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Author Correction: Contribution of Ryugu-like material to Earth’s volatile inventory by Cu and Zn isotopic analysis

Nature Astronomy 2023年 633页

作者： Marine Paquet Frederic Moynier Wei Dai Yan Hu Martin Bizzarro Marc Chaussidon Tetsuya Yokoyama Ikshu Gautam Makiko K. Haba Akira Ishikawa Yuki Masuda Yoshinari Abe Jérôme Aléon Conel M. O’D. Alexander Richard W. Carlson Larry Nittler Sachiko Amari Yuri Amelin Ken-ichi Bajo Noriyuki Kawasaki Sohei Wada Hisayoshi Yurimoto Audrey Bouvier Byeon-Gak Choi Nicolas Dauphas Andrew M. Davis Tommaso Di Rocco Andreas Pack Wataru Fujiya Ryota Fukai Tomohiro Usui Kanako Sakamoto Masanao Abe Akiko Miyazaki Aiko Nakato Masahiro Nishimura Tatsuaki Okada Toru Yada Kasumi Yogata Satoru Nakazawa Takanao Saiki Satoshi Tanaka Yuichi Tsuda Makoto Yoshikawa Yuki Hibiya Hiroshi Hidaka Sei-ichiro Watanabe Hisashi Homma Peter Hoppe Gary R. Huss Alexander N. Krot Kazuhide Nagashima Kiyohiro Ichida Shintaro Komatani Mayu Morita Morihiko Onose Tsuyoshi Iizuka Trevor R. Ireland Motoo Ito Takaaki Noguchi Shoichi Itoh Noriko T. Kita Kouki Kitajima Thorsten Kleine Ming-Chang Liu Kevin D. McKeegan Lauren Tafla Haolan Tang Edward D. Young Kazuko Motomura Izumi Nakai David Nesvorný Ann N. Nguyen Changkun Park Laurette Piani Liping Qin Sara S. Russell Naoya Sakamoto Maria Schönbächler Kentaro Terada Yasuko Terada Meenakshi Wadhwa Richard J. Walker Katsuyuki Yamashita Qing-Zhu Yin Shigekazu Yoneda Hiroharu Yui Ai-Cheng Zhang Tomoki Nakamura Hiroshi Naraoka Ryuji Okazaki Hikaru Yabuta Fuyuto Terui Shogo Tachibana Université Paris Cité Institut de Physique du Globe de Paris CNRS Paris France Centre for Star and Planet Formation GLOBE Institute University of Copenhagen Copenhagen Denmark Department of Earth and Planetary Sciences Tokyo Institute of Technology Tokyo Japan Graduate School of Engineering Materials Science and Engineering Tokyo Denki University Tokyo Japan Institut de Minéralogie de Physique des Matériaux et de Cosmochimie Sorbonne Université Muséum National d’Histoire Naturelle CNRS UMR 7590 IRD Paris France Earth and Planets Laboratory Carnegie Institution for Science Washington DC USA McDonnell Center for the Space Sciences and Physics Department Washington University St. Louis MO USA Guangzhou Institute of Geochemistry Chinese Academy of Sciences Guangzhou China Natural History Sciences IIL Hokkaido University Sapporo Japan Bayerisches Geoinstitut Universität Bayreuth Bayreuth Germany Department of Earth Science Education Seoul National University Seoul Republic of Korea Department of the Geophysical Sciences and Enrico Fermi Institute The University of Chicago Chicago IL USA Faculty of Geosciences and Geography University of Göttingen Göttingen Germany Faculty of Science Ibaraki University Mito Japan ISAS/JSEC JAXA Sagamihara Japan General Systems Studies The University of Tokyo Tokyo Japan Earth and Planetary Sciences Nagoya University Nagoya Japan Osaka Application Laboratory SBUWDX Rigaku Corporation Osaka Japan Max Planck Institute for Chemistry Mainz Germany Hawai’i Institute of Geophysics and Planetology University of Hawai’i at Mānoa Honolulu HI USA Analytical Technology Horiba Techno Service Co. Ltd Kyoto Japan Earth and Planetary Science The University of Tokyo Tokyo Japan School of Earth and Environmental Sciences The University of Queensland St Lucia Queensland Australia Kochi Institute for Core Sample Research JAMSTEC Kochi Japan Earth and Planetary Sciences Kyoto University Kyoto Japan Geoscience Universit

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Measurement of the high-energy gamma-ray emission from the Moon with the Fermi Large Area Telescope

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Physical Review D 2016年第8期93卷 082001-082001页

