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Open Access
Peer-reviewed
Research Article
A missense variant in Mitochondrial Amidoxime Reducing Component 1 gene and protection against liver disease
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Connor A. Emdin,
Roles Conceptualization, Data curation, Formal analysis, Investigation, Methodology, Software, Validation, Visualization, Writing – original draft, Writing – review & editing
Affiliations Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts, United States of America, Department of Medicine, Harvard Medical School, Boston, Massachusetts, United States of America, Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, United States of America
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Mary E. Haas,
Roles Conceptualization, Data curation, Formal analysis, Investigation, Methodology, Writing – original draft, Writing – review & editing
Affiliations Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts, United States of America, Department of Medicine, Harvard Medical School, Boston, Massachusetts, United States of America, Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, United States of America
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Amit V. Khera,
Roles Conceptualization, Formal analysis, Investigation, Methodology, Writing – original draft, Writing – review & editing
Affiliations Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts, United States of America, Department of Medicine, Harvard Medical School, Boston, Massachusetts, United States of America, Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, United States of America
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Krishna Aragam,
Roles Formal analysis, Investigation, Writing – review & editing
Affiliations Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts, United States of America, Department of Medicine, Harvard Medical School, Boston, Massachusetts, United States of America, Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, United States of America
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Mark Chaffin,
Roles Investigation, Writing – review & editing
Affiliation Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, United States of America
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Derek Klarin,
Roles Data curation, Formal analysis, Investigation, Validation, Writing – review & editing
Affiliation Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, United States of America
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George Hindy,
Roles Data curation, Formal analysis, Validation, Writing – review & editing
Affiliation Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, United States of America
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Lan Jiang,
Roles Data curation, Formal analysis, Investigation, Validation, Writing – review & editing
Affiliations Departments of Biomedical Informatics, Vanderbilt University, Vanderbilt, Tennessee, United States of America, Departments of Medicine, Vanderbilt University, Vanderbilt, Tennessee, United States of America
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Wei-Qi Wei,
Roles Data curation, Investigation, Writing – review & editing
Affiliation Departments of Biomedical Informatics, Vanderbilt University, Vanderbilt, Tennessee, United States of America
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Qiping Feng,
Roles Data curation, Formal analysis, Investigation, Validation, Writing – review & editing
Affiliation Departments of Medicine, Vanderbilt University, Vanderbilt, Tennessee, United States of America
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Juha Karjalainen,
Roles Data curation, Formal analysis, Investigation, Validation, Writing – review & editing
Affiliations Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, United States of America, Institute for Molecular Medicine Finland (FIMM), University of Helsinki, FI, Helsinki, Finland
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Aki Havulinna,
Roles Data curation, Formal analysis, Investigation, Validation, Writing – review & editing
Affiliation Institute for Molecular Medicine Finland (FIMM), University of Helsinki, FI, Helsinki, Finland
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Tuomo Kiiskinen,
Roles Validation, Writing – review & editing
Affiliation Institute for Molecular Medicine Finland (FIMM), University of Helsinki, FI, Helsinki, Finland
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Alexander Bick,
Roles Data curation, Formal analysis, Investigation, Writing – review & editing
Affiliation Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, United States of America
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Diego Ardissino,
Roles Data curation, Formal analysis, Funding acquisition, Project administration, Writing – review & editing
Affiliations Division of Cardiology, Azienda Ospedaliero–Universitaria di Parma, Parma, Italy, Associazione per lo Studio Della Trombosi in Cardiologia, Pavia, Italy
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James G. Wilson,
Roles Data curation, Funding acquisition, Project administration, Writing – review & editing
Affiliation Department of Physiology and Biophysics, University of Mississippi Medical Center, Jackson, Mississippi, United States of America
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Heribert Schunkert,
Roles Data curation, Funding acquisition, Project administration, Writing – review & editing
Affiliation Deutsches Herzzentrum München, Technische Universität München, Deutsches Zentrum für Herz-Kreislauf-Forschung, München, Germany
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Ruth McPherson,
Roles Data curation, Formal analysis, Funding acquisition, Project administration, Writing – review & editing
Affiliation University of Ottawa Heart Institute, Ottawa, Ontario, Canada
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Hugh Watkins,
Roles Data curation, Funding acquisition, Project administration, Writing – review & editing
Affiliations Division of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, United Kingdom, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom
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Roberto Elosua,
Roles Data curation, Funding acquisition
Affiliations Cardiovascular Epidemiology and Genetics, Hospital del Mar Research Institute, Barcelona, Spain, CIBER Enfermedades Cardiovasculares (CIBERCV), Barcelona, Spain, Facultat de Medicina, Universitat de Vic-Central de Cataluña, Vic, Spain
