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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 19345naa a2201453 4500 | |
| 001 | oai:DiVA.org:uu-427550 | |
| 003 | SwePub | |
| 008 | 201209s2020 | |||||||||||000 ||eng| | |
| 009 | oai:prod.swepub.kib.ki.se:146188541 | |
| 009 | oai:DiVA.org:umu-180798 | |
| 024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-4275502 URI |
| 024 | 7 | a https://doi.org/10.1053/j.gastro.2020.08.0622 DOI |
| 024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:1461885412 URI |
| 024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-1807982 URI |
| 040 | a (SwePub)uud (SwePub)kid (SwePub)umu | |
| 041 | a engb eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a ref2 swepub-contenttype |
| 072 | 7 | a art2 swepub-publicationtype |
| 100 | 1 | a Guo, Xingyiu Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, and Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, TN, Nashville, United States4 aut |
| 245 | 1 0 | a Identifying Novel Susceptibility Genes for Colorectal Cancer Risk From a Transcriptome-Wide Association Study of 125,478 Subjects |
| 264 | 1 | b Elsevier,c 2020 |
| 338 | a print2 rdacarrier | |
| 500 | a Gastroenterology 2021;160:1164–1178 | |
| 520 | a Background and Aims: Susceptibility genes and the underlying mechanisms for the majority of risk loci identified by genome-wide association studies (GWAS) for colorectal cancer (CRC) risk remain largely unknown. We conducted a transcriptome-wide association study (TWAS) to identify putative susceptibility genes.Methods: Gene-expression prediction models were built using transcriptome and genetic data from the 284 normal transverse colon tissues of European descendants from the Genotype-Tissue Expression (GTEx), and model performance was evaluated using data from The Cancer Genome Atlas (n = 355). We applied the gene-expression prediction models and GWAS data to evaluate associations of genetically predicted gene-expression with CRC risk in 58,131 CRC cases and 67,347 controls of European ancestry. Dual-luciferase reporter assays and knockdown experiments in CRC cells and tumor xenografts were conducted.Results: We identified 25 genes associated with CRC risk at a Bonferroni-corrected threshold of P < 9.1 × 10-6, including genes in 4 novel loci, PYGL (14q22.1), RPL28 (19q13.42), CAPN12 (19q13.2), MYH7B (20q11.22), and MAP1L3CA (20q11.22). In 9 known GWAS-identified loci, we uncovered 9 genes that have not been reported previously, whereas 4 genes remained statistically significant after adjusting for the lead risk variant of the locus. Through colocalization analysis in GWAS loci, we additionally identified 12 putative susceptibility genes that were supported by TWAS analysis at P < .01. We showed that risk allele of the lead risk variant rs1741640 affected the promoter activity of CABLES2. Knockdown experiments confirmed that CABLES2 plays a vital role in colorectal carcinogenesis.Conclusions: Our study reveals new putative susceptibility genes and provides new insight into the biological mechanisms underlying CRC development. | |
| 650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe |
| 650 | 7 | a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng |
| 653 | a Colorectal Cancer | |
| 653 | a Susceptibility Genes | |
| 653 | a TWAS | |
| 653 | a CABLES2 | |
| 700 | 1 | a Lin, Weiqiangu The Kidney Disease Center, the First Affiliated Hospital, Institute of Translational Medicine, Zhejiang University School of Medicine, Hangzhou, China4 aut |
| 700 | 1 | a Wen, Wanqingu Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, and Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, TN, Nashville, United States4 aut |
| 700 | 1 | a Huyghe, Jeroenu Division of Public Health Sciences, Fred Hutchinson Cancer Research Center, WA, Seattle, United States4 aut |
| 700 | 1 | a Bien, Stephanieu Division of Public Health Sciences, Fred Hutchinson Cancer Research Center, WA, Seattle, United States4 aut |
| 700 | 1 | a Cai, Qiuyinu Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, and Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, TN, Nashville, United States4 aut |
| 700 | 1 | a Harrison, Tabithau Division of Public Health Sciences, Fred Hutchinson Cancer Research Center, WA, Seattle, United States4 aut |
| 700 | 1 | a Chen, Zhishanu Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, and Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, TN, Nashville, United States4 aut |
| 700 | 1 | a Qu, Conghuiu Division of Public Health Sciences, Fred Hutchinson Cancer Research Center, WA, Seattle, United States4 aut |
