Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease

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  447. Show all authors +
  1. 1 Cardiff University
    info

    Cardiff University

    Cardiff, Reino Unido

    ROR https://ror.org/03kk7td41

  2. 2 Erasmus University Medical Center
    info

    Erasmus University Medical Center

    Róterdam, Holanda

    ROR https://ror.org/018906e22

  3. 3 Department of Biostatistics and Epidemiology, Center for Clinical Epidemiology and Biostatistics, University of Pennsylvania Perelman School of Medicine
  4. 4 French Institute of Health and Medical Research
    info

    French Institute of Health and Medical Research

    París, Francia

    ROR https://ror.org/02vjkv261

  5. 5 Pasteur Institute of Lille
    info

    Pasteur Institute of Lille

    Lila, Francia

    ROR https://ror.org/05k9skc85

  6. 6 University Lille, U1167-Excellence Laboratory LabEx DISTALZ
  7. 7 Icelandic Heart Association
    info

    Icelandic Heart Association

    Kópavogur, Islandia

    ROR https://ror.org/051snsd81

  8. 8 John P. Hussman Institute for Human Genomics, University of Miami
  9. 9 CEA/Institut de Génomique, Centre National de Génotypage
  10. 10 University of Washington School of Medicine
    info

    University of Washington School of Medicine

    Seattle, Estados Unidos

  11. 11 Dr. John T. MacDonald Foundation, Department of Human Genetics, University of Miami
  12. 12 Institute of Human Genetics, University of Bonn
  13. 13 University of Bonn
    info

    University of Bonn

    Bonn, Alemania

    ROR https://ror.org/041nas322

  14. 14 Boston University School of Medicine
    info

    Boston University School of Medicine

    Boston, Estados Unidos

  15. 15 Framingham Heart Study
  16. 16 Penn Neurodegeneration Genomics Center, Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine
  17. 17 Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB
  18. 18 Institute Born-Bunge, University of Antwerp
  19. 19 Research Center and Memory Clinic of Fundació ACE, Institut Català de Neurociències Aplicades
  20. 20 Immunology Biomarkers Group, Genentech
  21. 21 Division of Medical Genetics, University Hospital and Department of Biomedicine, University of Basel
  22. 22 School of Public Health, Human Genetics Center, University of Texas Health Science Center at Houston
  23. 23 Columbia University
    info

    Columbia University

    Nueva York, Estados Unidos

    ROR https://ror.org/00hj8s172

  24. 24 Gertrude H. Sergievsky Center, Columbia University
  25. 25 University of Eastern Finland
    info

    University of Eastern Finland

    Kuopio, Finlandia

    ROR https://ror.org/00cyydd11

  26. 26 Department of Neurology, Kuopio University Hospital
  27. 27 Brigham and Women's Hospital
    info

    Brigham and Women's Hospital

    Boston, Estados Unidos

    ROR https://ror.org/04b6nzv94

  28. 28 German Center for Neurodegenerative Diseases (DZNE)
  29. 29 Boston University
    info

    Boston University

    Boston, Estados Unidos

    ROR https://ror.org/05qwgg493

  30. 30 University of Iceland
    info

    University of Iceland

    Reikiavik, Islandia

    ROR https://ror.org/01db6h964

  31. 31 Institute for Systems Biology
    info

    Institute for Systems Biology

    Seattle, Estados Unidos

    ROR https://ror.org/02tpgw303

  32. 32 Dublin City University
    info

    Dublin City University

    Dublín, Irlanda

    ROR https://ror.org/04a1a1e81

  33. 33 University of Cagliari
    info

    University of Cagliari

    Cagliari, Italia

    ROR https://ror.org/003109y17

  34. 34 Hospital Universitario Marqués de Valdecilla
    info

    Hospital Universitario Marqués de Valdecilla

    Santander, España

    ROR https://ror.org/01w4yqf75

  35. 35 Hospital de Gran Canaria Dr. Negrin
    info

    Hospital de Gran Canaria Dr. Negrin

    Las Palmas de Gran Canaria, España

    ROR https://ror.org/00s4vhs88

  36. 36 Brown Foundation Institute of Molecular Medicine, University of Texas Health Sciences Center at Houston
  37. 37 Departments of Medicine, Geriatrics, Gerontology and Neurology, University of Mississippi Medical Center
  38. 38 Centre Hospitalier du Rouvray
    info

