Rare Functional Variant in TM2D3 is Associated with Late-Onset Alzheimer's Disease

• Johanna Jakobsdottir ,

  Contributed equally to this work with: Johanna Jakobsdottir, Sven J. van der Lee, Joshua C. Bis, Vincent Chouraki, David Li-Kroeger, Shinya Yamamoto

  Affiliation Icelandic Heart Association, Kopavogur, Iceland

  http://orcid.org/0000-0002-8019-9683

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• Sven J. van der Lee ,

  Contributed equally to this work with: Johanna Jakobsdottir, Sven J. van der Lee, Joshua C. Bis, Vincent Chouraki, David Li-Kroeger, Shinya Yamamoto

  Affiliation Department of Epidemiology, Erasmus University Medical Center, Rotterdam, The Netherlands

  http://orcid.org/0000-0003-1606-8643

  ⨯
• Joshua C. Bis ,

  Contributed equally to this work with: Johanna Jakobsdottir, Sven J. van der Lee, Joshua C. Bis, Vincent Chouraki, David Li-Kroeger, Shinya Yamamoto

  Affiliation Cardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, Washington, United States of America

  ⨯
• Vincent Chouraki ,

  Contributed equally to this work with: Johanna Jakobsdottir, Sven J. van der Lee, Joshua C. Bis, Vincent Chouraki, David Li-Kroeger, Shinya Yamamoto

  Affiliations Boston University School of Medicine, Boston, Massachusetts, United States of America, Framingham Heart Study, Framingham, Massachusetts, United States of America

  ⨯
• David Li-Kroeger ,

  Contributed equally to this work with: Johanna Jakobsdottir, Sven J. van der Lee, Joshua C. Bis, Vincent Chouraki, David Li-Kroeger, Shinya Yamamoto

  Affiliations Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America, Jan and Dan Duncan Neurological Research Institute, Texas Children’s Hospital Houston, Texas, United States of America

  ⨯
• Shinya Yamamoto ,

  Contributed equally to this work with: Johanna Jakobsdottir, Sven J. van der Lee, Joshua C. Bis, Vincent Chouraki, David Li-Kroeger, Shinya Yamamoto

  Affiliations Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America, Jan and Dan Duncan Neurological Research Institute, Texas Children’s Hospital Houston, Texas, United States of America, Program in Developmental Biology, Baylor College of Medicine, Houston, Texas, United States of America

  http://orcid.org/0000-0003-2172-8036

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• Megan L. Grove,

  Affiliation School of Public Health, Human Genetics Center, The University of Texas Health Science Center at Houston, Houston, Texas, United States of America

  ⨯
• Adam Naj,

  Affiliation Department of Biostatistics and Epidemiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America

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• Maria Vronskaya,

  Affiliation Institute of Psychological Medicine and Clinical Neurosciences, Medical Research Council (MRC) Centre for Neuropsychiatric Genetics & Genomics, Cardiff University, Cardiff, United Kingdom

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• Jose L. Salazar,

  Affiliation Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America

  http://orcid.org/0000-0002-1727-306X

  ⨯
• Anita L. DeStefano,

  Affiliations Framingham Heart Study, Framingham, Massachusetts, United States of America, Department of Biostatistics, Boston University School of Public Health, Boston, Massachusetts, United States of America

  ⨯
• Jennifer A. Brody,

  Affiliation Cardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, Washington, United States of America

  ⨯
• Albert V. Smith,

  Affiliations Icelandic Heart Association, Kopavogur, Iceland, Faculty of Medicine, University of Iceland, Reykjavik, Iceland, United States of America

  ⨯
• Najaf Amin,

  Affiliation Department of Epidemiology, Erasmus University Medical Center, Rotterdam, The Netherlands

  ⨯
• Rebecca Sims,

  Affiliation Institute of Psychological Medicine and Clinical Neurosciences, Medical Research Council (MRC) Centre for Neuropsychiatric Genetics & Genomics, Cardiff University, Cardiff, United Kingdom

  ⨯
• Carla A. Ibrahim-Verbaas,

  Affiliations Department of Epidemiology, Erasmus University Medical Center, Rotterdam, The Netherlands, Department of Neurology, Erasmus University Medical Center, CA Rotterdam, The Netherlands

  ⨯
• Seung-Hoan Choi,

  Affiliations Framingham Heart Study, Framingham, Massachusetts, United States of America, Department of Biostatistics, Boston University School of Public Health, Boston, Massachusetts, United States of America

  ⨯
• Claudia L. Satizabal,

  Affiliations Boston University School of Medicine, Boston, Massachusetts, United States of America, Framingham Heart Study, Framingham, Massachusetts, United States of America

