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The development of virtual laboratory on fluid materials

Journal of Physics: Conference Series 2019年第5期1280卷

作者： E D Jannati A Setiawan P Siahaan C Rochman D Susanti Y Samantha Mechanical Engineering Study Program Majalengka University Majalengka Indonesia Department of Mechanical Engineering Education Universitas Pendidikan Indonesia Bandung Indonesia Department of Physics Education Universitas Pendidikan Indonesia Bandung Indonesia Department of Physics Education UIN Sunan Gunung Djati Bandung Indonesia Department of Informatics Engineering Majalengka University Majalengka Indonesia

This study aims to study the development of laboratory learning media on the concept of fluids. The method used in this study is the research and development (R & D) method of implementation up to step 7, namely: (1) literature study, (2) needs analysis, (3) design of virtual lab learning media, (4) development of lab learning media virtual, (5) validation, (6) product testing, (7) product revision. Virtual laboratory learning media, have gone through a phase validation test by two material experts and one media expert who showed that laboratory learning media on fluid materials are feasible to be applied in learning. the results of sponsored pretest and posttest for students showed a significant increase. Recommended to be applied in a virtual learning laboratory is suitable to be applied in the Faculty of Engineering, Majalengka University.

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Comparative analysis of gameplay and players emotion in the most popular games from play store

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Journal of Physics: Conference Series 2018年第1期978卷

作者： Riwinoto N Mahfud L Lumombo Batam State Polytechnic Informatics Department Multimedia and Networking Engineering Study Program Jalan Ahmad Yani Batam Centre Batam 29461 Indonesia

The development of the android mobile operating system and the presence of Play Store services poses challenges for developers to produce exciting mobile games. Although publishing games in Play Store is not difficult, in fact developers have to face tough competition to make homemade games can become popular. This study analyzes the gameplay of three popular paid-free games in Play Store that can survive for a period of one year from the top 10 positions in October 2015- November 2016. Analysis performed on 8 elements of the game based on the definition of Fullerton and emotional expression analysis of respondents who appeared while playing the three choosen games. The analysis shows that scarce resources are the main attraction of all three games because they create conflicts, giving constraints and challenges to players. The multiplayer game has a pattern of results and the result makes the opponent become more negative than the player to win. While the single player game is analyzed has a pattern to make the player get positive to win. There are 3 basic emotions that most often appear that is joy, disgust and surprise. Multiplayer games tend to emphasize the emotions of joy players, while single player games tend to bring disgust emotions.

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Selecting multiple intelligences on children with weighted product, analytical hierarchy process, simple additive weighting and TOPSIS

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Journal of Physics: Conference Series 2019年第7期1402卷

作者： M Ahsan W Setiyaningsih M Susilowati R Dijaya P H Tjahjanti Informatics Study Program Faculty of Science and Technology Universitas Kanjuruhan Malang Jl. S. Supriadi No. 48 Malang Jawa Timur Indonesia Program Studi Sistem Informasi Fakultas Sain dan Teknologi Universitas Ma Chung Malang Jl. Villa Puncak Tidar Blok N No. 1 Dau Malang Jawa Timur Indonesia Universitas Muhammadiyah Sidoarjo Jl. Mojopahit No 666 B Sidoarjo Jawa Timur-Indonesia

Multiple intelligence is intelligence possessed by every human being, among these intelligences are linguistic intelligence, musical intelligence, naturalist intelligence, visual-spatial intelligence, logic-mathematical intelligence, interpersonal intelligence, intrapersonal intelligence, and kinesthesis intelligence. Various methods are carried out by researchers to find out intelligence such as through numbers, images, music, words, physical and social-emotional activities. The purpose of this study is to decide and classify student intelligence based on multiple intelligence. The method used is Weighted Product (WP), Analytic Hierarchy Process (AHP) Simple Additive Weighting Method (SAW), ELimination Et Choix TRADITIONAL REAL (ELECTRE), Technique for Order Preference by Similarity to Ideal Solution (TOPSIS). The four methods are a method that is in MADM and there have been many studies related to that method but no one has examined the determination of multiple intelligence related to these four methods. The results of the Weighted Product method calculation have the highest preference value 0.189261912 namely Verbal-Linguistic Intelligence, Analytical Hierarchy Process Method has the highest preference value 0.294117647 Verbal-Linguistic Intelligence, Simple Additive Weighting method has the highest preference value 0.677316667 verbal-Linguistic Intelligence and Technique for Order Preference by Similarity to Ideal Solution method has the highest value 0.679314281 Verbal-Linguistic Intelligence.