作者： M. Ackermann M. Ajello A. Albert W. B. Atwood L. Baldini G. Barbiellini D. Bastieri R. Bellazzini E. Bissaldi R. D. Blandford R. Bonino E. Bottacini J. Bregeon P. Bruel R. Buehler G. A. Caliandro R. A. Cameron M. Caragiulo P. A. Caraveo E. Cavazzuti C. Cecchi A. Chekhtman J. Chiang G. Chiaro S. Ciprini R. Claus J. Cohen-Tanugi F. Costanza A. Cuoco S. Cutini F. D’Ammando A. de Angelis F. de Palma R. Desiante S. W. Digel L. Di Venere P. S. Drell C. Favuzzi S. J. Fegan W. B. Focke A. Franckowiak S. Funk P. Fusco F. Gargano D. Gasparrini N. Giglietto F. Giordano M. Giroletti T. Glanzman G. Godfrey I. A. Grenier J. E. Grove S. Guiriec A. K. Harding J. W. Hewitt D. Horan X. Hou G. Iafrate G. Jóhannesson T. Kamae M. Kuss S. Larsson L. Latronico J. Li L. Li F. Longo F. Loparco M. N. Lovellette P. Lubrano J. Magill S. Maldera A. Manfreda M. Mayer M. N. Mazziotta P. F. Michelson W. Mitthumsiri T. Mizuno M. E. Monzani A. Morselli S. Murgia E. Nuss N. Omodei E. Orlando J. F. Ormes D. Paneque J. S. Perkins M. Pesce-Rollins V. Petrosian F. Piron G. Pivato S. Rainò R. Rando M. Razzano A. Reimer O. Reimer T. Reposeur C. Sgrò E. J. Siskind F. Spada G. Spandre P. Spinelli H. Takahashi J. B. Thayer D. J. Thompson L. Tibaldo D. F. Torres G. Tosti E. Troja G. Vianello B. L. Winer K. S. Wood M. Yassine F. Cerutti A. Ferrari P. R. Sala Deutsches Elektronen Synchrotron DESY D-15738 Zeuthen Germany Department of Physics and Astronomy Clemson University Kinard Lab of Physics Clemson South Carolina 29634-0978 USA W. W. Hansen Experimental Physics Laboratory Kavli Institute for Particle Astrophysics and Cosmology Department of Physics and SLAC National Accelerator Laboratory Stanford University Stanford California 94305 USA Santa Cruz Institute for Particle Physics Department of Physics and Department of Astronomy and Astrophysics University of California at Santa Cruz Santa Cruz California 95064 USA Università di Pisa and Istituto Nazionale di Fisica Nucleare Sezione di Pisa I-56127 Pisa Italy Istituto Nazionale di Fisica Nucleare Sezione di Trieste I-34127 Trieste Italy Dipartimento di Fisica Università di Trieste I-34127 Trieste Italy Istituto Nazionale di Fisica Nucleare Sezione di Padova I-35131 Padova Italy Dipartimento di Fisica e Astronomia “G. Galilei” Università di Padova I-35131 Padova Italy Istituto Nazionale di Fisica Nucleare Sezione di Pisa I-56127 Pisa Italy Istituto Nazionale di Fisica Nucleare Sezione di Bari I-70126 Bari Italy Istituto Nazionale di Fisica Nucleare Sezione di Torino I-10125 Torino Italy Dipartimento di Fisica Generale “Amadeo Avogadro” Università degli Studi di Torino I-10125 Torino Italy Laboratoire Univers et Particules de Montpellier Université Montpellier CNRS/IN2P3 F-34095 Montpellier France Laboratoire Leprince-Ringuet École polytechnique CNRS/IN2P3 F-91128 Palaiseau Cedex France Consorzio Interuniversitario per la Fisica Spaziale (CIFS) I-10133 Torino Italy Dipartimento di Fisica “M. Merlin” dell’Università e del Politecnico di Bari I-70126 Bari Italy INAF-Istituto di Astrofisica Spaziale e Fisica Cosmica I-20133 Milano Italy Agenzia Spaziale Italiana (ASI) Science Data Center I-00133 Roma Italy Istituto Nazionale di Fisica Nucleare Sezione di Perugia I-06123 Perugia Italy Dipartimento di Fisica Università degli Studi di Perugia I-06123 Perugia

We have measured the gamma-ray emission spectrum of the Moon using the data collected by the Large Area Telescope onboard the Fermi satellite during its first seven years of operation, in the energy range from 30 MeV up to a few GeV. We have also studied the time evolution of the flux, finding a correlation with the solar activity. We have developed a full Monte Carlo simulation describing the interactions of cosmic rays with the lunar surface. The results of the present analysis can be explained in the framework of this model, where the production of gamma rays is due to the interactions of cosmic-ray proton and helium nuclei with the surface of the Moon. Finally, we have used our simulation to derive the cosmic-ray proton and helium spectra near Earth from the Moon gamma-ray data.

关键词： Cosmic ray sources Cosmic rays & astroparticles Gamma ray astronomy Solar cycles

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OBSERVATIONS OF M31 AND M33 WITH THE FERMI LARGE AREA TELESCOPE: A GALACTIC CENTER EXCESS IN ANDROMEDA?

arXiv

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arXiv 2017年

作者： Ackermann, M. Ajello, M. Albert, A. Baldini, L. Ballet, J. Barbiellini, G. Bastieri, D. Bellazzini, R. Bissaldi, E. Bloom, E.D. Bonino, R. Bottacini, E. Brandt, T.J. Bregeon, J. Bruel, P. Buehler, R. Cameron, R.A. Caputo, R. Caragiulo, M. Caraveo, P.A. Cavazzuti, E. Cecchi, C. Charles, E. Chekhtman, A. Chiaro, G. Ciprini, S. Costanza, F. Cutini, S. D’Ammando, F. de Palma, F. Desiante, R. Digel, S.W. Di Lalla, N. Di Mauro, M. Di Venere, L. Favuzzi, C. Funk, S. Fusco, P. Gargano, F. Giglietto, N. Giordano, F. Giroletti, M. Glanzman, T. Green, D. Grenier, I.A. Guillemot, L. Guiriec, S. Hayashi, K. Hou, X. Jóhannesson, G. Kamae, T. Knödlseder, J. Kong, A.K.H. Kuss, M. la Mura, G. Larsson, S. Latronico, L. Li, J. Longo, F. Loparco, F. Lubrano, P. Maldera, S. Malyshev, D. Manfreda, A. Martin, P. Mazziotta, M.N. Michelson, P.F. Mirabal, N. Mitthumsiri, W. Mizuno, T. Monzani, M.E. Morselli, A. Moskalenko, I.V. Negro, M. Nuss, E. Ohsugi, T. Omodei, N. Orlando, E. Ormes, J.F. Paneque, D. Persic, M. Pesce-Rollins, M. Piron, F. Porter, T.A. Principe, G. Rainò, S. Rando, R. Razzano, M. Reimer, O. Sánchez-Conde, M. Sgrò, C. Simone, D. Siskind, E.J. Spada, F. Spandre, G. Spinelli, P. Tanaka, K. Tibaldo, L. Torres, D.F. Troja, E. Uchiyama, Y. Wang, J.C. Wood, K.S. Wood, M. Zaharijas, G. Zhou, M. Deutsches Elektronen Synchrotron DESY ZeuthenD-15738 Germany Department of Physics and Astronomy Clemson University Kinard Lab of Physics ClemsonSC29634-0978 United States Los Alamos National Laboratory Los AlamosNM87545 United States Università di Pisa Istituto Nazionale di Fisica Nucleare Sezione di Pisa PisaI-56127 Italy Laboratoire AIM CEA-IRFU CNRS Université Paris Diderot Service d’Astrophysique CEA Saclay Gif sur YvetteF-91191 France Istituto Nazionale di Fisica Nucleare Sezione di Trieste TriesteI-34127 Italy Dipartimento di Fisica Università di Trieste TriesteI-34127 Italy Istituto Nazionale di Fisica Nucleare Sezione di Padova PadovaI-35131 Italy Dipartimento di Fisica e Astronomia "G. Galilei" Università di Padova PadovaI-35131 Italy Istituto Nazionale di Fisica Nucleare Sezione di Pisa PisaI-56127 Italy Istituto Nazionale di Fisica Nucleare Sezione di Bari BariI-70126 Italy W. W. Hansen Experimental Physics Laboratory Kavli Institute for Particle Astrophysics and Cosmology Department of Physics SLAC National Accelerator Laboratory Stanford University StanfordCA94305 United States Istituto Nazionale di Fisica Nucleare Sezione di Torino TorinoI-10125 Italy Dipartimento di Fisica Università degli Studi di Torino TorinoI-10125 Italy NASA Goddard Space Flight Center GreenbeltMD20771 United States Laboratoire Univers et Particules de Montpellier Université Montpellier CNRS/IN2P3 MontpellierF-34095 France Laboratoire Leprince-Ringuet École polytechnique CNRS/IN2P3 PalaiseauF-91128 France Santa Cruz Institute for Particle Physics Department of Physics Department of Astronomy and Astrophysics University of California at Santa Cruz Santa CruzCA95064 United States Dipartimento di Fisica "M. Merlin" dell’Università e del Politecnico di Bari BariI-70126 Italy INAF-Istituto di Astrofisica Spaziale e Fisica Cosmica Milano via E. Bassini 15 MilanoI-20133 Italy Science Data Center RomaI-00133 Italy Istituto Nazionale di Fi