    Centre Hospitalier du Rouvray

    Sotteville-lès-Rouen, Francia

    ROR https://ror.org/02y92d036

  39. 39 INSERM U1079, Rouen University, IRIB, Normandy University
  40. 40 King's College London
    info

    King's College London

    Londres, Reino Unido

    ROR https://ror.org/0220mzb33

  41. 41 Genetic Epidemiology, QIMR Berghofer Medical Research Institute
  42. 42 Karolinska University Hospital
    info

    Karolinska University Hospital

    Estocolmo, Suecia

    ROR https://ror.org/00m8d6786

  43. 43 Stockholm University
    info

    Stockholm University

    Estocolmo, Suecia

    ROR https://ror.org/05f0yaq80

  44. 44 University of Nottingham
    info

    University of Nottingham

    Nottingham, Reino Unido

    ROR https://ror.org/01ee9ar58

  45. 45 University of Washington
    info

    University of Washington

    Seattle, Estados Unidos

    ROR https://ror.org/00cvxb145

  46. 46 University of Bari Aldo Moro
    info

    University of Bari Aldo Moro

    Bari, Italia

    ROR https://ror.org/027ynra39

  47. 47 Queen's University Belfast
    info

    Queen's University Belfast

    Belfast, Reino Unido

    ROR https://ror.org/00hswnk62

  48. 48 Department of Neuroscience, Mayo Clinic
  49. 49 Geriatric Unit and Gerontology-Geriatrics Research Laboratory, Department of Medical Sciences, IRCCS Casa Sollievo della Sofferenza
  50. 50 Università di Perugia
    info

    Università di Perugia

    Perugia, Italia

    ROR https://ror.org/00x27da85

  51. 51 Department of Neurology, Rouen University Hospital
  52. 52 Hospital Universitario La Paz
    info

    Hospital Universitario La Paz

    Madrid, España

    ROR https://ror.org/01s1q0w69

  53. 53 Instituto de Investigación Sanitaria La Fe
    info

    Instituto de Investigación Sanitaria La Fe

    Valencia, España

    ROR https://ror.org/05n7v5997

  54. 54 Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas
    info

    Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas

    Madrid, España

    ROR https://ror.org/00zca7903

  55. 55 National Heart Lung and Blood Institute
    info

    National Heart Lung and Blood Institute

    Bethesda, Estados Unidos

    ROR https://ror.org/012pb6c26

  56. 56 University of Florida
    info

    University of Florida

    Gainesville, Estados Unidos

    ROR https://ror.org/02y3ad647

  57. 57 University of Parma
    info

    University of Parma

    Parma, Italia

    ROR https://ror.org/02k7wn190

  58. 58 Center for Cognitive Disorders AUSL
  59. 59 Martin Luther University Halle-Wittenberg
    info

    Martin Luther University Halle-Wittenberg

    Halle, Alemania

    ROR https://ror.org/05gqaka33

  60. 60 Uppsala University
    info

    Uppsala University

    Upsala, Suecia

    ROR https://ror.org/048a87296

  61. 61 Pierre and Marie Curie University
    info

    Pierre and Marie Curie University

    París, Francia

  62. 62 Pitié-Salpêtrière Hospital
    info

    Pitié-Salpêtrière Hospital

    París, Francia

    ROR https://ror.org/02mh9a093

  63. 63 Laboratory of Epidemiology and Population Sciences, National Institute on Aging
  64. 64 Centre Hospitalier Regional et Universitaire de Lille
    info

    Centre Hospitalier Regional et Universitaire de Lille

    Lila, Francia

    ROR https://ror.org/02ppyfa04

  65. 65 Department of Pharmacology and Neuroscience, University of North Texas Health Science Center
  66. 66 University Medical Center Hamburg-Eppendorf
    info