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Publisher Correction: Statistically and functionally fine-mapped blood eQTLs and pQTLs from 1,405 humans reveal distinct regulation patterns and disease relevance

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Nature genetics 2024年第10期56卷 2281页

作者： Qingbo S Wang Takanori Hasegawa Ho Namkoong Ryunosuke Saiki Ryuya Edahiro Kyuto Sonehara Hiromu Tanaka Shuhei Azekawa Shotaro Chubachi Yugo Takahashi Saori Sakaue Shinichi Namba Kenichi Yamamoto Yuichi Shiraishi Kenichi Chiba Hiroko Tanaka Hideki Makishima Yasuhito Nannya Zicong Zhang Rika Tsujikawa Ryuji Koike Tomomi Takano Makoto Ishii Akinori Kimura Fumitaka Inoue Takanori Kanai Koichi Fukunaga Seishi Ogawa Seiya Imoto Satoru Miyano Yukinori Okada Department of Genome Informatics Graduate School of Medicine University of Tokyo Tokyo Japan. qingbow@m.u-tokyo.ac.jp. Department of Statistical Genetics Osaka University Graduate School of Medicine Suita Japan. qingbow@m.u-tokyo.ac.jp. M&D Data Science Center Tokyo Medical and Dental University Tokyo Japan. Department of Infectious Diseases Keio University School of Medicine Tokyo Japan. hounamugun@keio.jp. Department of Pathology and Tumor Biology Kyoto University Kyoto Japan. Department of Statistical Genetics Osaka University Graduate School of Medicine Suita Japan. Department of Respiratory Medicine and Clinical Immunology Osaka University Graduate School of Medicine Suita Japan. Department of Genome Informatics Graduate School of Medicine University of Tokyo Tokyo Japan. Division of Pulmonary Medicine Department of Medicine Keio University School of Medicine Tokyo Japan. Faculty of Medicine Osaka University Suita Japan. Center for Data Sciences Brigham and Women's Hospital Harvard Medical School Boston MA USA. Divisions of Genetics and Rheumatology Department of Medicine Brigham and Women's Hospital Harvard Medical School Boston MA USA. Program in Medical and Population Genetics Broad Institute of MIT and Harvard Cambridge MA USA. Laboratory of Children's Health and Genetics Division of Health Science Osaka University Graduate School of Medicine Suita Japan. Department of Pediatrics Osaka University Graduate School of Medicine Suita Japan. Division of Genome Analysis Platform Development National Cancer Center Research Institute Tokyo Japan. Institute for the Advanced Study of Human Biology (WPI-ASHBi) Kyoto University Kyoto Japan. Health Science Research and Development Center (HeRD) Tokyo Medical and Dental University Tokyo Japan. Laboratory of Veterinary Infectious Disease Department of Veterinary Medicine Kitasato University Tokyo Japan. Department of Respiratory Medicine Nagoya University Graduate School of Medicine Nagoya Japan. In

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Carrying Javanese Local Wisdom In Mathematical Model

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Journal of Physics: Conference Series 2019年第1期1179卷

作者： A Prabowo M Mamat Sukono Ngadiman Department of Mathematics Faculty of Mathematics and Natural Sciences Universitas Jenderal Soedirman Indonesia. Faculty of Informatics and Computing Universiti Sultan Zainal Abidin Kuala Terengganu Terengganu Darul Iman Malaysia Department of Mathematics Faculty of Mathematics and Natural Sciences Universitas Padjadjaran West Java Indonesia. Physical Health and Recreation Education Study Program Faculty of Health Sciences Universitas Jenderal Soedirman Purwokerto Central Java Indonesia.

