Large-Scale Genome-Wide Association Study of East Asians Identifies Loci Associated With Risk for Colorectal Cancer.

作者: Yingchang Lu , Sun-Seog Kweon , Chizu Tanikawa , Wei-Hua Jia , Yong-Bing Xiang

DOI: 10.1053/J.GASTRO.2018.11.066

关键词:

摘要: Background & Aims Genome-wide association studies (GWASs) have associated approximately 50 loci with risk of colorectal cancer (CRC)—nearly one third these were initially CRC in conducted East Asian populations. We a GWAS Asians to identify and evaluate the generalizability findings from GWASs European populations Methods analyzed genetic data 22,775 patients (cases) 47,731 individuals without (controls) 14 Asia Colorectal Cancer Consortium. First, we performed meta-analysis 7 (10,625 cases 34,595 controls) identified 46,554 promising variants for replication by adding them Multi-Ethnic Global Array (MEGA) genotype analysis 6445 7175 controls. These analyzed, along an additional 5705 5961 controls genotyped using OncoArray. also obtained 57,976 67,242 descent. Variants at functionally annotated evaluated correlation gene expression levels. Results A meta-analyses all samples people descent 13 1 new variant known locus (10q24.2) genome-wide significance level P Conclusions showed that most previously Asians. Furthermore, significantly Many contained genes regulate immune response, Wnt signaling β-catenin, prostaglandin E2 catabolism, cell pluripotency proliferation. Further analyses their is warranted, particularly 8 which lead not replicated persons