    University Medical Center Hamburg-Eppendorf

    Hamburgo, Alemania

    ROR https://ror.org/01zgy1s35

  67. 67 University of Texas Southwestern Medical Center
    info

    University of Texas Southwestern Medical Center

    Dallas, Estados Unidos

    ROR https://ror.org/05byvp690

  68. 68 University of Cologne
    info

    University of Cologne

    Colonia, Alemania

    ROR https://ror.org/00rcxh774

  69. 69 Johns Hopkins University
    info

    Johns Hopkins University

    Baltimore, Estados Unidos

    ROR https://ror.org/00za53h95

  70. 70 University of Leipzig
    info

    University of Leipzig

    Leipzig, Alemania

    ROR https://ror.org/03s7gtk40

  71. 71 Department of Neurology, Clinical Division of Neurogeriatrics, Medical University Graz
  72. 72 Harvard University
    info

    Harvard University

    Cambridge, Estados Unidos

    ROR https://ror.org/03vek6s52

  73. 73 Massachusetts General Hospital
    info

    Massachusetts General Hospital

    Boston, Estados Unidos

    ROR https://ror.org/002pd6e78

  74. 74 Catholic University of the Sacred Heart
    info

    Catholic University of the Sacred Heart

    Milán, Italia

    ROR https://ror.org/03h7r5v07

  75. 75 Institute of Molecular Biology and Biochemistry, Medical University Graz
  76. 76 Baylor College of Medicine
    info

    Baylor College of Medicine

    Houston, Estados Unidos

    ROR https://ror.org/02pttbw34

  77. 77 Experimental Neuropsychiatry Laboratory, IRCCS Santa Lucia Foundation, Department of Clinical and Behavioural Neurology
  78. 78 Office of Strategy and Measurement, University of North Texas Health Science Center
  79. 79 University of Pittsburgh
    info

    University of Pittsburgh

    Pittsburgh, Estados Unidos

    ROR https://ror.org/01an3r305

  80. 80 Indiana University – Purdue University Indianapolis
    info

    Indiana University – Purdue University Indianapolis

    Indianápolis, Estados Unidos

    ROR https://ror.org/05gxnyn08

  81. 81 Washington University in St. Louis School of Medicine
    info

    Washington University in St. Louis School of Medicine

    San Luis, Estados Unidos

  82. 82 Albert Einstein College of Medicine
    info

    Albert Einstein College of Medicine

    Nueva York, Estados Unidos

    ROR https://ror.org/05cf8a891

  83. 83 Utah State University
    info

    Utah State University

    Logan, Estados Unidos

    ROR https://ror.org/00h6set76

  84. 84 Fundació per la Recerca Biomèdica i Social Mútua Terrassa, Terrassa
  85. 85 Hospital Universitari de Bellvitge
    info

    Hospital Universitari de Bellvitge

    l'Hospitalet de Llobregat, España

    ROR https://ror.org/00epner96

  86. 86 Université de Toulouse
    info

    Université de Toulouse

    Tolosa, Francia

  87. 87 Elderly and Psychiatric Disorders Department, Medical University of Lodz
  88. 88 University of Leicester
    info

    University of Leicester

    Leicester, Reino Unido

    ROR https://ror.org/04h699437

  89. 89 Department of Neurodegenerative Disease, MRC Prion Unit, UCL Institute of Neurology
  90. 90 University of Milan
    info

    University of Milan

    Milán, Italia

    ROR https://ror.org/00wjc7c48

  91. 91 Department of Psychiatry and Psychotherapy, University Hospital
  92. 92 Universitat Autònoma de Barcelona
    info

    Universitat Autònoma de Barcelona

    Barcelona, España

    ROR https://ror.org/052g8jq94

  93. 93 Regional Neurogenetic Centre (CRN), ASP Catanzaro
  94. 94 University of Florence
    info

