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Hypertension screening and cardiovascular risk profiling in Vietnam

Nursing and health sciences 2003年第4期5卷 269-273页

作者： Duong, Diep N. Ryan, Rebecca Vo, Dai T. Tran, Thuan T. Uniformed Services University of the Health Sciences TriService Nursing Research Program Bethesda MD 20814 4301 Jones Bridge Road United States University of South Alabama College of Nursing Mobile AL United States Texas Tech. Univ. Hlth. Sci. Center Department of Internal Medicine Odessa TX United States University of Medicine and Pharmacy Fac. of Nursing/Medical Technology Ho Chi Minh City Viet Nam

The purpose of the present descriptive study was to determine the risks associated with hypertension in Vietnamese communities around Ho Chi Minh City, Vietnam. The 357 volunteers for this health promotion screening consisted of 125 men and 232 women, 19-85 years of age. Participants completed surveys on their cardiovascular health history, health practices and hypertension knowledge. Nearly one-third of the sample was found to have systolic blood pressure (SBP) above 139 mmHg and/or diastolic blood pressure (DBP) above 89 mmHg. Fifteen participants had either SBP over 180 mmHg or DBP over 108 mmHg, nine of these 15 participants were taking antihypertensive drugs and 76 were taking other cardiac medications. The majority (98%) cooked with salt and 75% added salt when eating. Drinking alcohol (21%) and smoking (23%) were more common in male participants. Knowledge of cardiovascular risks was very low, indicating a need for community health promotion activities with educational campaigns and further screenings.

关键词： Blood pressure Cardiovascular risks health promotion Hypertension screening Vietnam

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Genetically predicted circulating concentrations of micronutrients and risk of colorectal cancer among individuals of European descent: a Mendelian randomization study (vol 113, pg 1490, 2021)

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AMERICAN JOURNAL OF CLINICAL NUTRITION 2021年第6期113卷 1715-1715页

作者： Tsilidis, K. K. Department of Hygiene and Epidemiology University of Ioannina School of Medicine Ioannina Greece Department of Epidemiology and Biostatistics School of Public Health Imperial College London London United Kingdom Section of Nutrition and Metabolism International Agency for Research on Cancer Lyon France Department of Population Health Sciences Bristol Medical School University of Bristol Bristol United Kingdom Medical Research Council Integrative Epidemiology Unit Department of Population Health Sciences Bristol Medical School University of Bristol Bristol United Kingdom University Hospitals Bristol National Health Service Foundation Trust National Institute for Health Research Bristol Biomedical Research Centre University of Bristol Bristol United Kingdom Medical Research Council Biostatistics Unit School of Clinical Medicine University of Cambridge Cambridge United Kingdom Department of Preventive Medicine and Community Health The University of Texas Medical Branch Galveston TX USA Nuffield Department of Population Health University of Oxford Oxford United Kingdom Division of Human Nutrition and Health Wageningen University & Research Wageningen Netherlands Division of Cancer Epidemiology and Genetics National Cancer Institute NIH Bethesda MD USA Division of Clinical Epidemiology and Aging Research German Cancer Research Center (DKFZ) Heidelberg Germany Medical Genetics Service University Hospital Center (CHU) Nantes Nantes France Leeds Institute of Cancer and Pathology University of Leeds Leeds United Kingdom Huntsman Cancer Institute University of Utah Salt Lake City UT USA Department of Population Health Sciences University of Utah Salt Lake City UT USA Division of Preventive Oncology German Cancer Research Center (DKFZ) and National Center for Tumor Diseases (NCT) Heidelberg Germany German Cancer Consortium (DKTK) German Cancer Research Center (DKFZ) Heidelberg Germany Institute for Health Research Kaiser Permanente Colorado Denver CO USA Be