| 700 | 1 | a Bao, Jiandongu Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, and Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, TN, Nashville, United States,Division of Human Nutrition and Health, Wageningen University and Research, Wageningen, Netherlands4 aut |
| 700 | 1 | a Long, Jirongu Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, and Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, TN, Nashville, United States4 aut |
| 700 | 1 | a Yuan, Yuanu The Kidney Disease Center, the First Affiliated Hospital, Institute of Translational Medicine, Zhejiang University School of Medicine, Hangzhou, China4 aut |
| 700 | 1 | a Wang, Fangqinu The Kidney Disease Center, the First Affiliated Hospital, Institute of Translational Medicine, Zhejiang University School of Medicine, Hangzhou, China4 aut |
| 700 | 1 | a Bai, Mengqiuu The Kidney Disease Center, the First Affiliated Hospital, Institute of Translational Medicine, Zhejiang University School of Medicine, Hangzhou, China4 aut |
| 700 | 1 | a Abecasis, Goncalo Ru Department of Biostatistics and Center for Statistical Genetics, University of Michigan, MI, Ann Arbor, United States4 aut |
| 700 | 1 | a Albanes, Demetriusu Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, MD, Bethesda, United States4 aut |
| 700 | 1 | a Berndt, Sonja Iu Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, MD, Bethesda, United States4 aut |
| 700 | 1 | a Bézieau, Stéphaneu Service de Génétique Médicale, Centre Hospitalier Universitaire, Nantes, France,Department of Preventive Medicine and University of Southern California Norris Comprehensive Cancer Center, Keck School of Medicine, University of Southern California, CA, Los Angeles, United States4 aut |
| 700 | 1 | a Bishop, D Timothyu Leeds Institute of Cancer and Pathology, University of Leeds, Leeds, United Kingdom4 aut |
| 700 | 1 | a Brenner, Hermannu Division of Clinical Epidemiology and Aging Research, German Cancer Research Center, Heidelberg, Germany; Division of Preventive Oncology, German Cancer Research Center and National Center for Tumor Diseases, Heidelberg, Germany4 aut |
| 700 | 1 | a Buch, Stephanu Department of Medicine I, University Hospital Dresden, Technische Universität Dresden, Dresden, Germany4 aut |
| 700 | 1 | a Burnett-Hartman, Andreau Institute for Health Research, Kaiser Permanente Colorado, CO, Denver, United States4 aut |
| 700 | 1 | a Campbell, Peter Tu Behavioral and Epidemiology Research Group, American Cancer Society, Georgia, Atlanta, Georgia4 aut |
| 700 | 1 | a Castellví-Bel, Sergiu Gastroenterology Department, Hospital Clínic, Institut d'Investigacions Biomèdiques August Pi i Sunyer, Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas, University of Barcelona, Barcelona, Spain4 aut |
| 700 | 1 | a Chan, Andrew Tu Division of Gastroenterology, Massachusetts General Hospital and Harvard Medical School, MA, Boston, United States; Channing Division of Network Medicine, Brigham and Women's Hospital and Harvard Medical School, MA, Boston, United States4 aut |
| 700 | 1 | a Chang-Claude, Jennyu Division of Cancer Epidemiology, German Cancer Research Center, Heidelberg, Germany; University Medical Centre Hamburg-Eppendorf, University Cancer Centre Hamburg, Hamburg, Germany4 aut |
| 700 | 1 | a Chanock, Stephen Ju Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, MD, Bethesda, United States4 aut |
| 700 | 1 | a Cho, Sang Heeu Department of Hematology-Oncology, Chonnam National University Hospital, Hwasun, South Korea4 aut |
| 700 | 1 | a Conti, David Vu Department of Preventive Medicine and University of Southern California Norris Comprehensive Cancer Center, Keck School of Medicine, University of Southern California, CA, Los Angeles, United States,Department of Molecular Biology of Cancer, Institute of Experimental Medicine of the Czech Academy of Sciences, Prague, Czech Republic; Institute of Biology and Medical Genetics, First Faculty of Medicine, Charles University, Prague, Czech Republic4 aut |
| 700 | 1 | a Chapelle, Albert de lau Department of Cancer Biology and Genetics and the Comprehensive Cancer Center, The Ohio State University, OH, Columbus, United States4 aut |
| 700 | 1 | a Feskens, Edith J Mu Division of Human Nutrition and Health, Wageningen University and Research, Wageningen, Netherlands4 aut |
| 700 | 1 | a Gallinger, Steven Ju Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, University of Toronto, ON, Toronto, Canada4 aut |