  ⨯
• Oscar L. Lopez,

  Affiliation Department of Neurology, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania, United States of America

  ⨯
• Alexa Beiser,

  Affiliations Boston University School of Medicine, Boston, Massachusetts, United States of America, Framingham Heart Study, Framingham, Massachusetts, United States of America, Department of Biostatistics, Boston University School of Public Health, Boston, Massachusetts, United States of America

  ⨯
• M. Arfan Ikram,

  Affiliations Department of Epidemiology, Erasmus University Medical Center, Rotterdam, The Netherlands, Department of Neurology, Erasmus University Medical Center, CA Rotterdam, The Netherlands, Departments of Radiology, Erasmus University Medical Center, CA Rotterdam, The Netherlands

  ⨯
• Melissa E. Garcia,

  Affiliation Laboratory of Epidemiology and Population Sciences, National Institute on Aging, Bethesda, Maryland, United States of America

  ⨯
• Caroline Hayward,

  Affiliations MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom, Generation Scotland, Centre for Genomic and Experimental Medicine, University of Edinburgh, Edinburgh, United Kingdom

  ⨯
• Tibor V. Varga,

  Affiliation Department of Clinical Sciences, Genetic and Molecular Epidemiology Unit, Lund University, Malmö, Sweden

  http://orcid.org/0000-0002-2383-699X

  ⨯
• Samuli Ripatti,

  Affiliations Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland, Department of Public Health, University of Helsinki, Helsinki, Finland

  ⨯
• Paul W. Franks,

  Affiliations Department of Clinical Sciences, Genetic and Molecular Epidemiology Unit, Lund University, Malmö, Sweden, Department of Public Health & Clinical Medicine, Umeå University Hospital, Umeå, Sweden, Department of Nutrition, Harvard T.H. Chan School of Public Health, Boston, Massachusetts, United States of America

  ⨯
• Göran Hallmans,

  Affiliation Department of Biobank Research, Umeå University, Umeå, Sweden

  ⨯
• Olov Rolandsson,

  Affiliation Department of Public Health & Clinical Medicine, Section for Family Medicine, Umeå University, Umeå, Sweden

  ⨯
• Jan-Håkon Jansson,

  Affiliations Department of Public Health & Clinical Medicine, Umeå University Hospital, Umeå, Sweden, Research Unit, Skellefteå Hospital, Skellefteå, Sweden

  ⨯
• David J. Porteous,

  Affiliations Generation Scotland, Centre for Genomic and Experimental Medicine, University of Edinburgh, Edinburgh, United Kingdom, Centre for Genomic and Experimental Medicine, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom

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• Veikko Salomaa,

  Affiliation National Institute for Health and Welfare, Helsinki, Finland

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• Gudny Eiriksdottir,

  Affiliation Icelandic Heart Association, Kopavogur, Iceland

  ⨯
• Kenneth M. Rice,

  Affiliation Department of Biostatistics, University of Washington, Seattle, Washington, United States of America

  ⨯
• Hugo J. Bellen,

  Affiliations Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America, Jan and Dan Duncan Neurological Research Institute, Texas Children’s Hospital Houston, Texas, United States of America, Program in Developmental Biology, Baylor College of Medicine, Houston, Texas, United States of America, Howard Hughes Medical Institute, Durham, North Carolina, United States of America

  ⨯
• Daniel Levy,

  Affiliations Framingham Heart Study, Framingham, Massachusetts, United States of America, Division of Intramural Research, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland, United states of America, Boston University School of Medicine, Boston, Massachusetts, United States of America

  ⨯
• Andre G. Uitterlinden,

  Affiliations Department of Epidemiology, Erasmus University Medical Center, Rotterdam, The Netherlands, Department of Internal Medicine, Erasmus University Medical Center, CA Rotterdam, The Netherlands

  ⨯
• Valur Emilsson,

  Affiliations Icelandic Heart Association, Kopavogur, Iceland, Faculty of Pharmaceutical Sciences, University of Iceland, Reykjavik, Iceland

  ⨯
• Jerome I. Rotter,

  Affiliation Institute for Translational Genomics and Population Sciences, Los Angeles BioMedical Research Institute and Departments of Medicine and Pediatrics, Harbor-UCLA Medical Center, Torrance, California, United States of America

  ⨯
• Thor Aspelund,

  Affiliations Icelandic Heart Association, Kopavogur, Iceland, Centre for Public Health, University of Iceland, Reykjavik, Iceland

  ⨯
• Cohorts for Heart and Aging Research in Genomic Epidemiology consortium ,

  ¶Membership of Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium, Alzheimer’s Disease Genetic Consortium, and Genetic and Environmental Risk in Alzheimer’s Disease Consortium are listed in S1 Text.