Background The literature on associations of circulating concentrations of minerals and vitamins with risk of colorectal cancer is limited and inconsistent. Evidence from randomized controlled trials (RCTs) to support the efficacy of dietary modification or nutrient supplementation for colorectal cancer prevention is also *** To complement observational and RCT findings, we investigated associations of genetically predicted concentrations of 11 micronutrients (β-carotene, calcium, copper, folate, iron, magnesium, phosphorus, selenium, vitamin B-6, vitamin B-12, and zinc) with colorectal cancer risk using Mendelian randomization (MR).Methods Two-sample MR was conducted using 58,221 individuals with colorectal cancer and 67,694 controls from the Genetics and Epidemiology of Colorectal Cancer Consortium, Colorectal Cancer Transdisciplinary Study, and Colon Cancer Family Registry. Inverse variance-weighted MR analyses were performed with sensitivity analyses to assess the impact of potential violations of MR *** Nominally significant associations were noted for genetically predicted iron concentration and higher risk of colon cancer [ORs per SD (ORSD): 1.08; 95% CI: 1.00, 1.17; P value = 0.05] and similarly for proximal colon cancer, and for vitamin B-12 concentration and higher risk of colorectal cancer (ORSD: 1.12; 95% CI: 1.03, 1.21; P value = 0.01) and similarly for colon cancer. A nominally significant association was also noted for genetically predicted selenium concentration and lower risk of colon cancer (ORSD: 0.98; 95% CI: 0.96, 1.00; P value = 0.05) and similarly for distal colon cancer. These associations were robust to sensitivity analyses. Nominally significant inverse associations were observed for zinc and risk of colorectal and distal colon cancers, but sensitivity analyses could not be performed. None of these findings survived correction for multiple testing. Genetically predicted concentrations of β-carotene, calcium, c

关键词： Mendelian randomization genes nutrition supplements colorectal cancer

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Corrigendum to “Complete inactivation of venezuelan equine encephalitis virus by 1,5-iodonaphthylazide” [Biochem. Biophys. Res. Commun. 358 (2007) 392–398]

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Biochemical and Biophysical Research Communications 2008年第2期368卷 453-453页

作者： Anuj Sharma Yossef Raviv Anu Puri Mathias Viard Robert Blumenthal Radha K. Maheshwari Centre for Combat Casualty and Life Sustainment Research Department of Pathology Uniformed Services University of the Health Sciences 4301 Jones Bridge Road Bethesda MD 20814 USA Birla Institute of Technology and Science Pilani India CCR Nanobiology Program Centre for Cancer Research National Cancer Research Institute Frederick MD USA Basic Research Program SAIC-Frederick Inc. Frederick MD USA

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Development of multiplex serological assays to detect oncoviral infections

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Infectious Agents and Cancer 2012年第1期7卷 1-1页

作者： William E Burgan Katie Beam Matthew Bess Allison Meade Rachel K Bagni Katie Wakeham Robert Newton Denise Whitby Protein Expression Laboratory Advanced Technology Program SAIC-Frederick Frederick MD USA Medical Research Council/Uganda Virus Research Institute Uganda Research Unit on AIDS Entebbe Uganda Africa Epidemiology and Genetics Unit Department of Health Sciences University of York York UK Viral Oncology Section AIDS and Cancer Virus Program SAIC-Frederick Frederick MD USA

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Interactive 3D Segmentation for Primary Gross Tumor Volume in Oropharyngeal Cancer

arXiv

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arXiv 2024年

作者： Saukkoriipi, Mikko Sahlsten, Jaakko Jaskari, Joel Orsmaa, Lotta Kangas, Jari Rasouli, Nastaran Raisamo, Roope Hirvonen, Jussi Mehtonen, Helena Järnstedt, Jorma Mäkitie, Antti Naser, Mohamed Fuller, Clifton Kann, Benjamin Kaski, Kimmo Department of Computer Science Aalto University School of Science Espoo Finland Faculty of Information Technology and Communication Sciences Computing Sciences University of Tampere Tampere Finland Department of Radiology Tampere University Faculty of Medicine and Health Technology Tampere University Hospital Tampere Finland Department of Otorhinolaryngology-Head and Neck Surgery Research Program in Systems Oncology Faculty of Medicine University of Helsinki Helsinki University Hospital Helsinki Finland Department of Radiation Oncology The University of Texas MD Anderson Cancer Center HoustonTX United States Artificial Intelligence in Medicine Program Mass General Brigham Harvard Medical School BostonMA United States Department of Radiation Oncology Dana-Farber Cancer Institute Brigham and Women's Hospital Harvard Medical School BostonMA United States The Alan Turing Institute British Library 96 Euston Rd LondonNW1 2DB United Kingdom