People of Cikakak Traditional Village, Wangon District, Banyumas Regency, Central Java Province are known as the followers of Islam Aboge (Alif Rebo Wage). Their religious holidays such as the beginning of fasting month (Ramadan) and Eid al-Fitr are determined based on the rules they have been using so far, namely Month Code or Sandi Bulan and Year Code or Sandi Tahun. This research is conducted using literature study method and field study in the form of interview with respondents. This research aims at producing a mathematical model which matches the function of these two codes. The results obtained are five mathematical equations to determine the names of year, saptawara and pancawara days for the 1st day of each month, and saptawara and pancawara days for other dates.

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Polygenic risk modeling for prediction of epithelial ovarian cancer risk (vol 30, pg 349, 2021)

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EUROPEAN JOURNAL OF HUMAN GENETICS 2022年第5期30卷 630-631页

作者： Dareng, Eileen O. Tyrer, Jonathan P. Barnes, Daniel R. Jones, Michelle R. Yang, Xin Aben, Katja K. H. Adank, Muriel A. Agata, Simona Andrulis, Irene L. Anton-Culver, Hoda Antonenkova, Natalia N. Aravantinos, Gerasimos Arun, Banu K. Augustinsson, Annelie Balmana, Judith Bandera, Elisa V. Barkardottir, Rosa B. Barrowdale, Daniel Beckmann, Matthias W. Beeghly-Fadiel, Alicia Benitez, Javier Bermisheva, Marina Bernardini, Marcus Q. Bjorge, Line Black, Amanda Bogdanova, Natalia V. Bonanni, Bernardo Borg, Ake Brenton, James D. Budzilowska, Agnieszka Butzow, Ralf Buys, Saundra S. Cai, Hui Caligo, Maria A. Campbell, Ian Cannioto, Rikki Cassingham, Hayley Chang-Claude, Jenny Chanock, Stephen J. Chen, Kexin Chiew, Yoke-Eng Chung, Wendy K. Claes, Kathleen B. M. Colonna, Sarah Cook, Linda S. Couch, Fergus J. Daly, Mary B. Dao, Fanny Davies, Eleanor de la Hoya, Miguel de Putter, Robin Dennis, Joe DePersia, Allison Devilee, Peter Diez, Orland Ding, Yuan Chun Doherty, Jennifer A. Domchek, Susan M. Dork, Thilo du Bois, Andreas Durst, Matthias Eccles, Diana M. Eliassen, Heather A. Engel, Christoph Evans, Gareth D. Fasching, Peter A. Flanagan, James M. Fortner, Renee T. Machackova, Eva Friedman, Eitan Ganz, Patricia A. Garber, Judy Gensini, Francesca Giles, Graham G. Glendon, Gord Godwin, Andrew K. Goodman, Marc T. Greene, Mark H. Gronwald, Jacek Hahnen, Eric Haiman, Christopher A. Hakansson, Niclas Hamann, Ute Hansen, Thomas V. O. Harris, Holly R. Hartman, Mikael Heitz, Florian Hildebrandt, Michelle A. T. Hogdall, Estrid Hogdall, Claus K. Hopper, John L. Huang, Ruea-Yea Huff, Chad Hulick, Peter J. Huntsman, David G. Imyanitov, Evgeny N. Isaacs, Claudine Jakubowska, Anna James, Paul A. Janavicius, Ramunas Jensen, Allan Johannsson, Oskar Th. John, Esther M. Jones, Michael E. Kang, Daehee Karlan, Beth Y. Karnezis, Anthony Kelemen, Linda E. Khusnutdinova, Elza Kiemeney, Lambertus A. Kim, Byoung-Gie Kjaer, Susanne K. Komenaka, Ian Kupryjanczyk, Jolanta Kurian, Allison W. Kwong, Ava Lambrechts, Diether Larson, Melissa C. Lazaro, Conxi L University of Cambridge Centre for Cancer Genetic Epidemiology Department of Public Health and Primary Care Cambridge UK University of Cambridge Centre for Cancer Genetic Epidemiology Department of Oncology Cambridge UK Center for Bioinformatics and Functional Genomics Cedars-Sinai Medical Center Los Angeles CA USA Radboud University Medical Center Radboud Institute for Health Sciences Nijmegen The Netherlands Netherlands Comprehensive Cancer Organisation Utrecht The Netherlands The Netherlands Cancer Institute—Antoni van Leeuwenhoek hospital Family Cancer Clinic Amsterdam The Netherlands Veneto Institute of Oncology IOV—IRCCS Immunology and Molecular Oncology Unit Padua Italy Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital Fred A. Litwin Center for Cancer Genetics Toronto ON Canada University of Toronto Department of Molecular Genetics Toronto ON Canada University of California Irvine Department of Epidemiology Genetic Epidemiology Research Institute Irvine CA USA N.N. Alexandrov Research Institute of Oncology and Medical Radiology Minsk Belarus ‘Agii Anargiri’ Cancer Hospital Athens Greece University of Texas MD Anderson Cancer Center Department of Breast Medical Oncology Houston TX USA Lund University Department of Cancer Epidemiology Clinical Sciences Lund Sweden Vall d’Hebron Institute of Oncology Hereditary cancer Genetics Group Barcelona Spain University Hospital of Vall d’Hebron Department of Medical Oncology Barcelona Spain Rutgers Cancer Institute of New Jersey Cancer Prevention and Control Program New Brunswick NJ USA Landspitali University Hospital Department of Pathology Reykjavik Iceland University of Iceland BMC (Biomedical Centre) Faculty of Medicine Reykjavik Iceland University Hospital Erlangen Friedrich-Alexander-University Erlangen-Nuremberg Department of Gynecology and Obstetrics Comprehensive Cancer Center ER-EMN Erlangen Germany Vanderbilt University School of Medicine Division of Epidemiology Department

