu, Thorarinn Blondal, Jelena Kostic, Jielin Sun, Shyamali Ghosh, Simon N Stacey, Magali Mouy, Jona Saemundsdottir, Valgerdur M Backman, Kristleifur Kristjansson, Alejandro Tres, Alan W Partin, Marjo T Albers-Akkers, Javier Godino-Ivan Marcos, Patrick C Walsh, Dorine W Swinkels, Sebastian Navarrete, Sarah D Isaacs, Katja K Aben, Theresa Graif, John Cashy, Manuel Ruiz-Echarri, Kathleen E Wiley, Brian K Suarez, J Alfred Witjes, Mike Frigge, Carole Ober, Eirikur Jonsson, Gudmundur V Einarsson, Jose I Mayordomo, Lambertus A Kiemeney, William B Isaacs, William J Catalona, Rosa B Barkardottir, Jeffrey R Gulcher, Unnur Thorsteinsdottir, Augustine Kong, Kari Stefansson, Genome-wide association study identifies a second prostate cancer susceptibility variant at 8q24. Nature Genetics. ,vol. 39, pp. 631- 637 ,(2007) , 10.1038/NG1999
Louise E. Johns, Richard S. Houlston, A systematic review and meta-analysis of familial colorectal cancer risk The American Journal of Gastroenterology. ,vol. 96, pp. 2992- 3003 ,(2001) , 10.1111/J.1572-0241.2001.04677.X
Paul Lichtenstein, Niels V. Holm, Pia K. Verkasalo, Anastasia Iliadou, Jaakko Kaprio, Markku Koskenvuo, Eero Pukkala, Axel Skytthe, Kari Hemminki, Environmental and Heritable Factors in the Causation of Cancer — Analyses of Cohorts of Twins from Sweden, Denmark, and Finland The New England Journal of Medicine. ,vol. 343, pp. 78- 85 ,(2000) , 10.1056/NEJM200007133430201
Lauri Aaltonen, Louise Johns, Heikki Järvinen, Jukka-Pekka Mecklin, Richard Houlston, Explaining the Familial Colorectal Cancer Risk Associated with Mismatch Repair (MMR)-Deficient and MMR-Stable Tumors Clinical Cancer Research. ,vol. 13, pp. 356- 361 ,(2007) , 10.1158/1078-0432.CCR-06-1256
Julian P. T. Higgins, Simon G. Thompson, Quantifying heterogeneity in a meta‐analysis Statistics in Medicine. ,vol. 21, pp. 1539- 1558 ,(2002) , 10.1002/SIM.1186
Single flexible sigmoidoscopy screening to prevent colorectal cancer: baseline findings of a UK multicentre randomised trial. The Lancet. ,vol. 359, pp. 1291- 1300 ,(2002) , 10.1016/S0140-6736(02)08268-5