The main treatment modality for oropharyngeal cancer (OPC) is radiotherapy, where accurate segmentation of the primary gross tumor volume (GTVp) is essential. However, accurate GTVp segmentation is challenging due to significant interobserver variability and the time-consuming nature of manual annotation, while fully automated methods can occasionally fail. An interactive deep learning (DL) model offers the advantage of automatic high-performance segmentation with the flexibility for user correction when necessary. In this study, we examine interactive DL for GTVp segmentation in OPC. We implement state-of-the-art algorithms and propose a novel two-stage Interactive Click Refinement (2S-ICR) framework. Using the 2021 HEad and neCK TumOR (HECKTOR) dataset for development and an external dataset from The University of Texas md Anderson Cancer Center for evaluation, the 2S-ICR framework achieves a Dice similarity coefficient of 0.713 ± 0.152 without user interaction and 0.824 ± 0.099 after five interactions, outperforming existing methods in both cases. Copyright © 2024, The Authors. All rights reserved.

关键词： Deep learning

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Authors’ Response to Peer Reviews of “The Role of Animal-Assisted Therapy in Enhancing Patients’ Well-Being: Systematic Study of the Qualitative and Quantitative Evidence”

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JMIRx Med 2024年 5卷

作者： Ramendra Pati Pandey Himanshu Gunjan Riya Mukherjee Chung-Ming Chang School of Health Sciences & Technology University of Petroleum and Energy Studies Dehradun Uttarakhand India Graduate Institute of Biomedical Sciences Chang Gung University Taoyuan Taiwan Master & PhD Program in Biotechnology Industry Chang Gung University Taoyuan Taiwan Department of Medical Biotechnology and Laboratory Science Chang Gung University Taoyuan Taiwan

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Author Correction: π-HuB: the proteomic navigator of the human body