| 700 | 1 | a Giles, Graham Gu Cancer Epidemiology Division, Cancer Council Victoria, Victoria, Melbourne, Australia; Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Victoria, Melbourne, Australia4 aut |
| 700 | 1 | a Goodman, Phyllis Ju SWOG Statistical Center, Fred Hutchinson Cancer Research Center, WA, Seattle, United States4 aut |
| 700 | 1 | a Gsur, Andreau Institute of Cancer Research, Department of Medicine I, Medical University Vienna, Vienna, Austria4 aut |
| 700 | 1 | a Guinter, Marku Behavioral and Epidemiology Research Group, American Cancer Society, Georgia, Atlanta, Georgia,Nutrition and Metabolism Section, International Agency for Research on Cancer, World Health Organization, Lyon, France4 aut |
| 700 | 1 | a Gunter, Marc J4 aut |
| 700 | 1 | a Hampe, Jochenu Department of Medicine I, University Hospital Dresden, Technische Universität Dresden, Dresden, Germany4 aut |
| 700 | 1 | a Hampel, Heatheru Division of Human Genetics, Department of Internal Medicine, The Ohio State University Comprehensive Cancer Center, OH, Columbus, United States4 aut |
| 700 | 1 | a Hayes, Richard Bu Division of Epidemiology, Department of Population Health, New York University School of Medicine, NY, New York, United States4 aut |
| 700 | 1 | a Hoffmeister, Michaelu Division of Clinical Epidemiology and Aging Research, German Cancer Research Center, Heidelberg, Germany4 aut |
| 700 | 1 | a Kampman, Ellenu Division of Human Nutrition and Health, Wageningen University and Research, Wageningen, Netherlands4 aut |
| 700 | 1 | a Kang, Hyun Minu Department of Biostatistics and Center for Statistical Genetics, University of Michigan, MI, Ann Arbor, United States4 aut |
| 700 | 1 | a Keku, Temitope Ou Center for Gastrointestinal Biology and Disease, University of North Carolina, NC, Chapel Hill, United States4 aut |
| 700 | 1 | a Kim, Hyeong Roku Department of Surgery, Chonnam National University Hwasun Hospital and Medical School, Korea, Hwasun, South Korea4 aut |
| 700 | 1 | a Le Marchand, Loicu University of Hawaii Cancer Center, HI, Honolulu, United States4 aut |
| 700 | 1 | a Lee, Soo Chinu National University Cancer Institute, Singapore; Cancer Science Institute of Singapore, National University of Singapore, Singapore4 aut |
| 700 | 1 | a Li, Christopher Iu Division of Public Health Sciences, Fred Hutchinson Cancer Research Center, WA, Seattle, United States,Department of Family Medicine, University of Virginia, VA, Charlottesville, United States4 aut |
| 700 | 1 | a Li, Liu Cancer Epidemiology Division, Cancer Council Victoria, Victoria, Melbourne, Australia; Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Victoria, Melbourne, Australia,Department of Cancer Epidemiology, H. Lee Moffitt Cancer Center and Research Institute, FL, Tampa, United States,Department of Internal Medicine, University of Utah, UT, Salt Lake City, United States,Division of Public Health Sciences, Fred Hutchinson Cancer Research Center, WA, Seattle, United States4 aut |
| 700 | 1 | a Lindblom, Annikau Karolinska Institutet,Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden4 aut |
| 700 | 1 | a Lindor, Noralaneu Health Sciences Research, Mayo Clinic, AZ, Scottsdale, United States4 aut |
| 700 | 1 | a Milne, Roger L4 aut |
| 700 | 1 | a Moreno, Victoru Oncology Data Analytics Program, Catalan Institute of Oncology-IDIBELL, L'Hospitalet de Llobregat, Barcelona, Spain; CIBER Epidemiología y Salud Pública, Madrid, Spain4 aut |
| 700 | 1 | a Murphy, Neilu Behavioral and Epidemiology Research Group, American Cancer Society, Georgia, Atlanta, Georgia4 aut |
| 700 | 1 | a Newcomb, Polly Au Division of Public Health Sciences, Fred Hutchinson Cancer Research Center, WA, Seattle, United States; School of Public Health, University of Washington, WA, Seattle, United States4 aut |
| 700 | 1 | a Nickerson, Deborah Au Department of Genome Sciences, University of Washington, WA, Seattle, United States4 aut |
| 700 | 1 | a Offit, Kennethu Clinical Genetics Service, Department of Medicine, Memorial Sloan-Kettering Cancer Center, NY, New York, United States; Department of Medicine, Weill Cornell Medical College, NY, New York, United States4 aut |
| 700 | 1 | a Pearlman, Rachelu Division of Human Genetics, Department of Internal Medicine, The Ohio State University Comprehensive Cancer Center, OH, Columbus, United States4 aut |
| 700 | 1 | a Pharoah, Paul D Pu Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom4 aut |
| 700 | 1 | a Platz, Elizabeth Au Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health, MD, Baltimore, United States4 aut |