The Fermi Large Area Telescope (LAT) has opened the way for comparative studies of cosmic rays (CRs) and high-energy objects in the Milky Way (MW) and in other, external, star-forming galaxies. Using 2 yr of observations with the Fermi LAT, Local Group galaxy M31 was detected as a marginally extended gamma-ray source, while only an upper limit has been derived for the other nearby galaxy M33. We revisited the gamma-ray emission in the direction of M31 and M33 using more than 7 yr of LAT Pass 8 data in the energy range 0.1−100 GeV, presenting detailed morphological and spectral analyses. M33 remains undetected, and we computed an upper limit of 2.0×10−12 erg cm−2 s−1 on the 0.1−100 GeV energy flux (95% confidence level). This revised upper limit remains consistent with the observed correlation between gamma-ray luminosity and star-formation rate tracers and implies an average CR density in M33 that is at most half of that of the MW. M31 is detected with a significance of nearly 10σ. Its spectrum is consistent with a power law with photon index Γ = 2.4±0.1stat+syst and a 0.1−100 GeV energy flux of (5.6±0.6stat+syst)×10−12 erg cm−2 s−1. M31 is detected to be extended with a 4σ significance. The spatial distribution of the emission is consistent with a uniform-brightness disk with a radius of 0◦.4 and no offset from the center of the galaxy, but nonuniform intensity distributions cannot be excluded. The flux from M31 appears confined to the inner regions of the galaxy and does not fill the disk of the galaxy or extend far from it. The gamma-ray signal is not correlated with regions rich in gas or star-formation activity, which suggests that the emission is not interstellar in origin, unless the energetic particles radiating in gamma rays do not originate in recent star formation. Alternative and nonexclusive interpretations are that the emission results from a population of millisecond pulsars dispersed in the bulge and disk of M31 by disrupted globular clusters or from

关键词： Galaxies

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A global multiproxy database for temperature reconstructions of the Common Era

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Scientific Data 2017年第1期4卷 1-33页