Polygenic risk scores (PRS) for epithelial ovarian cancer (EOC) have the potential to improve risk stratification. Joint estimation of Single Nucleotide Polymorphism (SNP) effects in models could improve predictive performance over standard approaches of PRS construction. Here, we implemented computationally efficient, penalized, logistic regression models (lasso, elastic net, stepwise) to individual level genotype data and a Bayesian framework with continuous shrinkage, “select and shrink for summary statistics” (S4), to summary level data for epithelial non-mucinous ovarian cancer risk prediction. We developed the models in a dataset consisting of 23,564 non-mucinous EOC cases and 40,138 controls participating in the Ovarian Cancer Association Consortium (OCAC) and validated the best models in three populations of different ancestries: prospective data from 198,101 women of European ancestries; 7,669 women of East Asian ancestries; 1,072 women of African ancestries, and in 18,915 BRCA1 and 12,337 BRCA2 pathogenic variant carriers of European ancestries. In the external validation data, the model with the strongest association for non-mucinous EOC risk derived from the OCAC model development data was the S4 model (27,240 SNPs) with odds ratios (OR) of 1.38 (95% CI: 1.28–1.48, AUC: 0.588) per unit standard deviation, in women of European ancestries; 1.14 (95% CI: 1.08–1.19, AUC: 0.538) in women of East Asian ancestries; 1.38 (95% CI: 1.21–1.58, AUC: 0.593) in women of African ancestries; hazard ratios of 1.36 (95% CI: 1.29–1.43, AUC: 0.592) in BRCA1 pathogenic variant carriers and 1.49 (95% CI: 1.35–1.64, AUC: 0.624) in BRCA2 pathogenic variant carriers. Incorporation of the S4 PRS in risk prediction models for ovarian cancer may have clinical utility in ovarian cancer prevention programs.

关键词： Clinical genetics Genetic markers Risk factors Biomedicine general Human Genetics Bioinformatics Gene Expression Cytogenetics

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Wireless Disturbance Mapping and Path Selection for Placement of Network Control System Components

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Journal of Physics: Conference Series 2019年第1期1230卷 012025-012025页

作者： Joelianto, Endra Ghazali, Muhammad Zhaka Tutun Juhana Instrumentation and Control Research Group Faculty of Industrial Technology Institut Teknologi Bandung Jl. Ganesha 10 Bandung 40132 Indonesia. Engineering Physics Study Program Faculty of Industrial Technology Institut Teknologi Bandung Jl. Ganesha 10 Bandung 40132 Indonesia. Telecommunication Engineering School of Electrical and Informatics Institut Teknologi Bandung Jl. Ganesha 10 Bandung 40132 Indonesia.