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Nature 2025年第8046期637卷 E22页

作者： Fuchu He Ruedi Aebersold Mark S Baker Xiuwu Bian Xiaochen Bo Daniel W Chan Cheng Chang Luonan Chen Xiangmei Chen Yu-Ju Chen Heping Cheng Ben C Collins Fernando Corrales Jürgen Cox Weinan E Jennifer E Van Eyk Jia Fan Pouya Faridi Daniel Figeys George Fu Gao Wen Gao Zu-Hua Gao Keisuke Goda Wilson Wen Bin Goh Dongfeng Gu Changjiang Guo Tiannan Guo Yuezhong He Albert J R Heck Henning Hermjakob Tony Hunter Narayanan Gopalakrishna Iyer Ying Jiang Connie R Jimenez Lokesh Joshi Neil L Kelleher Ming Li Yang Li Qingsong Lin Cui Hua Liu Fan Liu Guang-Hui Liu Yansheng Liu Zhihua Liu Teck Yew Low Ben Lu Matthias Mann Anming Meng Robert L Moritz Edouard Nice Guang Ning Gilbert S Omenn Christopher M Overall Giuseppe Palmisano Yaojin Peng Charles Pineau Terence Chuen Wai Poon Anthony W Purcell Jie Qiao Roger R Reddel Phillip J Robinson Paola Roncada Chris Sander Jiahao Sha Erwei Song Sanjeeva Srivastava Aihua Sun Siu Kwan Sze Chao Tang Liujun Tang Ruijun Tian Juan Antonio Vizcaíno Chanjuan Wang Chen Wang Xiaowen Wang Xinxing Wang Yan Wang Tobias Weiss Mathias Wilhelm Robert Winkler Bernd Wollscheid Limsoon Wong Linhai Xie Wei Xie Tao Xu Tianhao Xu Liying Yan Jing Yang Xiao Yang John Yates Tao Yun Qiwei Zhai Bing Zhang Hui Zhang Lihua Zhang Lingqiang Zhang Pingwen Zhang Yukui Zhang Yu Zi Zheng Qing Zhong Yunping Zhu State Key Laboratory of Medical Proteomics Beijing Proteome Research Center National Center for Protein Sciences (Beijing) Beijing Institute of Lifeomics Beijing China. hefc@***. International Academy of Phronesis Medicine (Guangdong) Guangdong China. hefc@***. Department of Biology Institute of Molecular Systems Biology ETH Zurich Zurich Switzerland. aebersold@imsb.biol.ethz.ch. Macquarie Medical School Macquarie University Sydney New South Wales Australia. Institute of Pathology and Southwest Cancer Center Southwest Hospital Third Military Medical University (Army Medical University) and Key Laboratory of Tumor Immunopathology Ministry of Education of China Chongqing China. Institute of Health Service and Transfusion Medicine Beijing China. Department of Pathology and The Sidney Kimmel Comprehensive Cancer Center Johns Hopkins University Baltimore MD USA. State Key Laboratory of Medical Proteomics Beijing Proteome Research Center National Center for Protein Sciences (Beijing) Beijing Institute of Lifeomics Beijing China. Key Laboratory of Systems Biology Center for Excellence in Molecular Cell Science Shanghai Institute of Biochemistry and Cell Biology Chinese Academy of Sciences Shanghai China. Department of Nephrology First Medical Center of Chinese PLA General Hospital Nephrology Institute of the Chinese People's Liberation Army State Key Laboratory of Kidney Diseases National Clinical Research Center for Kidney Diseases Beijing Key Laboratory of Kidney Disease Research Beijing China. Institute of Chemistry Academia Sinica Taipei China. National Biomedical Imaging Center State Key Laboratory of Membrane Biology Institute of Molecular Medicine Peking-Tsinghua Center for Life Sciences College of Future Technology Peking University Beijing China. School of Biological Sciences Queen's University of Belfast Belfast UK. Functional Proteomics Laboratory Centro Nacional de Biotecnología-CSIC Madrid Spain. Computational Systems Biochemistry Research Group Ma

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Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity (vol 50, pg 765, 2017)

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NATURE GENETICS 2018年第5期50卷 765-766页