作者： Emile-Geay, Julien McKay, Nicholas P. Kaufman, Darrell S. Von Gunten, Lucien Wang, Jianghao Anchukaitis, Kevin J. Abram, Nerilie J. Addison, Jason A. Curran, Mark A.J. Evans, Michael N. Henley, Benjamin J. Hao, Zhixin Martrat, Belen McGregor, Helen V. Neukom, Raphael Pederson, Gregory T. Stenni, Barbara Thirumalai, Kaustubh Werner, Johannes P. Xu, Chenxi Divine, Dmitry V. Dixon, Bronwyn C. Gergis, Joelle Mundo, Ignacio A. Nakatsuka, Takeshi Phipps, Steven J. Routson, Cody C. Steig, Eric J. Tierney, Jessica E. Tyler, Jonathan J. Allen, Kathryn J. Bertler, Nancy A.N. Björklund, Jesper Chase, Brian M. Chen, Min-Te Cook, Ed De Jong, Rixt DeLong, Kristine L. Dixon, Daniel A. Ekaykin, Alexey A. Ersek, Vasile Filipsson, Helena L. Francus, Pierre Freund, Mandy B. Frezzotti, Massimo Gaire, Narayan P. Gajewski, Konrad Ge, Quansheng Goosse, Hugues Gornostaeva, Anastasia Grosjean, Martin Horiuchi, Kazuho Hormes, Anne Husum, Katrine Isaksson, Elisabeth Kandasamy, Selvaraj Kawamura, Kenji Kilbourne, K. Halimeda Koç, Nalan Leduc, Guillaume Linderholm, Hans W. Lorrey, Andrew M. Mikhalenko, Vladimir Mortyn, P. Graham Motoyama, Hideaki Moy, Andrew D. Mulvaney, Robert Munz, Philipp M. Nash, David J. Oerter, Hans Opel, Thomas Orsi, Anais J. Ovchinnikov, Dmitriy V. Porter, Trevor J. Roop, Heidi A. Saenger, Casey Sano, Masaki Sauchyn, David Saunders, Krystyna M. Seidenkrantz, Marit-Solveig Severi, Mirko Shao, Xuemei Sicre, Marie-Alexandrine Sigl, Michael Sinclair, Kate St George, Scott St Jacques, Jeannine-Marie Thamban, Meloth Thapa, Udya Kuwar Thomas, Elizabeth R. Turney, Chris Uemura, Ryu Viau, Andre E. Vladimirova, Diana O. Wahl, Eugene R. White, James W.C. Yu, Zicheng Zinke, Jens Department of Earth Sciences Center for Applied Mathematical Sciences University of Southern California Los Angeles 90089 CA United States School of Earth Sciences and Environmental Sustainability Northern Arizona University Flagstaff 86001 AZ United States PAGES International Project Office Bern 3012 Switzerland Mathworks Inc. Natick 01760 MA United States School of Geography and Development Laboratory of Tree Ring Research University of Arizona Tucson 85721 AZ United States Research School of Earth Sciences ARC Centre of Excellence for Climate System Science Australian National University Canberra 2601 ACT Australia U.S. Geological Survey Menlo Park 94025 CA United States Australian Antarctic Division Kingston 7050 TAS Australia Antarctic Climate and Ecosystems CRC University of Tasmania Hobart 7050 TAS Australia Department of Geology and Earth System Science Interdisciplinary Center University of Maryland College Park 20742 MD United States School of Earth Sciences University of Melbourne Melbourne 3010 VIC Australia Institute of Geographic Sciences and Natural Resources Research Chinese Academy of Sciences Beijing 100101 China Department of Environmental Chemistry Institute of Environmental Assessment and Water Research Spanish Council for Scientific Research Barcelona 08034 Spain Department of Earth Sciences University of Cambridge Cambridge CB2 3EQ United Kingdom School of Earth and Environmental Sciences University of Wollongong Wollongong 2522 NSW Australia Oeschger Centre for Climate Change Research Institute of Geography University of Bern Bern 3012 Switzerland U.S. Geological Survey Northern Rocky Mountain Science Center Bozeman 59715 MT United States Department of Environmental Sciences Informatics and Statistics Ca' Foscari University of Venice Venice 30170 Italy Institute for Geophysics Jackson School of Geosciences University of Texas at Austin Austin 78758 TX United States Department for Earth Science Bje

Reproducible climate reconstructions of the Common Era (1 CE to present) are key to placing industrial-era warming into the context of natural climatic variability. Here we present a community-sourced database of temperature-sensitive proxy records from the PAGES2k initiative. The database gathers 692 records from 648 locations, including all continental regions and major ocean basins. The records are from trees, ice, sediment, corals, speleothems, documentary evidence, and other archives. They range in length from 50 to 2000 years, with a median of 547 years, while temporal resolution ranges from biweekly to centennial. Nearly half of the proxy time series are significantly correlated with HadCRUT4.2 surface temperature over the period 1850-2014. Global temperature composites show a remarkable degree of coherence between high- and low-resolution archives, with broadly similar patterns across archive types, terrestrial versus marine locations, and screening criteria. The database is suited to investigations of global and regional temperature variability over the Common Era, and is shared in the Linked Paleo Data (LiPD) format, including serializations in Matlab, R and Python.

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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 Institute of Cancer and Genomic Sciences College of Medical and Dental Sciences University of Birmingham Birmingham UK 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 Department of Pathology National University Hospital National University Health System Singapore Singapore Division of Epidemiology Department of Medicine Vanderbilt-Ingram Cancer Center Vanderbilt Epidemiology Center Vanderbilt University Medical Center Nashville TN USA Department of Biomedical Informatics Vanderbilt University School of Medicine 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 Department of Biostatistics School of Public Health University of Washington Seattle WA USA School of Public Health University of Washington Seattle WA USA Research Centre for Hauora and Health Massey University Wellington New Zealand Department of Epidemiology University of Washington School of Public Health Seattle WA USA Division of Research Kaiser Permanente Northern California Oakland CA USA Department of Biostatistics University of Washington Seattle WA USA Department of Epidemiology University of Washington 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 S

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.

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Human genome meeting 2016 : Houston, TX, USA. 28 February - 2 March 2016

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Human genomics 2016年第1期10 Suppl 1卷 12页