Wireless transmitters in measurement instruments act for transmitting data or signals using radio frequency or currently better known as WIFI by means of 2.4 GHz. WIFI is a wireless local area network (WLAN) communication network. With the existence of telecommunications, measurement and control in industrial processes are heading to a high level of reliability compared to the conventional wired instruments in reaching hard locations or dangerous and hazardous areas. However, this cannot be done easily especially in maintaining the communication performances. Research is needed on the reliability of the wireless transmitter itself. Several factors such as communication disruptions are new challenges for the industry of wireless technology manufacturers to be able to prevent or to minimize errors that can arise in wireless network control systems. Signal strength mapping is needed in designing wireless network control systems. In this paper, the mapping is performed by measuring the signal strength parameters (Power Level) and the use of channels (Channel Usage) at planned locations. The measurement results are then used as sample points in the mapping. Data show that the signal strength measurement at each channel has a maximum of - 60 dBm and a minimum of -105 dBm. Mapping is performed by using two methods, namely Inverse Distance Weight (IDW) and Spline Interpolation (SI) methods. The paper proposes an algorithm to select the appropriate wireless communication paths from the planned locations. The mapping results indicate the appropriate area to place the transmitter and the receiver devices in a wireless data transmission network. With good placement, it is expected that measurements using wireless transmitters have minimum disruptions.

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The epidemic of Tuberculosis on vaccinated population

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Journal of Physics: Conference Series 2017年第1期890卷

作者： Syahrini, Intan Sriwahyuni Halfiani, Vera Yuni, Syarifah Meurah Iskandar, Taufiq Rasudin Ramli, Marwan Department of Mathematics Syiah Kuala University Banda Aceh 23111 Indonesia Dynamic Application and Optimization Groups Syiah Kuala University Banda Aceh 23111 Indonesia Management and Informatics Study Program Syiah Kuala University Banda Aceh 23111 Indonesia

Tuberculosis is an infectious disease which has caused a large number of mortality in Indonesia. This disease is caused by Mycrobacterium tuberculosis. Besides affecting lung, this disease also affects other organs such as lymph gland, intestine, kidneys, uterus, bone, and brain. This article discusses the epidemic of tuberculosis through employing the SEIR model. Here, the population is divided into four compartments which are susceptible, exposed, infected and recovered. The susceptible population is further grouped into two which are vaccinated group and unvaccinated group. The behavior of the epidemic is investigated through analysing the equilibrium of the model. The result shows that administering vaccine to the susceptible population contributes to the reduction of the tuberculosis epidemic rate.

关键词： Epidemiology

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Conceptual: Digital Book in the Era of Digital Learning Approaches (DLA)

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IOP Conference Series: Earth and Environmental Science 2019年第1期243卷

作者： A Mashfufah J Nurkamto Sajidan Wiranto I L Novenda Doctoral program of Education Science of Sebelas Maret University Jalan Ir Sutami No 36-A Kentingan Surakarta Indonesia Faculty of Education Science IKIP PGRI Jember Jl. Jawa No.10 Tegal Boto Lor Sumbersari Jember East Java 68121 Indonesia Faculty of Teacher Training and Education of Sebelas Maret University Jalan Ir Sutami No 36-A Kentingan Surakarta Indonesia Postgraduate program of Science Education of Sebelas Maret University Jalan Ir Sutami No 36-A Kentingan Surakarta Indonesia Informatics Study Program of Sebelas Maret University Jalan Ir Sutami No 36-A Kentingan Surakarta Indonesia Faculty of Teacher Training and Education of Jember University Kalimantan Street 37 Jember Indonesia

Nowadays, the advancement of ICT has been reached all over the world with tremendous influences, particularly in an educational world. In this digital age, for instance, there is an innovation of learning resources based on technology. They are electronic books (e-books) or digital books. The features of digital books such as multimodal components (text, audio, animation, and video) become more desirable than the printed books, although the current research often shows the constraint toward the effectiveness of the electronic books in reading comprehension. The digital books provide an interactive aspect of self-regulated learning in the context of distance learning. This article proposes a literature review of the existing studies around digital books in an educational environment. The result of review revealed that the effectiveness of the digital book for learning purposes depends on several factors that are the curriculum development appropriateness, students' prior knowledge of technology, and adults' role as facilitators in a learning activity.

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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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