| 700 | 1 | a Potter, John Du Division of Public Health Sciences, Fred Hutchinson Cancer Research Center, WA, Seattle, United States4 aut |
| 700 | 1 | a Rennert, Gadu Department of Community Medicine and Epidemiology, Lady Davis Carmel Medical Center, Haifa, Israel; Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel4 aut |
| 700 | 1 | a Sakoda, Lori Cu Division of Public Health Sciences, Fred Hutchinson Cancer Research Center, WA, Seattle, United States; Division of Research, Kaiser Permanente Northern California, CA, Oakland, United States4 aut |
| 700 | 1 | a Schafmayer, Clemensu Department of General Surgery, University Hospital Rostock, Rostock, Germany4 aut |
| 700 | 1 | a Schmit, Stephanie L4 aut |
| 700 | 1 | a Schoen, Robert Eu Department of Medicine and Epidemiology, University of Pittsburgh Medical Center, PA, Pittsburgh, United States4 aut |
| 700 | 1 | a Schumacher, Fredrick Ru Department of Population and Quantitative Health Sciences, Case Western Reserve University, OH, Cleveland, United States4 aut |
| 700 | 1 | a Slattery, Martha L4 aut |
| 700 | 1 | a Su, Yu-Ruu Division of Public Health Sciences, Fred Hutchinson Cancer Research Center, WA, Seattle, United States4 aut |
| 700 | 1 | a Tangen, Catherine Mu SWOG Statistical Center, Fred Hutchinson Cancer Research Center, WA, Seattle, United States4 aut |
| 700 | 1 | a Ulrich, Cornelia Mu Huntsman Cancer Institute and Department of Population Health Sciences, University of Utah, UT, Salt Lake City, United States4 aut |
| 700 | 1 | a van Duijnhoven, Franzel J B4 aut |
| 700 | 1 | a van Guelpen, Bethanyu Umeå universitet,Onkologi4 aut0 (Swepub:umu)beyvan99 |
| 700 | 1 | a Visvanathan, Kalau Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health, MD, Baltimore, United States4 aut |
| 700 | 1 | a Vodicka, Pavelu Department of Molecular Biology of Cancer, Institute of Experimental Medicine of the Czech Academy of Sciences, Prague, Czech Republic; Institute of Biology and Medical Genetics, First Faculty of Medicine, Charles University, Prague, Czech Republic4 aut |
| 700 | 1 | a Vodickova, Ludmilau Department of Molecular Biology of Cancer, Institute of Experimental Medicine of the Czech Academy of Sciences, Prague, Czech Republic; Institute of Biology and Medical Genetics, First Faculty of Medicine, Charles University, Prague, Czech Republic4 aut |
| 700 | 1 | a Vymetalkova, Veronika4 aut |
| 700 | 1 | a Wang, Xiaolongu Division of Public Health Sciences, Fred Hutchinson Cancer Research Center, WA, Seattle, United States4 aut |
| 700 | 1 | a White, Emilyu Division of Public Health Sciences, Fred Hutchinson Cancer Research Center, WA, Seattle, United States; Department of Epidemiology, University of Washington School of Public Health, WA, Seattle, United States4 aut |
| 700 | 1 | a Wolk, Alicjau Karolinska Institutet,Institute of Environmental Medicine, Karolinska Institutet, Stockholm, Sweden4 aut0 (Swepub:uu)alwol516 |
| 700 | 1 | a Woods, Michael Ou Memorial University of Newfoundland, Discipline of Genetics, St John's, NL, Canada4 aut |
| 700 | 1 | a Casey, Grahamu Center for Public Health Genomics, University of Virginia, VA, Charlottesville, United States4 aut |
| 700 | 1 | a Hsu, Li4 aut |
| 700 | 1 | a Jenkins, Mark Au Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Victoria, Melbourne, Australia4 aut |
| 700 | 1 | a Gruber, Stephen B4 aut |
| 700 | 1 | a Peters, Ulrikeu Division of Public Health Sciences, Fred Hutchinson Cancer Research Center, WA, Seattle, United States; Department of Epidemiology, University of Washington School of Public Health, WA, Seattle, United States4 aut |
| 700 | 1 | a Zheng, Weiu Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, and Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, TN, Nashville, United States4 aut |
| 710 | 2 | a Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, and Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, TN, Nashville, United Statesb The Kidney Disease Center, the First Affiliated Hospital, Institute of Translational Medicine, Zhejiang University School of Medicine, Hangzhou, China4 org |
| 773 | 0 | t Gastroenterologyd : Elsevierg 160:4, s. 1164-1178q 160:4<1164-1178x 0016-5085x 1528-0012 |
| 856 | 4 | u http://www.gastrojournal.org/article/S0016508520352434/pdf |
| 856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-427550 |
| 856 | 4 8 | u https://doi.org/10.1053/j.gastro.2020.08.062 |
| 856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:146188541 |
| 856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-180798 |
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