作者： A. K. Srivastava Y. Wang R. Huang C. Skinner T. Thompson L. Pollard T. Wood F. Luo R. Stevenson R. Polimanti J. Gelernter X. Lin I. Y. Lim Y. Wu A. L. Teh L. Chen I. M. Aris S. E. Soh M. T. Tint J. L. MacIsaac F. Yap K. Kwek S. M. Saw M. S. Kobor M. J. Meaney K. M. Godfrey Y. S. Chong J. D. Holbrook Y. S. Lee P. D. Gluckman N. Karnani A. Kapoor D. Lee A. Chakravarti C. Maercker F. Graf M. Boutros G. Stamoulis F. Santoni P. Makrythanasis A. Letourneau M. Guipponi N. Panousis M. Garieri P. Ribaux E. Falconnet C. Borel S. E. Antonarakis S. Kumar J. Curran J. Blangero S. Chatterjee J. Akiyama D. Auer C. Berrios L. Pennacchio T. R. Donti G. Cappuccio M. Miller P. Atwal A. Kennedy A. Cardon C. Bacino L. Emrick J. Hertecant F. Baumer B. Porter M. Bainbridge P. Bonnen B. Graham R. Sutton Q. Sun S. Elsea Z. Hu P. Wang Y. Zhu J. Zhao M. Xiong David A. Bennett A. Hidalgo-Miranda S. Romero-Cordoba S. Rodriguez-Cuevas R. Rebollar-Vega E. Tagliabue M. Iorio E. D’Ippolito S. Baroni B. Kaczkowski Y. Tanaka H. Kawaji A. Sandelin R. Andersson M. Itoh T. Lassmann Y. Hayashizaki P. Carninci A. R. R. Forrest C. A. Semple E. A. Rosenthal B. Shirts L. Amendola C. Gallego M. Horike-Pyne A. Burt P. Robertson P. Beyers C. Nefcy D. Veenstra F. Hisama R. Bennett M. Dorschner D. Nickerson J. Smith K. Patterson D. Crosslin R. Nassir N. Zubair T. Harrison U. Peters G. Jarvik F. Menghi K. Inaki X. Woo P. Kumar K. Grzeda A. Malhotra H. Kim D. Ucar P. Shreckengast K. Karuturi J. Keck J. Chuang E. T. Liu B. Ji A. Tyler G. Ananda G. Carter H. Nikbakht M. Montagne M. Zeinieh A. Harutyunyan M. Mcconechy N. Jabado P. Lavigne J. Majewski J. B. Goldstein M. Overman G. Varadhachary R. Shroff R. Wolff M. Javle A. Futreal D. Fogelman L. Bravo W. Fajardo H. Gomez C. Castaneda C. Rolfo J. A. Pinto K. C. Akdemir L. Chin S. Patterson C. Statz S. Mockus S. N. Nikolaev X. I. Bonilla L. Parmentier B. King F. Bezrukov G. Kaya V. Zoete V. Seplyarskiy H. Sharpe T. McKee K. Popadin N. Basset-Seguin R. Ben Chaabene M. Andrianova C. Verdan K. Grosdemange O. Sumara M. E JCSRI Greenwood Genetic Center Greenwood USA School of Computing Clemson University Clemson USA Biochemical Genetics Laboratory Greenwood Genetic Center Greenwood USA Department Psychiatry Yale Sch Med and VA CT Healthcare Center West Haven USA Department Genetics Yale Sch Med and VA CT Healthcare Center West Haven USA Department Neurobiology Yale Sch Med and VA CT Healthcare Center West Haven USA Singapore Institute for Clinical Sciences Singapore Singapore National University of Singapore Singapore Singapore University of British Columbia Vancouver Canada KK Women’s and Children’s Hospital Singapore Singapore University of Southampton and University Hospital Southampton NHS Foundation Trust Southampton UK University of Auckland Auckland New Zealand McKusick-Nathans Institute of Genetic Medicine Johns Hopkins University School of Medicine Baltimore USA Esslingen University of Applied Sciences Esslingen Germany German Cancer Research Center Heidelberg Germany Department of Genetic Medicine and Development University of Geneva Medical School Geneva Switzerland Geneva University Hospitals-HUG Service of Genetic Medicine Geneva Switzerland GE3 Institute of Genetics and Genomics of Geneva University of Geneva Medical School Geneva Switzerland South Texas Diabetes and Obesity Institute School of Medicine University of Texas Rio-Grande Valley Edinburg USA South Texas Diabetes and Obesity Institute School of Medicine University of Texas Rio-Grande Valley Brownsville USA Institute of Genetic Medicine Johns Hopkins University Baltimore USA Genomics Division Lawrence Berkeley National Laboratory Berkeley USA Molecular and Human Genetics Baylor College of Medicine Houston USA Department of Translational Medical Sciences Federico II University Naples Italy Metabolon Inc Durham USA Section of Pediatric Neurology and Neuroscience Baylor College of Medicine Houston USA Tawam Hospital Abu Dhabi United Arab Emirates Stanford Medical School Stanford USA Sch

O1 The metabolomics approach to autism: identification of biomarkers for early detection of autism spectrum disorder A. K. Srivastava, Y. Wang, R. Huang, C. Skinner, T. Thompson, L. Pollard, T. Wood, F. Luo, R. Stevenson O2 Phenome-wide association study for smoking- and drinking-associated genes in 26,394 American women with African, Asian, European, and Hispanic descents R. Polimanti, J. Gelernter O3 Effects of prenatal environment, genotype and DNA methylation on birth weight and subsequent postnatal outcomes: findings from GUSTO, an Asian birth cohort X. Lin, I. Y. Lim, Y. Wu, A. L. Teh, L. Chen, I. M. Aris, S. E. Soh, M. T. Tint, J. L. MacIsaac, F. Yap, K. Kwek, S. M. Saw, M. S. Kobor, M. J. Meaney, K. M. Godfrey, Y. S. Chong, J. D. Holbrook, Y. S. Lee, P. D. Gluckman, N. Karnani, GUSTO study group O4 High-throughput identification of specific qt interval modulating enhancers at the SCN5A locus A. Kapoor, D. Lee, A. Chakravarti O5 Identification of extracellular matrix components inducing cancer cell migration in the supernatant of cultivated mesenchymal stem cells C. Maercker, F. Graf, M. Boutros O6 Single cell allele specific expression (ASE) IN T21 and common trisomies: a novel approach to understand DOWN syndrome and other aneuploidies G. Stamoulis, F. Santoni, P. Makrythanasis, A. Letourneau, M. Guipponi, N. Panousis, M. Garieri, P. Ribaux, E. Falconnet, C. Borel, S. E. Antonarakis O7 Role of microRNA in LCL to IPSC reprogramming S. Kumar, J. Curran, J. Blangero O8 Multiple enhancer variants disrupt gene regulatory network in Hirschsprung disease S. Chatterjee, A. Kapoor, J. Akiyama, D. Auer, C. Berrios, L. Pennacchio, A. Chakravarti O9 Metabolomic profiling for the diagnosis of neurometabolic disorders T. R. Donti, G. Cappuccio, M. Miller, P. Atwal, A. Kennedy, A. Cardon, C. Bacino, L. Emrick, J. Hertecant, F. Baumer, B. Porter, M. Bainbridge, P. Bonnen, B. Graham, R. Sutton, Q. Sun, S. Elsea O10 A novel causal methylation network approach to Alzheimer’s

关键词： Pulmonary Arterial Hypertension Oral Squamous Cell Carcinoma Deep Neural Network Autosomal Recessive Polycystic Kidney Disease Whole Genome Bisulfite Sequencing

