Sequence data and association statistics from 12,940 type 2 diabetes cases and controls View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2017-12-19

AUTHORS

Jason Flannick, Christian Fuchsberger, Anubha Mahajan, Tanya M Teslovich, Vineeta Agarwala, Kyle J Gaulton, Lizz Caulkins, Ryan Koesterer, Clement Ma, Loukas Moutsianas, Davis J McCarthy, Manuel A Rivas, John R B Perry, Xueling Sim, Thomas W Blackwell, Neil R Robertson, N William Rayner, Pablo Cingolani, Adam E Locke, Juan Fernandez Tajes, Heather M Highland, Josee Dupuis, Peter S Chines, Cecilia M Lindgren, Christopher Hartl, Anne U Jackson, Han Chen, Jeroen R Huyghe, Martijn van de Bunt, Richard D Pearson, Ashish Kumar, Martina Müller-Nurasyid, Niels Grarup, Heather M Stringham, Eric R Gamazon, Jaehoon Lee, Yuhui Chen, Robert A Scott, Jennifer E Below, Peng Chen, Jinyan Huang, Min Jin Go, Michael L Stitzel, Dorota Pasko, Stephen C J Parker, Tibor V Varga, Todd Green, Nicola L Beer, Aaron G Day-Williams, Teresa Ferreira, Tasha Fingerlin, Momoko Horikoshi, Cheng Hu, Iksoo Huh, Mohammad Kamran Ikram, Bong-Jo Kim, Yongkang Kim, Young Jin Kim, Min-Seok Kwon, Juyoung Lee, Selyeong Lee, Keng-Han Lin, Taylor J Maxwell, Yoshihiko Nagai, Xu Wang, Ryan P Welch, Joon Yoon, Weihua Zhang, Nir Barzilai, Benjamin F Voight, Bok-Ghee Han, Christopher P Jenkinson, Teemu Kuulasmaa, Johanna Kuusisto, Alisa Manning, Maggie C Y Ng, Nicholette D Palmer, Beverley Balkau, Alena Stančáková, Hanna E Abboud, Heiner Boeing, Vilmantas Giedraitis, Dorairaj Prabhakaran, Omri Gottesman, James Scott, Jason Carey, Phoenix Kwan, George Grant, Joshua D Smith, Benjamin M Neale, Shaun Purcell, Adam S Butterworth, Joanna M M Howson, Heung Man Lee, Yingchang Lu, Soo-Heon Kwak, Wei Zhao, John Danesh, Vincent K L Lam, Kyong Soo Park, Danish Saleheen, Wing Yee So, Claudia H T Tam, Uzma Afzal, David Aguilar, Rector Arya, Tin Aung, Edmund Chan, Carmen Navarro, Ching-Yu Cheng, Domenico Palli, Adolfo Correa, Joanne E Curran, Dennis Rybin, Vidya S Farook, Sharon P Fowler, Barry I Freedman, Michael Griswold, Daniel Esten Hale, Pamela J Hicks, Chiea-Chuen Khor, Satish Kumar, Benjamin Lehne, Dorothée Thuillier, Wei Yen Lim, Jianjun Liu, Marie Loh, Solomon K Musani, Sobha Puppala, William R Scott, Loïc Yengo, Sian-Tsung Tan, Herman A Taylor, Farook Thameem, Gregory Wilson, Tien Yin Wong, Pål Rasmus Njølstad, Jonathan C Levy, Massimo Mangino, Lori L Bonnycastle, Thomas Schwarzmayr, João Fadista, Gabriela L Surdulescu, Christian Herder, Christopher J Groves, Thomas Wieland, Jette