  ⨯
• Alzheimer’s Disease Genetic Consortium ,

  ¶Membership of Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium, Alzheimer’s Disease Genetic Consortium, and Genetic and Environmental Risk in Alzheimer’s Disease Consortium are listed in S1 Text.

  ⨯
• Genetic and Environmental Risk in Alzheimer’s Disease consortium ,

  ¶Membership of Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium, Alzheimer’s Disease Genetic Consortium, and Genetic and Environmental Risk in Alzheimer’s Disease Consortium are listed in S1 Text.

  ⨯
• Christopher J. O’Donnell,

  Affiliations Framingham Heart Study, Framingham, Massachusetts, United States of America, Division of Intramural Research, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland, United states of America

  ⨯
• Annette L. Fitzpatrick,

  Affiliations Department of Epidemiology, University of Washington, Seattle, Washington, United States of America, Collaborative Health Studies Coordinating Center, Seattle, Washington, United States of America

  ⨯
• Lenore J. Launer,

  Affiliation Laboratory of Epidemiology and Population Sciences, National Institute on Aging, Bethesda, Maryland, United States of America

  ⨯
• Albert Hofman,

  Affiliation Department of Epidemiology, Erasmus University Medical Center, Rotterdam, The Netherlands

  ⨯
• Li-San Wang,

  Affiliation Department of Pathology and Laboratory of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America

  ⨯
• Julie Williams,

  Affiliation Institute of Psychological Medicine and Clinical Neurosciences, Medical Research Council (MRC) Centre for Neuropsychiatric Genetics & Genomics, Cardiff University, Cardiff, United Kingdom

  ⨯
• Gerard D. Schellenberg,

  Affiliation Department of Pathology and Laboratory of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America

  ⨯
• Eric Boerwinkle ,

  ¶‡ EB and BMP also contributed equally to this work. SS and JMS also contributed equally to this work. VG and CMvD also contributed equally to this work.

  Affiliations School of Public Health, Human Genetics Center, The University of Texas Health Science Center at Houston, Houston, Texas, United States of America, Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, United States of America

  ⨯
• Bruce M. Psaty ,

  ¶‡ EB and BMP also contributed equally to this work. SS and JMS also contributed equally to this work. VG and CMvD also contributed equally to this work.

  Affiliations Cardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, Washington, United States of America, Department of Epidemiology, University of Washington, Seattle, Washington, United States of America, Department of Health Services, University of Washington, Seattle, Washington, United States of America, Group Health Research Institute, Group Health Cooperative, Seattle, Washington, United States of America

  ⨯
• Sudha Seshadri ,

  ¶‡ EB and BMP also contributed equally to this work. SS and JMS also contributed equally to this work. VG and CMvD also contributed equally to this work.

  Affiliations Boston University School of Medicine, Boston, Massachusetts, United States of America, Framingham Heart Study, Framingham, Massachusetts, United States of America

  ⨯
• Joshua M. Shulman ,

  * E-mail: Joshua.Shulman@bcm.edu (JMS); villi@hjarta.is (VG); c.vanduijn@erasmusmc.nl (CMvD)

  ¶‡ EB and BMP also contributed equally to this work. SS and JMS also contributed equally to this work. VG and CMvD also contributed equally to this work.

  Affiliations Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America, Jan and Dan Duncan Neurological Research Institute, Texas Children’s Hospital Houston, Texas, United States of America, Program in Developmental Biology, Baylor College of Medicine, Houston, Texas, United States of America

  ⨯
• Vilmundur Gudnason ,

  * E-mail: Joshua.Shulman@bcm.edu (JMS); villi@hjarta.is (VG); c.vanduijn@erasmusmc.nl (CMvD)

  ¶‡ EB and BMP also contributed equally to this work. SS and JMS also contributed equally to this work. VG and CMvD also contributed equally to this work.

  Affiliations Icelandic Heart Association, Kopavogur, Iceland, Faculty of Medicine, University of Iceland, Reykjavik, Iceland, United States of America

  ⨯
•  [ ... ],
• Cornelia M. van Duijn

  * E-mail: Joshua.Shulman@bcm.edu (JMS); villi@hjarta.is (VG); c.vanduijn@erasmusmc.nl (CMvD)

  ¶‡ EB and BMP also contributed equally to this work. SS and JMS also contributed equally to this work. VG and CMvD also contributed equally to this work.

  Affiliation Department of Epidemiology, Erasmus University Medical Center, Rotterdam, The Netherlands

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