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Global burden of 369 diseases and injuries in 204 countries and territories, 1990–2019: a systematic analysis for the Global Burden of Disease Study 2019

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The Lancet 2020年第10258期396卷 1204-1222页

作者： Abbafati, Cristiana Abbas, Kaja M. Abbasi, Mohammad Abbasifard, Mitra Abbasi-Kangevari, Mohsen Abbastabar, Hedayat Abd-Allah, Foad Abdelalim, Ahmed Abdollahi, Mohammad Abdollahpour, Ibrahim Abedi, Aidin Abedi, Parisa Abegaz, Kedir Hussein Abolhassani, Hassan Abosetugn, Akine Eshete Aboyans, Victor Abrams, Elissa M. Abreu, Lucas Guimarães Abrigo, Michael R.M. Abu Haimed, Abdulaziz Khalid Abualhasan, Ahmed Abu-Gharbieh, Eman Abu-Raddad, Laith Jamal Abushouk, Abdelrahman I. Acebedo, Alyssa Ackerman, Ilana N. Adabi, Maryam Adair, Tim Adamu, Abdu A. Adebayo, Oladimeji M. Adedeji, Isaac Akinkunmi Adekanmbi, Victor Adelson, Jaimie D. Adeoye, Abiodun Moshood Adetokunboh, Olatunji O. Adham, Davoud Advani, Shailesh M. Afarideh, Mohsen Afshari, Mahdi Afshin, Ashkan Agardh, Emilie E. Agarwal, Gina Agasthi, Pradyumna Agesa, Kareha M. Aghaali, Mohammad Aghamir, Seyed Mohammad Kazem Agrawal, Anurag Ahmad, Tauseef Ahmadi, Alireza Ahmadi, Keivan Ahmadi, Mehdi Ahmadieh, Hamid Ahmadpour, Ehsan Ahmed, Muktar Beshir Aji, Budi Akalu, Temesgen Yihunie Akinyemi, Rufus Olusola Akinyemiju, Tomi Akombi, Blessing Akunna, Chisom Joyqueenet Alahdab, Fares Al-Aly, Ziyad Alam, Khurshid Alam, Noore Alam, Samiah Alam, Tahiya Alanezi, Fahad Mashhour Alanzi, Turki M. Albertson, Samuel B. Alcalde-Rabanal, Jacqueline Elizabeth Alema, Niguse Meles Alemu, Biresaw Wassihun Alemu, Yihun Mulugeta Alhabib, Khalid F. Alhassan, Robert Kaba Ali, Muhammad Ali, Saqib Alicandro, Gianfranco Alijanzadeh, Mehran Alinia, Cyrus Alipour, Vahid Alizade, Hesam Aljunid, Syed Mohamed Alla, François Allebeck, Peter Almadi, Majid Abdulrahman Hamad Almasi, Ali Almasi-Hashiani, Amir Almasri, Nihad A. Al-Mekhlafi, Hesham M. Almulhim, Abdulaziz M. Alonso, Jordi Al-Raddadi, Rajaa M. Altirkawi, Khalid A. Alumran, Arwa Khalid Alvis-Guzman, Nelson Alvis-Zakzuk, Nelson J. Amare, Azmeraw T. Amare, Bekalu Amini, Saeed Amini-Rarani, Mostafa Aminorroaya, Arya Amiri, Fatemeh Amit, Arianna Maever L. Amugsi, Dickson A. Amul, Gianna Gayle Herrera Anbesu, Etsay Woldu Ancuceanu, Robert Anderl Department of Juridical and Economic Studies La Sapienza University Rome Italy Department of Infectious Disease Epidemiology London School of Hygiene and Tropical Medicine London United Kingdom Social Determinants of Health Research Center Tehran Iran Department of Neurology Cairo University Cairo Egypt School of Pharmacy Tehran Iran The Institute of Pharmaceutical Sciences (TIPS) Tehran Iran Neuroscience Research Center Isfahan University of Medical Sciences Isfahan Iran Biostatistics Department Near East University Nicosia Cyprus Biostatistics and Health Informatics Madda Walabu University Bale Robe Ethiopia Research Center for Immunodeficiencies Tehran Iran Karolinska University Hospital Huddinge Sweden Department of Cardiology Dupuytren University Hospital Limoges France University of Limoges Limoges France Department of Pediatric Dentistry Federal University of Minas Gerais Belo Horizonte Brazil Department of Research Philippine Institute for Development Studies Quezon City Philippines Department of Healthcare Policy and Research Weill Cornell Medical College in Qatar Doha Qatar Harvard Medical School Boston MA United States Department of Medicine Ain Shams University Cairo Egypt Hamadan University of Medical Sciences Hamadan Iran School of Medicine Cardiff University Cardiff United Kingdom School of Laboratory Medicine and Science University College Hospital Ibadan Ibadan Nigeria Institute of Cardiovascular Diseases University of Ibadan Ibadan Nigeria Centre of Excellence for Epidemiological Modelling and Analysis Stellenbosch University Cape Town South Africa Department of Global Health Stellenbosch University Cape Town South Africa School of Health Ardabil University of Medical Science Ardabil Iran Social Behavioral Research Branch National Institute of Health Bethesda MD United States Department of Oncology Georgetown University Washington DC DC United States Department of Health Metrics Sciences School of Medicine Seattle WA