Bork-Jensen, Ivan Brandslund, Cramer Christensen, Heikki A Koistinen, Alex S F Doney, Leena Kinnunen, Tõnu Esko, Andrew J Farmer, Liisa Hakaste, Dylan Hodgkiss, Jasmina Kravic, Valeri Lyssenko, Mette Hollensted, Marit E Jørgensen, Torben Jørgensen, Claes Ladenvall, Johanne Marie Justesen, Annemari Käräjämäki, Jennifer Kriebel, Wolfgang Rathmann, Lars Lannfelt, Torsten Lauritzen, Narisu Narisu, Allan Linneberg, Olle Melander, Lili Milani, Matt Neville, Marju Orho-Melander, Lu Qi, Qibin Qi, Michael Roden, Olov Rolandsson, Amy Swift, Anders H Rosengren, Kathleen Stirrups, Andrew R Wood, Evelin Mihailov, Christine Blancher, Mauricio O Carneiro, Jared Maguire, Ryan Poplin, Khalid Shakir, Timothy Fennell, Mark DePristo, Martin Hrabé de Angelis, Panos Deloukas, Anette P Gjesing, Goo Jun, Peter Nilsson, Jacquelyn Murphy, Robert Onofrio, Barbara Thorand, Torben Hansen, Christa Meisinger, Frank B Hu, Bo Isomaa, Fredrik Karpe, Liming Liang, Annette Peters, Cornelia Huth, Stephen P O'Rahilly, Colin N A Palmer, Oluf Pedersen, Rainer Rauramaa, Jaakko Tuomilehto, Veikko Salomaa, Richard M Watanabe, Ann-Christine Syvänen, Richard N Bergman, Dwaipayan Bharadwaj, Erwin P Bottinger, Yoon Shin Cho, Giriraj R Chandak, Juliana Cn Chan, Kee Seng Chia, Mark J Daly, Shah B Ebrahim, Claudia Langenberg, Paul Elliott, Kathleen A Jablonski, Donna M Lehman, Weiping Jia, Ronald C W Ma, Toni I Pollin, Manjinder Sandhu, Nikhil Tandon, Philippe Froguel, Inês Barroso, Yik Ying Teo, Eleftheria Zeggini, Ruth J F Loos, Kerrin S Small, Janina S Ried, Ralph A DeFronzo, Harald Grallert, Benjamin Glaser, Andres Metspalu, Nicholas J Wareham, Mark Walker, Eric Banks, Christian Gieger, Erik Ingelsson, Hae Kyung Im, Thomas Illig, Paul W Franks, Gemma Buck, Joseph Trakalo, David Buck, Inga Prokopenko, Reedik Mägi, Lars Lind, Yossi Farjoun, Katharine R Owen, Anna L Gloyn, Konstantin Strauch, Tiinamaija Tuomi, Jaspal Singh Kooner, Jong-Young Lee, Taesung Park, Peter Donnelly, Andrew D Morris, Andrew T Hattersley, Donald W Bowden, Francis S Collins, Gil Atzmon, John C Chambers, Timothy D Spector, Markku Laakso, Tim M Strom, Graeme I Bell, John Blangero, Ravindranath Duggirala, E Shyong Tai, Gilean McVean, Craig L Hanis, James G Wilson, Mark Seielstad, Timothy M Frayling, James B Meigs, Nancy J Cox, Rob Sladek, Eric S Lander, Stacey Gabriel, Karen L Mohlke, Thomas Meitinger, Leif Groop, Goncalo Abecasis, Laura J Scott, Andrew P Morris, Hyun Min Kang, David Altshuler, Noël P Burtt, Jose C Florez, Michael Boehnke, Mark I McCarthy