作者： Turcot, Valerie Lu, Yingchang Highland, Heather M. Schurmann, Claudia Justice, Anne E. Fine, Rebecca S. Bradfield, Jonathan P. Esko, Tonu Giri, Ayush Graff, Mariaelisa Guo, Xiuqing Hendricks, Audrey E. Karaderi, Tugce Lempradl, Adelheid Locke, Adam E. Mahajan, Anubha Marouli, Eirini Sivapalaratnam, Suthesh Young, Kristin L. Alfred, Tamuno Feitosa, Mary F. Masca, Nicholas G. D. Manning, Alisa K. Medina-Gomez, Carolina Mudgal, Poorva Ng, Maggie C. Y. Reiner, Alex P. Vedantam, Sailaja Willems, Sara M. Winkler, Thomas W. Abecasis, Goncalo Aben, Katja K. Alam, Dewan S. Alharthi, Sameer E. Allison, Matthew Amouyel, Philippe Asselbergs, Folkert W. Auer, Paul L. Balkau, Beverley Bang, Lia E. Barroso, Ines Bastarache, Lisa Benn, Marianne Bergmann, Sven Bielak, Lawrence F. Bluher, Matthias Boehnke, Michael Boeing, Heiner Boerwinkle, Eric Boger, Carsten A. Bork-Jensen, Jette Bots, Michiel L. Bottinger, Erwin P. Bowden, Donald W. Brandslund, Ivan Breen, Gerome Brilliant, Murray H. Broer, Linda Brumat, Marco Burt, Amber A. Butterworth, Adam S. Campbell, Peter T. Cappellani, Stefania Carey, David J. Catamo, Eulalia Caulfield, Mark J. Chambers, John C. Chasman, Daniel I. Chen, Yii-Der I. Chowdhury, Rajiv Christensen, Cramer Chu, Audrey Y. Cocca, Massimiliano Collins, Francis S. Cook, James P. Corley, Janie Galbany, Jordi Corominas Cox, Amanda J. Crosslin, David S. Cuellar-Partida, Gabriel D'Eustacchio, Angela Danesh, John Davies, Gail Bakker, Paul I. W. Groot, Mark C. H. Mutsert, Renee Deary, Ian J. Dedoussis, George Demerath, Ellen W. Heijer, Martin Hollander, Anneke I. Ruijter, Hester M. Dennis, Joe G. Denny, Josh C. Angelantonio, Emanuele Drenos, Fotios Du, Mengmeng Dube, Marie-Pierre Dunning, Alison M. Easton, Douglas F. Edwards, Todd L. Ellinghaus, David Ellinor, Patrick T. Elliott, Paul Evangelou, Evangelos Farmaki, Aliki-Eleni Farooqi, I. Sadaf Faul, Jessica D. Fauser, Sascha Feng, Shuang Ferrannini, Ele Ferrieres, Jean Florez, Jose C. Ford, Ian Fornage, Myriam Franco, Oscar H. Franke, Andre Franks, Paul W. Friedrich, Ne Montreal Heart Institute Université de Montréal Montreal Quebec Canada Division of Epidemiology Department of Medicine Vanderbilt-Ingram Cancer Center Vanderbilt Epidemiology Center Vanderbilt University School of Medicine Nashville TN USA Charles Bronfman Institute for Personalized Medicine Icahn School of Medicine at Mount Sinai New York NY USA Genetics of Obesity and Related Metabolic Traits Program Icahn School of Medicine at Mount Sinai New York NY USA Department of Epidemiology University of North Carolina Chapel Hill NC USA Human Genetics Center University of Texas School of Public Health University of Texas MD Anderson Cancer Center UTHealth Graduate School of Biomedical Sciences University of Texas Health Science Center at Houston Houston TX USA Broad Institute of MIT and Harvard Cambridge MA USA Department of Genetics Harvard Medical School Boston MA USA Division of Endocrinology and Center for Basic and Translational Obesity Research Boston Children’s Hospital Boston MA USA Center for Applied Genomics Division of Human Genetics Children’s Hospital of Philadelphia Philadelphia PA USA Quantinuum Research LLC San Diego CA USA Estonian Genome Center University of Tartu Tartu Estonia Division of Epidemiology Department of Medicine Institute for Medicine and Public Health Vanderbilt Genetics Institute Vanderbilt University Nashville TN USA Institute for Translational Genomics and Population Sciences LABioMed at Harbor-UCLA Medical Center Torrance CA USA Wellcome Trust Sanger Institute Hinxton UK Department of Mathematical and Statistical Sciences University of Colorado Denver CO USA Wellcome Trust Centre for Human Genetics University of Oxford Oxford UK Department of Biological Sciences Faculty of Arts and Sciences Eastern Mediterranean University Famagusta Cyprus Max Planck Institute of Immunobiology and Epigenetics Freiburg Germany Department of Biostatistics and Center for Statistical Genetics University of Michigan Ann Arbor

Genome-wide association studies (GWAS) have identified >250 loci for body mass index (BMI), implicating pathways related to neuronal biology. Most GWAS loci represent clusters of common, noncoding variants from which pinpointing causal genes remains challenging. Here we combined data from 718,734 individuals to discover rare and low-frequency (minor allele frequency (MAF) < 5%) coding variants associated with BMI. We identified 14 coding variants in 13 genes, of which 8 variants were in genes (ZBTB7B, ACHE, RAPGEF3, RAB21, ZFHX3, ENTPD6, ZFR2 and ZNF169) newly implicated in human obesity, 2 variants were in genes (MC4R and KSR2) previously observed to be mutated in extreme obesity and 2 variants were in GIPR. The effect sizes of rare variants are ~10 times larger than those of common variants, with the largest effect observed in carriers of an MC4R mutation introducing a stop codon (***35Ter, MAF = 0.01%), who weighed ~7 kg more than non-carriers. Pathway analyses based on the variants associated with BMI confirm enrichment of neuronal genes and provide new evidence for adipocyte and energy expenditure biology, widening the potential of genetically supported therapeutic targets in obesity.