Background: In an era of shifting global agendas and expanded emphasis on non-communicable diseases and injuries along with communicable diseases, sound evidence on trends by cause at the national level is essential. The Global Burden of Diseases, Injuries, and Risk Factors Study (GBD) provides a systematic scientific assessment of published, publicly available, and contributed data on incidence, prevalence, and mortality for a mutually exclusive and collectively exhaustive list of diseases and injuries. Methods: GBD estimates incidence, prevalence, mortality, years of life lost (YLLs), years lived with disability (YLDs), and disability-adjusted life-years (DALYs) due to 369 diseases and injuries, for two sexes, and for 204 countries and territories. Input data were extracted from censuses, household surveys, civil registration and vital statistics, disease registries, health service use, air pollution monitors, satellite imaging, disease notifications, and other sources. Cause-specific death rates and cause fractions were calculated using the Cause of Death Ensemble model and spatiotemporal Gaussian process regression. Cause-specific deaths were adjusted to match the total all-cause deaths calculated as part of the GBD population, fertility, and mortality estimates. Deaths were multiplied by standard life expectancy at each age to calculate YLLs. A Bayesian meta-regression modelling tool, DisMod-MR 2.1, was used to ensure consistency between incidence, prevalence, remission, excess mortality, and cause-specific mortality for most causes. Prevalence estimates were multiplied by disability weights for mutually exclusive sequelae of diseases and injuries to calculate YLDs. We considered results in the context of the Socio-demographic Index (SDI), a composite indicator of income per capita, years of schooling, and fertility rate in females younger than 25 years. Uncertainty intervals (UIs) were generated for every metric using the 25th and 975th ordered 1000 draw value

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Genetic drivers of heterogeneity in type 2 diabetes pathophysiology

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Nature 2024年第8003期627卷 347-357页

作者： Ken Suzuki Konstantinos Hatzikotoulas Lorraine Southam Henry J Taylor Xianyong Yin Kim M Lorenz Ravi Mandla Alicia Huerta-Chagoya Giorgio E M Melloni Stavroula Kanoni Nigel W Rayner Ozvan Bocher Ana Luiza Arruda Kyuto Sonehara Shinichi Namba Simon S K Lee Michael H Preuss Lauren E Petty Philip Schroeder Brett Vanderwerff Mart Kals Fiona Bragg Kuang Lin Xiuqing Guo Weihua Zhang Jie Yao Young Jin Kim Mariaelisa Graff Fumihiko Takeuchi Jana Nano Amel Lamri Masahiro Nakatochi Sanghoon Moon Robert A Scott James P Cook Jung-Jin Lee Ian Pan Daniel Taliun Esteban J Parra Jin-Fang Chai Lawrence F Bielak Yasuharu Tabara Yang Hai Gudmar Thorleifsson Niels Grarup Tamar Sofer Matthias Wuttke Chloé Sarnowski Christian Gieger Darryl Nousome Stella Trompet Soo-Heon Kwak Jirong Long Meng Sun Lin Tong Wei-Min Chen Suraj S Nongmaithem Raymond Noordam Victor J Y Lim Claudia H T Tam Yoonjung Yoonie Joo Chien-Hsiun Chen Laura M Raffield Bram Peter Prins Aude Nicolas Lisa R Yanek Guanjie Chen Jennifer A Brody Edmond Kabagambe Ping An Anny H Xiang Hyeok Sun Choi Brian E Cade Jingyi Tan K Alaine Broadaway Alice Williamson Zoha Kamali Jinrui Cui Manonanthini Thangam Linda S Adair Adebowale Adeyemo Carlos A Aguilar-Salinas Tarunveer S Ahluwalia Sonia S Anand Alain Bertoni Jette Bork-Jensen Ivan Brandslund Thomas A Buchanan Charles F Burant Adam S Butterworth Mickaël Canouil Juliana C N Chan Li-Ching Chang Miao-Li Chee Ji Chen Shyh-Huei Chen Yuan-Tsong Chen Zhengming Chen Lee-Ming Chuang Mary Cushman John Danesh Swapan K Das H Janaka de Silva George Dedoussis Latchezar Dimitrov Ayo P Doumatey Shufa Du Qing Duan Kai-Uwe Eckardt Leslie S Emery Daniel S Evans Michele K Evans Krista Fischer James S Floyd Ian Ford Oscar H Franco Timothy M Frayling Barry I Freedman Pauline Genter Hertzel C Gerstein Vilmantas Giedraitis Clicerio González-Villalpando Maria Elena González-Villalpando Penny Gordon-Larsen Myron Gross Lindsay A Guare Sophie Hackinger Liisa Hakaste Sohee Han Andrew T Hattersley Christian Herder Momoko Horikoshi Annie-Green Howard Willa Centre for Genetics and Genomics Versus Arthritis Centre for Musculoskeletal Research Division of Musculoskeletal and Dermatological Sciences University of Manchester Manchester UK. Department of Diabetes and Metabolic Diseases Graduate School of Medicine University of Tokyo Tokyo Japan. Department of Statistical Genetics Osaka University Graduate School of Medicine Suita Japan. Institute of Translational Genomics Helmholtz Zentrum München German Research Center for Environmental Health Neuherberg Germany. konstantinos.hatzikotoulas@helmholtz-munich.de. Institute of Translational Genomics Helmholtz Zentrum München German Research Center for Environmental Health Neuherberg Germany. Center for Precision Health Research National Human Genome Research Institute National Institutes of Health Bethesda MD USA. British Heart Foundation Cardiovascular Epidemiology Unit Department of Public Health and Primary Care University of Cambridge Cambridge UK. Heart and Lung Research Institute University of Cambridge Cambridge UK. Department of Epidemiology School of Public Health Nanjing Medical University Nanjing China. Department of Biostatistics and Center for Statistical Genetics University of Michigan Ann Arbor MI USA. Corporal Michael J. Crescenz VA Medical Center Philadelphia PA USA. Department of Systems Pharmacology and Translational Therapeutics University of Pennsylvania Perelman School of Medicine Philadelphia PA USA. Department of Genetics University of Pennsylvania Perelman School of Medicine Philadelphia PA USA. Programs in Metabolism and Medical and Population Genetics Broad Institute of Harvard and MIT Cambridge MA USA. Diabetes Unit and Center for Genomic Medicine Massachusetts General Hospital Boston MA USA. TIMI Study Group Division of Cardiovascular Medicine Brigham and Women's Hospital Harvard Medical School Boston MA USA. William Harvey Research Institute Barts and the London School of Medicine and Dentistry Queen Mary University of London L