    University of Florence

    Florencia, Italia

    ROR https://ror.org/04jr1s763

  95. 95 IRCCS 'Don Carlo Gnocchi'
  96. 96 Essen University Hospital
    info

    Essen University Hospital

    Essen, Alemania

    ROR https://ror.org/02na8dn90

  97. 97 University of Erlangen-Nuremberg
    info

    University of Erlangen-Nuremberg

    Erlangen, Alemania

    ROR https://ror.org/00f7hpc57

  98. 98 Istituto di Ricovero e Cura A Carattere Scientifico (IRCCS) Associazione Oasi Maria Santissima Srl
  99. 99 Trinity College Dublin
    info

    Trinity College Dublin

    Dublín, Irlanda

    ROR https://ror.org/02tyrky19

  100. 100 Department of Molecular Neuroscience, UCL, Institute of Neurology
  101. 101 University of Michigan–Ann Arbor
    info

    University of Michigan–Ann Arbor

    Ann Arbor, Estados Unidos

    ROR https://ror.org/00jmfr291

  102. 102 Geriatric Research, Education and Clinical Center (GRECC), VA Ann Arbor Healthcare System (VAAAHS)
  103. 103 Michigan Alzheimer Disease Center
  104. 104 Indiana Alzheimer's Disease Center, Indiana University School of Medicine
  105. 105 Department of Psychiatry, University of Pennsylvania Perelman School of Medicine
  106. 106 University of Wisconsin–Madison
    info

    University of Wisconsin–Madison

    Madison, Estados Unidos

    ROR https://ror.org/01y2jtd41

  107. 107 Wisconsin Alzheimer's Disease Research Center
  108. 108 Department of Neurological Sciences, Rush University Medical Center
  109. 109 Department of Behavioral Sciences, Rush University Medical Center
  110. 110 Rush Alzheimer's Disease Center, Rush University Medical Center
  111. 111 Civin Laboratory for Neuropathology, Banner Sun Health Research Institute
  112. 112 University of Pittsburgh School of Medicine
    info

    University of Pittsburgh School of Medicine

    Pittsburgh, Estados Unidos

  113. 113 Department of Pathology, Northwestern University Feinberg School of Medicine
  114. 114 Cognitive Neurology and Alzheimer's Disease Center, Northwestern University Feinberg School of Medicine
  115. 115 VA Puget Sound Health Care System/GRECC
  116. 116 Mayo Clinic
    info

    Mayo Clinic

    Rochester, Estados Unidos

    ROR https://ror.org/02qp3tb03

  117. 117 Swedish Medical Center
    info

    Swedish Medical Center

    Seattle, Estados Unidos

    ROR https://ror.org/004jktf35

  118. 118 University of California, San Francisco
    info

    University of California, San Francisco

    San Francisco, Estados Unidos

    ROR https://ror.org/043mz5j54

  119. 119 Duke University
    info

    Duke University

    Durham, Estados Unidos

    ROR https://ror.org/00py81415

  120. 120 University of Kansas Alzheimer's Disease Center, University of Kansas Medical Center
  121. 121 Icahn School of Medicine at Mount Sinai
    info

    Icahn School of Medicine at Mount Sinai

    Nueva York, Estados Unidos

    ROR https://ror.org/04a9tmd77

  122. 122 Washington University in St. Louis
    info

    Washington University in St. Louis

    San Luis, Estados Unidos

    ROR https://ror.org/01yc7t268

  123. 123 USF Health Byrd Alzheimer's Institute, University of South Florida
  124. 124 Fred Hutchinson Cancer Research Center
    info

    Fred Hutchinson Cancer Research Center

    Seattle, Estados Unidos

    ROR https://ror.org/007ps6h72

  125. 125 Department of Psychiatry and Behavioral Sciences, Miller School of Medicine, University of Miami
  126. 126 Medical University of South Carolina
    info

    Medical University of South Carolina

    Charleston, Estados Unidos

    ROR https://ror.org/012jban78

  127. 127 University of Southern California
    info

    University of Southern California

    Los Ángeles, Estados Unidos

    ROR https://ror.org/03taz7m60

  128. 128 Department of Neurology, Ralph H. Johnson VA Medical Center
  129. 129 University of California, Irvine
    info