关键词： Genome-wide association studies Obesity

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Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries (vol 55, pg 89, 2023)

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NATURE GENETICS 2023年第3期55卷 519-520页

作者： Fernandez-Rozadilla, Ceres Timofeeva, Maria Chen, Zhishan Law, Philip Thomas, Minta Schmit, Stephanie Diez-Obrero, Virginia Hsu, Li Fernandez-Tajes, Juan Palles, Claire Sherwood, Kitty Briggs, Sarah Svinti, Victoria Donnelly, Kevin Farrington, Susan Blackmur, James Vaughan-Shaw, Peter Shu, Xiao-ou Long, Jirong Cai, Qiuyin Guo, Xingyi Lu, Yingchang Broderick, Peter Studd, James Huyghe, Jeroen Harrison, Tabitha Conti, David Dampier, Christopher Devall, Mathew Schumacher, Fredrick Melas, Marilena Rennert, Gad Obon-Santacana, Mireia Martin-Sanchez, Vicente Moratalla-Navarro, Ferran Oh, Jae Hwan Kim, Jeongseon Jee, Sun Ha Jung, Keum Ji Kweon, Sun-Seog Shin, Min-Ho Shin, Aesun Ahn, Yoon-Ok Kim, Dong-Hyun Oze, Isao Wen, Wanqing Matsuo, Keitaro Matsuda, Koichi Tanikawa, Chizu Ren, Zefang Gao, Yu-Tang Jia, Wei-Hua Hopper, John Jenkins, Mark Win, Aung Ko Pai, Rish Figueiredo, Jane Haile, Robert Gallinger, Steven Woods, Michael Newcomb, Polly Duggan, David Cheadle, Jeremy Kaplan, Richard Maughan, Timothy Kerr, Rachel Kerr, David Kirac, Iva Bohm, Jan Mecklin, Lukka-Pekka Jousilahti, Pekka Knekt, Paul Aaltonen, Lauri Rissanen, Harri Pukkala, Eero Eriksson, Johan Cajuso, Tatiana Hanninen, Ulrika Kondelin, Johanna Palin, Kimmo Tanskanen, Tomas Renkonen-Sinisalo, Laura Zanke, Brent Mannisto, Satu Albanes, Demetrius Weinstein, Stephanie Ruiz-Narvaez, Edward Palmer, Julie Buchanan, Daniel Platz, Elizabeth Visvanathan, Kala Ulrich, Cornelia Siegel, Erin Brezina, Stefanie Gsur, Andrea Campbell, Peter Chang-Claude, Jenny Hoffmeister, Michael Brenner, Hermann Slattery, Martha Potter, John Tsilidis, Konstantinos Schulze, Matthias Gunter, Marc Murphy, Neil Castells, Antoni Castellvi-Bel, Sergi Moreira, Leticia Arndt, Volker Shcherbina, Anna Stern, Mariana Pardamean, Bens Bishop, Timothy Giles, Graham Southey, Melissa Idos, Gregory McDonnell, Kevin Abu-Ful, Zomoroda Greenson, Joel Shulman, Katerina Lejbkowicz, Flavio Offit, Kenneth Su, Yu-Ru Steinfelder, Robert Keku, Temitope van Guelpen, Bethany Hudson, Thomas Hampel, Heather Pearlman, Edinburgh Cancer Research Centre Institute of Genomics and Cancer University of Edinburgh Edinburgh UK Genomic Medicine Group Instituto de Investigacion Sanitaria de Santiago Santiago de Compostela Spain Colon Cancer Genetics Group Medical Research Council Human Genetics Unit Institute of Genetics and Cancer University of Edinburgh Edinburgh UK Danish Institute for Advanced Study Department of Public Health University of Southern Denmark Odense Denmark Division of Epidemiology Department of Medicine Vanderbilt-Ingram Cancer Center Vanderbilt Epidemiology Center Vanderbilt University Medical Center Nashville TN USA Division of Genetics and Epidemiology Institute of Cancer Research London UK Public Health Sciences Division Fred Hutchinson Cancer Research Center Seattle WA USA Genomic Medicine Institute Cleveland Clinic Cleveland OH USA Population and Cancer Prevention Program Case Comprehensive Cancer Center Cleveland OH USA Colorectal Cancer Group ONCOBELL Program Bellvitge Biomedical Research Institute Barcelona Spain Oncology Data Analytics Program Catalan Institute of Oncology Barcelona Spain Consortium for Biomedical Research in Epidemiology and Public Health Madrid Madrid Spain Department of Clinical Sciences Faculty of Medicine University of Barcelona Barcelona Spain Department of Biostatistics School of Public Health University of Washington Seattle WA USA Institute of Cancer and Genomic Sciences College of Medical and Dental Sciences University of Birmingham Birmingham UK Department of Public Health Richard Doll Building University of Oxford Oxford UK Department of Biomedical Informatics Vanderbilt University School of Medicine Nashville TN USA Department of Preventive Medicine USC Norris Comprehensive Cancer Center Keck School of Medicine University of Southern California Los Angeles CA USA Center for Public Health Genomics Department of Public Health Sciences University of Virginia Charlottesville VA USA Department of Populat