Type 2 diabetes (T2D) is a heterogeneous disease that develops through diverse pathophysiological processes and molecular mechanisms that are often specific to cell type. Here, to characterize the genetic contribution to these processes across ancestry groups, we aggregate genome-wide association study data from 2,535,601 individuals (39.7% not of European ancestry), including 428,452 cases of T2D. We identify 1,289 independent association signals at genome-wide significance (P < 5 × 10) that map to 611 loci, of which 145 loci are, to our knowledge, previously unreported. We define eight non-overlapping clusters of T2D signals that are characterized by distinct profiles of cardiometabolic trait associations. These clusters are differentially enriched for cell-type-specific regions of open chromatin, including pancreatic islets, adipocytes, endothelial cells and enteroendocrine cells. We build cluster-specific partitioned polygenic scores in a further 279,552 individuals of diverse ancestry, including 30,288 cases of T2D, and test their association with T2D-related vascular outcomes. Cluster-specific partitioned polygenic scores are associated with coronary artery disease, peripheral artery disease and end-stage diabetic nephropathy across ancestry groups, highlighting the importance of obesity-related processes in the development of vascular outcomes. Our findings show the value of integrating multi-ancestry genome-wide association study data with single-cell epigenomics to disentangle the aetiological heterogeneity that drives the development and progression of T2D. This might offer a route to optimize global access to genetically informed diabetes care.

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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 M

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.

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XXIV World Allergy Congress 2015 Seoul, Korea. 14-17 October 2015 Abstracts

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WORLD ALLERGY ORGANIZATION JOURNAL 2016年第1期9卷 1-206页

作者： [Anonymous] Korea University College of Medicine Guro Hospital Seoul South Korea College of Medicine Korea University Seoul South Korea Korea University Guro Hospital Seoul South Korea Seoul National University Boramae Hospital Seoul South Korea Division of Clinical Immunology Faculty of Medicine University of Debrecen Debrecen Hungary Meiji Pharmaceutical University Tokyo Japan Suri Medical Foundation Hospital Uttar Pradesh State India Shahid Beheshti University Tehran Iran Airlangga University Teaching Hospital Surabaya Indonesia Tokyo Metropolitan Police Hospital Tokyo Japan Shinichiro KogaSamsung Changwon Hospital Seoul South Korea Sapporo Tokushukai Hospital Sapporo Japan Department of Dermatology Yonsei University College of Medicine Seoul South Korea Brain Korea 21 PLUS Project for Medical Science Yonsei University College of Medicine Seoul South Korea Sureyyapasa Chest Diseases and Chest Surgery Training Hospital Istanbul Turkey Kangnam Sacred Heart Hospital Seoul South Korea Sakai City Medical Center Sakai Japan Osaka University Suita Japan Yonsei University College of Medicine Seoul South Korea Osaka-Minami Medical Center Kawachinagano Japan Inha University College of Medicine Incheon South Korea Inha University Hospital Incheon South Korea Center for Rhinology and Allergology Wiesbaden Wiesbaden Germany Leti Pharma Gmbh Witten Germany Postgraduate Institute of Medical Education and Research Chandigarh India West Bengal Technical University Kolkata India Institute of Microbiology Academy of Sciences of the Czech Republic Prague Czech Republic Seoul National University Hospital Seoul South Korea Ent and Allergy Centre(INDIA) Panchkula India University of Santo Tomas Hospital Manila Philippines University of Santo Tomas Faculty of Medicine Manila Philippines Kyung Hee University Hospital at Gang-Dong Seoul South Korea Sangji University Wonju South Korea Division of Allergy and Immunology Department of Internal Medicine Yonsei University Colle

A1 Pirfenidone inhibits TGF-b1-induced extracellular matrix production in nasal polyp-derived fibroblasts Jae-Min Shin, Heung-Man Lee, Il-Ho Park A2 The efficacy of a 2-week course of oral steroid in the treatment of chronic spontaneous urticaria refractory to antihistamines Hyun-Sun Yoon, Gyeong Yul Park A3 The altered distribution of follicular t helper cells may predict a more pronounced clinical course of primary sjögren’s syndrome Margit Zeher A4 Betamethasone suppresses Th2 cell development induced by langerhans cell like dendritic cells Katsuhiko Matsui, Saki Tamai, Reiko Ikeda A5 An evaluation of variousallergens in cases of allergic bronchial asthma at lucknow and neighbouring districts by intradermal skintest Drsushil Suri, Dranu Suri A6 Evaluation ferqency of ADHD in childhood asthma Marzieh Heidarzadeh Arani A7 Steven johnson syndrome caused by typhoid fever in a child Azwin Lubis, Anang Endaryanto A8 Chronic Bronchitis with Radio Contrast Media Hypersensitivity: A Case with Hypothesized GINA Step 1 Asthma Shinichiro Koga A9 The association between asthma and depression in Korean adult : An analysis of the fifth korea national health and nutrition examination survey (2010-2012) Lee Ju Suk A10 Management of allergic disease exacerbations in pregnancy Yasunobu Tsuzuki A11 Subcutaneous immunotherapy mouse model for atopic dermatitis Seo Hyeong Kim, Jung U Shin, Ji Yeon Noh, Shan Jin, Shan Jin, Hemin Lee, Jungsoo Lee, Chang Ook Park, Kwang Hoon Lee, Kwang Hoon Lee A12 Atopic disease and/or atopy are risk factors for local anesthetic allergy in patients with history of hypersensitivity reactions to drugs? Fatma Merve Tepetam A13 Food hypersensitivity in patients with atopic dermatitis in Korea Chun Wook Park, Jee Hee Son, Soo Ick Cho, Yong Se Cho, Yun Sun Byun, Yoon Seok Yang, Bo Young Chung, Hye One Kim, Hee Jin Cho A14 Anaphylaxis caused by an ant (Brachyponera chinensis) in Japan Yoshinori Katada, Toshio Tanaka, Akihiko Nakabayashi, Koji Nishida, Kenichi A

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