    University of California, Irvine

    Irvine, Estados Unidos

    ROR https://ror.org/04gyf1771

  130. 130 University of California, Davis
    info

    University of California, Davis

    Davis, Estados Unidos

    ROR https://ror.org/05rrcem69

  131. 131 Wien Center for Alzheimer's Disease and Memory Disorders, Mount Sinai Medical Center
  132. 132 Rush Institute for Healthy Aging, Department of Internal Medicine, Rush University Medical Center
  133. 133 University of Alabama at Birmingham
    info

    University of Alabama at Birmingham

    Birmingham, Estados Unidos

    ROR https://ror.org/008s83205

  134. 134 Sanders-Brown Center on Aging, Department of Biostatistics, University of Kentucky
  135. 135 New York University
    info

    New York University

    Nueva York, Estados Unidos

    ROR https://ror.org/0190ak572

  136. 136 Department of Neurosciences, University of California
  137. 137 Emory University
    info

    Emory University

    Atlanta, Estados Unidos

    ROR https://ror.org/03czfpz43

  138. 138 University of California Los Angeles
    info

    University of California Los Angeles

    Los Ángeles, Estados Unidos

    ROR https://ror.org/046rm7j60

  139. 139 Department of Neurology, Mayo Clinic
  140. 140 Neurogenomics Division, Translational Genomics Research Institute
  141. 141 Sanders-Brown Center on Aging, College of Public Health, Department of Epidemiology, University of Kentucky
  142. 142 Department of Neurology, Oregon Health and Science University
  143. 143 Department of Neurology, Portland Veterans Affairs Medical Center
  144. 144 Cleveland Clinic
    info

    Cleveland Clinic

    Cleveland, Estados Unidos

    ROR https://ror.org/03xjacd83

  145. 145 University of Miami
    info

    University of Miami

    Coral Gables, Estados Unidos

    ROR https://ror.org/02dgjyy92

  146. 146 University of California, San Diego
    info

    University of California, San Diego

    San Diego, Estados Unidos

    ROR https://ror.org/0168r3w48

  147. 147 Department of Neurology, Northwestern University Feinberg School of Medicine
  148. 148 Internal Medicine, Division of Geriatrics, University of North Texas Health Science Center
  149. 149 Department of Internal Medicine, University of New Mexico Health Sciences Center
  150. 150 Department of Neurology, University of Colorado School of Medicine
  151. 151 University of Toronto
    info

    University of Toronto

    Toronto, Canadá

    ROR https://ror.org/03dbr7087

  152. 152 Department of Pathology (Neuropathology), Rush University Medical Center
  153. 153 Translational Medicine, Novartis Institutes for Biomedical Research
  154. 154 Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine
  155. 155 Sanders-Brown Center on Aging, Department of Anatomy and Neurobiology, University of Kentucky
  156. 156 Department of Psychiatry, Northwestern University Feinberg School of Medicine
  157. 157 University of North Carolina at Chapel Hill
    info

    University of North Carolina at Chapel Hill

    Chapel Hill, Estados Unidos

    ROR https://ror.org/0130frc33

  158. 158 Department of Pathology, Oregon Health and Science University
  159. 159 Evelyn F. McKnight Brain Institute, Department of Neurology, Miller School of Medicine, University of Miami
  160. 160 Department of Neurology and Memory Clinic, Hospital Network Antwerp
  161. 161 University of Leuven
    info

    University of Leuven

    Lovaina, Bélgica

    ROR https://ror.org/05f950310

  162. 162 Karolinska Institute
    info

    Karolinska Institute

    Estocolmo, Suecia

    ROR https://ror.org/056d84691

  163. 163 University Paris Descartes, EA 4468, AP-HP, Hôpital Broca, Geriatrics Department
  164. 164 University of Bordeaux
    info

    University of Bordeaux

    Burdeos, Francia

    ROR https://ror.org/057qpr032

  165. 165 INSERM U1061, La Colombière Hospital
  166. 166 Institut des Neurosciences Translationnelles de Paris (IHU-A-ICM), Institut du Cerveau et de la Moelle Epinière (ICM)
  167. 167 INSERM, CNRS, UMRS 975, Institut du Cerveau et de la Moelle Epinière (ICM)
  168. 168 Group Health Research Institute, Group Health
  169. 169 Institute for Translational Genomics and Population Sciences, Los Angeles BioMedical Research Institute at Harbor-UCLA Medical Center
  170. 170 Centro de Biología Molecular Severo Ochoa
    info