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Matthew J. Bown,
Roles Data curation, Funding acquisition, Investigation, Writing – review & editing
Affiliation Department of Cardiovascular Sciences, University of Leicester, and NIHR Leicester Biomedical Research Centre, Leicester, United Kingdom
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Nilesh J. Samani,
Roles Data curation, Formal analysis, Investigation, Writing – review & editing
Affiliation Department of Cardiovascular Sciences, University of Leicester, and NIHR Leicester Biomedical Research Centre, Leicester, United Kingdom
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Usman Baber,
Roles Data curation, Formal analysis, Writing – review & editing
Affiliation The Zena and Michael A. Wiener Cardiovascular Institute, Icahn School of Medicine at Mount Sinai, New York, New York, United States of America
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Jeanette Erdmann,
Roles Data curation, Formal analysis, Investigation, Writing – review & editing
Affiliations Institute for Cardiogenetics, University of Lübeck, Lübeck, Germany, DZHK (German Research Centre for Cardiovascular Research), partner site Hamburg/Lübeck/Kiel, Lübeck, Germany
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Namrata Gupta,
Roles Data curation, Formal analysis, Funding acquisition, Writing – review & editing
Affiliation Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, United States of America
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John Danesh,
Roles Data curation, Formal analysis, Investigation, Writing – review & editing
Affiliations Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom, Wellcome Trust Sanger Institute, Hinxton, Cambridge, United Kingdom, National Institute of Health Research Blood and Transplant; Research Unit in Donor Health and Genomics, University of Cambridge, Cambridge, United Kingdom
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Danish Saleheen,
Roles Data curation, Formal analysis, Writing – review & editing
Affiliations Department of Biostatistics and Epidemiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America, Center for Non-Communicable Diseases, Karachi, Pakistan
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Kyong-Mi Chang,
Roles Data curation, Formal analysis, Investigation, Writing – review & editing
Affiliation Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America
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Marijana Vujkovic,
Roles Data curation, Formal analysis, Investigation, Writing – review & editing
Affiliation Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America
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Ben Voight,
Roles Data curation, Formal analysis, Writing – review & editing
Affiliation Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America
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Scott Damrauer,
Roles Data curation, Funding acquisition, Investigation, Project administration, Writing – review & editing
Affiliation Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America
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Julie Lynch,
Roles Data curation, Investigation, Writing – review & editing
Affiliation Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America
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David Kaplan,
Roles Data curation, Formal analysis, Writing – review & editing
Affiliation Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America
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Marina Serper,
Roles Data curation, Formal analysis, Project administration, Writing – review & editing
Affiliation Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America
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Philip Tsao,
Roles Data curation, Formal analysis, Writing – review & editing
Affiliation Veterans Affairs Palo Alto Health Care System, Palo Alto, California, United States of America
⨯ - Million Veteran Program,
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Josep Mercader,
Roles Data curation, Formal analysis, Investigation, Writing – review & editing
Affiliations Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts, United States of America, Department of Medicine, Harvard Medical School, Boston, Massachusetts, United States of America, Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, United States of America
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Craig Hanis,
Roles Data curation, Formal analysis, Writing – review & editing
Affiliation Human Genetics Center, School of Public Health, The University of Texas Health Science Center at Houston, Houston, Texas, United States of America
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Mark Daly,
Roles Data curation, Formal analysis, Investigation, Writing – review & editing
Affiliation Institute for Molecular Medicine Finland (FIMM), University of Helsinki, FI, Helsinki, Finland
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Joshua Denny,
Roles Data curation, Formal analysis, Investigation, Writing – review & editing
Affiliations Departments of Biomedical Informatics, Vanderbilt University, Vanderbilt, Tennessee, United States of America, Departments of Medicine, Vanderbilt University, Vanderbilt, Tennessee, United States of America
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Stacey Gabriel,
Roles Data curation, Formal analysis, Investigation, Project administration, Writing – review & editing
Affiliation Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, United States of America
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Sekar Kathiresan
Roles Conceptualization, Data curation, Formal analysis, Funding acquisition, Investigation, Methodology, Project administration, Resources, Supervision, Validation, Visualization, Writing – original draft, Writing – review & editing
* E-mail: skathiresan@vervetx.com
Affiliations Department of Medicine, Harvard Medical School, Boston, Massachusetts, United States of America, Cardiology Division, Massachusetts General Hospital, Boston, Massachusetts, United States of America, Verve Therapeutics, Boston, Massachusetts, United States of America
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A missense variant in Mitochondrial Amidoxime Reducing Component 1 gene and protection against liver disease
- Connor A. Emdin,
- Mary E. Haas,
- Amit V. Khera,
- Krishna Aragam,
- Mark Chaffin,
- Derek Klarin,
- George Hindy,
- Lan Jiang,
- Wei-Qi Wei,
- Qiping Feng
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- Published: April 13, 2020
- https://doi.org/10.1371/journal.pgen.1008629