ABSTRACT

To investigate the genetic basis of type 2 diabetes (T2D) to high resolution, the GoT2D and T2D-GENES consortia catalogued variation from whole-genome sequencing of 2,657 European individuals and exome sequencing of 12,940 individuals of multiple ancestries. Over 27M SNPs, indels, and structural variants were identified, including 99% of low-frequency (minor allele frequency [MAF] 0.1-5%) non-coding variants in the whole-genome sequenced individuals and 99.7% of low-frequency coding variants in the whole-exome sequenced individuals. Each variant was tested for association with T2D in the sequenced individuals, and, to increase power, most were tested in larger numbers of individuals (>80% of low-frequency coding variants in ~82 K Europeans via the exome chip, and ~90% of low-frequency non-coding variants in ~44 K Europeans via genotype imputation). The variants, genotypes, and association statistics from these analyses provide the largest reference to date of human genetic information relevant to T2D, for use in activities such as T2D-focused genotype imputation, functional characterization of variants or genes, and other novel analyses to detect associations between sequence variation and T2D. More... »

PAGES

170179

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  • Journal

    TITLE

    Scientific Data

    ISSUE

    N/A

    VOLUME

    4

    Author Affiliations

  • Broad Institute
  • University of Michigan–Ann Arbor
  • Wellcome Centre for Human Genetics
  • Massachusetts Institute of Technology
  • University of Oxford
  • King's College London
  • Wellcome Sanger Institute
  • McGill University and Génome Québec Innovation Centre
  • The University of Texas Health Science Center at Houston
  • National Heart Lung and Blood Institute
  • National Human Genome Research Institute
  • Harvard University
  • German Centre for Cardiovascular Research
  • University of Copenhagen
  • Seoul National University
  • Institute of Metabolic Science
  • National University of Singapore
  • Korea National Institute of Health
  • Jackson Laboratory
  • University of Exeter
  • Lund University
  • University of Colorado Anschutz Medical Campus
  • Duke NUS Graduate Medical School
  • McGill University Health Centre
  • Ealing Hospital NHS Trust
  • Albert Einstein College of Medicine
  • University of Pennsylvania
  • South Texas Veterans Health Care System
  • University of Eastern Finland
  • Kuopio University Hospital
  • Wake Forest University
  • Centre for research in epidemiology and population health
  • The University of Texas Health Science Center at San Antonio
  • German Institute of Human Nutrition
  • Uppsala University
  • Centre for Chronic Disease Control
  • Icahn School of Medicine at Mount Sinai
  • Imperial College London
  • University of Washington
  • Massachusetts General Hospital
  • University of Cambridge
  • Chinese University of Hong Kong
  • Center for Non-Communicable Diseases
  • Baylor College of Medicine
  • University of Murcia
  • Istituto per lo Studio e la Prevenzione Oncologica
  • University of Mississippi Medical Center
  • Boston University
  • Texas Biomedical Research Institute
  • Genome Institute of Singapore
  • Lille 1 University
  • Agency for Science, Technology and Research
  • Jackson State University
  • Haukeland University Hospital
  • Guy's and St Thomas' NHS Foundation Trust
  • German Center for Diabetes Research
  • Vejle Sygehus
  • Helsinki University Central Hospital
  • Ninewells Hospital
  • National Institute for Health and Welfare
  • Boston Children's Hospital
  • University of Helsinki
  • Steno Diabetes Center
  • Aalborg University
  • Vaasa Central Hospital
  • Helmholtz Zentrum München
  • German Diabetes Center - Leibniz Institute for Diabetes Research at Heinrich Heine University Düsseldorf
  • Aarhus University
  • University of Tartu
  • NIHR Oxford Musculoskeletal Biomedical Research Unit
  • Brigham and Women's Hospital
  • Heinrich Heine University Düsseldorf
  • Umeå University
  • Technical University Munich
  • King Abdulaziz University
  • University of Southern Denmark
  • Folkhälsans Forskningscentrum
  • Kuopion Liikuntalääketieteen Tutkimuslaitos
  • University of Southern California
  • Institute of Genomics and Integrative Biology
  • Hallym University
  • Centre for Cellular and Molecular Biology
  • George Washington University
  • University of Maryland, Baltimore
  • All India Institute of Medical Sciences
  • Hadassah Medical Center
  • Newcastle University
  • Hannover Medical School
  • Ludwig Maximilian University of Munich
  • University of Edinburgh
  • University of Haifa
  • Blood Systems Research Institute
  • McGill University
  • University of North Carolina at Chapel Hill
  • University of Liverpool
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/sdata.2017.179

    DOI

    http://dx.doi.org/10.1038/sdata.2017.179

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1099710634

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/29257133


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