    Centro de Biología Molecular Severo Ochoa

    Madrid, España

    ROR https://ror.org/03v9e8t09

  171. 171 Molecular Genetics Laboratory-Hospital, University of Central Asturias
  172. 172 Netherlands Consortium on Health Aging and National Genomics Initiative
  173. 173 Arizona Alzheimer's Consortium
  174. 174 Banner Alzheimer's Institute
  175. 175 University of Arizona
    info

    University of Arizona

    Tucson, Estados Unidos

    ROR https://ror.org/03m2x1q45

  176. 176 University of Texas Health Science Center at San Antonio
    info

    University of Texas Health Science Center at San Antonio

    San Antonio, Estados Unidos

    ROR https://ror.org/02f6dcw23

  177. 177 Klinikum der Universität München
    info

    Klinikum der Universität München

    Múnich, Alemania

    ROR https://ror.org/02jet3w32

  178. 178 German Center for Neurodegenerative Diseases (DZNE)
  179. 179 Cambridge Institute for Medical Research, University of Cambridge
  180. 180 University of Pisa
    info

    University of Pisa

    Pisa, Italia

    ROR https://ror.org/03ad39j10

  181. 181 Pfizer (United States)
    info

    Pfizer (United States)

    Nueva York, Estados Unidos

    ROR https://ror.org/01xdqrp08

  182. 182 Departments of Neurology, Pharmacology and Neuroscience, Texas Tech University Health Science Center
  183. 183 Charité
    info

    Charité

    Berlín, Alemania

    ROR https://ror.org/001w7jn25

  184. 184 Institute of Public Health, University of Cambridge
  185. 185 Universidade de Aveiro
    info

    Universidade de Aveiro

    Aveiro, Portugal

    ROR https://ror.org/00nt41z93

  186. 186 University of Manchester
    info

    University of Manchester

    Mánchester, Reino Unido

    ROR https://ror.org/027m9bs27

  187. 187 3rd Department of Neurology, Medical School, Aristotle University of Thessaloniki
  188. 188 Division of Clinical Neurosciences, School of Medicine, University of Southampton
  189. 189 University of Oxford
    info

    University of Oxford

    Oxford, Reino Unido

    ROR https://ror.org/052gg0110

  190. 190 Florida Alzheimer's Disease Research Center
  191. 191 Columbia University Medical Center
    info

    Columbia University Medical Center

    Nueva York, Estados Unidos

    ROR https://ror.org/01esghr10

  192. 192 Memory Research and Resources Center, CMRR of Montpellier, Department of Neurology, Hospital Gui de Chauliac
  193. 193 University of Montpellier
    info

    University of Montpellier

    Montpellier, Francia

    ROR https://ror.org/051escj72

  194. 194 Memory Research and Resources Center, CMRR de Bordeaux
  195. 195 Centro de Investigación Médica Aplicada
    info

    Centro de Investigación Médica Aplicada

    Pamplona, España

  196. 196 Department of Neurology, Complejo Asistencial Universitario de Palencia
  197. 197 Children's Hospital of Philadelphia
    info

    Children's Hospital of Philadelphia

    Filadelfia, Estados Unidos

    ROR https://ror.org/01z7r7q48

  198. 198 Brigham Young University
    info

    Brigham Young University

    Provo, Estados Unidos

    ROR https://ror.org/047rhhm47

  199. 199 Case Western Reserve University
    info

    Case Western Reserve University

    Cleveland, Estados Unidos

    ROR https://ror.org/051fd9666

Journal:
Nature Genetics

ISSN: 1546-1718

Year of publication: 2017

Volume: 49

Issue: 9

Pages: 1373-1384

Type: Article

DOI: 10.1038/NG.3916 PMID: 28714976 SCOPUS: 2-s2.0-85028725970 GOOGLE SCHOLAR
Data source: Scopus