参考文章(58)
Bernardo Yusta, Daniel J. Drucker, Robin P. Boushey, Glucagon-like Peptide (GLP)-2 Reduces Chemotherapy-associated Mortality and Enhances Cell Survival in Cells Expressing a Transfected GLP-2 Receptor Cancer Research. ,vol. 61, pp. 687- 693 ,(2001)
GTEx Consortium, Kristin G Ardlie, David S Deluca, Ayellet V Segrè, Timothy J Sullivan, Taylor R Young, Ellen T Gelfand, Casandra A Trowbridge, Julian B Maller, Taru Tukiainen, Monkol Lek, Lucas D Ward, Pouya Kheradpour, Benjamin Iriarte, Yan Meng, Cameron D Palmer, Tõnu Esko, Wendy Winckler, Joel N Hirschhorn, Manolis Kellis, Daniel G MacArthur, Gad Getz, Andrey A Shabalin, Gen Li, Yi-Hui Zhou, Andrew B Nobel, Ivan Rusyn, Fred A Wright, Tuuli Lappalainen, Pedro G Ferreira, Halit Ongen, Manuel A Rivas, Alexis Battle, Sara Mostafavi, Jean Monlong, Michael Sammeth, Marta Mele, Ferran Reverter, Jakob M Goldmann, Daphne Koller, Roderic Guigó, Mark I McCarthy, Emmanouil T Dermitzakis, Eric R Gamazon, Hae Kyung Im, Anuar Konkashbaev, Dan L Nicolae, Nancy J Cox, Timothée Flutre, Xiaoquan Wen, Matthew Stephens, Jonathan K Pritchard, Zhidong Tu, Bin Zhang, Tao Huang, Quan Long, Luan Lin, Jialiang Yang, Jun Zhu, Jun Liu, Amanda Brown, Bernadette Mestichelli, Denee Tidwell, Edmund Lo, Mike Salvatore, Saboor Shad, Jeffrey A Thomas, John T Lonsdale, Michael T Moser, Bryan M Gillard, Ellen Karasik, Kimberly Ramsey, Christopher Choi, Barbara A Foster, John Syron, Johnell Fleming, Harold Magazine, Rick Hasz, Gary D Walters, Jason P Bridge, Mark Miklos, Susan Sullivan, Laura K Barker, Heather M Traino, Maghboeba Mosavel, Laura A Siminoff, Dana R Valley, Daniel C Rohrer, Scott D Jewell, Philip A Branton, Leslie H Sobin, Mary Barcus, Liqun Qi, Jeffrey McLean, Pushpa Hariharan, Ki Sung Um, Shenpei Wu, David Tabor, Charles Shive, Anna M Smith, Stephen A Buia, Anita H Undale, Karna L Robinson, Nancy Roche, Kimberly M Valentino, Angela Britton, Robin Burges, Debra Bradbury, Kenneth W Hambright, John Seleski, Greg E Korzeniewski, Kenyon Erickson, Yvonne Marcus, Jorge Tejada, Mehran Taherian, Chunrong Lu, Margaret Basile, Deborah C Mash, Simona Volpi, Jeffery P Struewing, Gary F Temple, Joy Boyer, Deborah Colantuoni, Roger Little, Susan Koester, Latarsha J Carithers, Helen M Moore, Ping Guan, Carolyn Compton, Sherilyn J Sawyer, Joanne P Demchok, Jimmie B Vaught, Chana A Rabiner, Nicole C Lockhart, Kristin G Ardlie, Gad Getz, Fred A Wright, Manolis Kellis, Simona Volpi, Emmanouil T Dermitzakis, None, The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans Science. ,vol. 348, pp. 648- 660 ,(2015) , 10.1126/SCIENCE.1262110
Robbert DA Weren, Marjolijn JL Ligtenberg, C Marleen Kets, Richarda M De Voer, Eugène TP Verwiel, Liesbeth Spruijt, Wendy AG van Zelst-Stams, Marjolijn C Jongmans, Christian Gilissen, Jayne Y Hehir-Kwa, Alexander Hoischen, Jay Shendure, Evan A Boyle, Eveline J Kamping, Iris D Nagtegaal, Bastiaan BJ Tops, Fokko M Nagengast, AD Geurts van Kessel, J Han JM van Krieken, Roland P Kuiper, Nicoline Hoogerbrugge, None, A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer Nature Genetics. ,vol. 47, pp. 668- 671 ,(2015) , 10.1038/NG.3287
Ivan Adzhubei, Daniel M. Jordan, Shamil R. Sunyaev, Predicting Functional Effect of Human Missense Mutations Using PolyPhen-2 Current protocols in human genetics. ,vol. 76, ,(2013) , 10.1002/0471142905.HG0720S76
Idit Hazan, Mohammad Abu-Odeh, Thomas G Hofmann, Rami I Aqeilan, WWOX guards genome stability by activating ATM. Molecular and Cellular Oncology. ,vol. 2, ,(2015) , 10.1080/23723556.2015.1008288
Izabela Baryła, Ewa Styczeń-Binkowska, Andrzej K Bednarek, Alteration of WWOX in human cancer, a clinical view Experimental Biology and Medicine. ,vol. 240, pp. 305- 314 ,(2015) , 10.1177/1535370214561953
Bernardo Yusta, Dianne Holland, Jacqueline A. Koehler, Marlena Maziarz, Jennifer L. Estall, Rachel Higgins, Daniel J. Drucker, ErbB Signaling Is Required for the Proliferative Actions of GLP-2 in the Murine Gut Gastroenterology. ,vol. 137, pp. 986- 996 ,(2009) , 10.1053/J.GASTRO.2009.05.057
Joseph Lau, John PA Ioannidis, Christopher H Schmid, Quantitative Synthesis in Systematic Reviews Annals of Internal Medicine. ,vol. 127, pp. 820- 826 ,(1997) , 10.7326/0003-4819-127-9-199711010-00008
K. Wang, M. Li, H. Hakonarson, ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data Nucleic Acids Research. ,vol. 38, ,(2010) , 10.1093/NAR/GKQ603
Takeo Nakaya, Seishi Ogawa, Ichiro Manabe, Masami Tanaka, Masashi Sanada, Toshiro Sato, Makoto M. Taketo, Kazuki Nakao, Hans Clevers, Masashi Fukayama, Masahiko Kuroda, Ryozo Nagai, KLF5 regulates the integrity and oncogenicity of intestinal stem cells. Cancer Research. ,vol. 74, pp. 2882- 2891 ,(2014) , 10.1158/0008-5472.CAN-13-2574