Colorectal cancer (CRC) is a leading cause of mortality worldwide. We conducted a genome-wide association study meta-analysis of 100,204 CRC cases and 154,587 controls of European and east Asian ancestry, identifying 205 independent risk associations, of which 50 were unreported. We performed integrative genomic, transcriptomic and methylomic analyses across large bowel mucosa and other tissues. Transcriptome- and methylome-wide association studies revealed an additional 53 risk associations. We identified 155 high-confidence effector genes functionally linked to CRC risk, many of which had no previously established role in CRC. These have multiple different functions and specifically indicate that variation in normal colorectal homeostasis, proliferation, cell adhesion, migration, immunity and microbial interactions determines CRC risk. Crosstissue analyses indicated that over a third of effector genes most probably act outside the colonic mucosa. Our findings provide insights into colorectal oncogenesis and highlight potential targets across tissues for new CRC treatment and chemoprevention strategies.

关键词： Colorectal cancer Epigenomics Genome-wide association studies Transcriptomics

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Untitled

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SCIENCE 2022年第6615期378卷 22-22页

作者： Sills, Jennifer Division of Life Sciences and Medicine University of Science and Technology of China Hefei Anhui 230027 China. Department of Surgery Harvard University Brigham and Women’s Hospital Boston MA 02115 USA. Faculty of Applied Science Macao Polytechnic University Macao SR China. School of Liberal Education Chengdu Jincheng College Chengdu Sichuan 611731 China. Translational Health Science and Technology Institute Faridabad Haryana 121001 India. Department of Chemical Engineering University of Washington Seattle WA 98105 USA. Johns Hopkins University Baltimore MD 21218 USA. The Affiliated Hospital Guizhou Medical University Guiyang Guizhou 550004 China. Department of Infectious Disease Epidemiology Imperial College London London W2 1PG UK. Manchester Fungal Infection Group University of Manchester Manchester UK. Philadelphia PA USA. Harrisburg PA 17102 USA. Department of Chemistry University of Pennsylvania Philadelphia PA 19104 USA. University of Kansas Lawrence KS 66045 USA. Mott MacDonald Noida UP 201010 India. Trudeau Institute Saranac Lake NY 12983 USA. US Department of Agriculture Parlier CA 93648 USA. Vagelos Molecular Life Sciences Program University of Pennsylvania Philadelphia PA 19104 USA. School of Information Systems and Technology Management University of New South Wales Sydney NSW 2052 Australia.

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