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

Sven van der Lee, Julie Williams, Gerard Schellenberg and colleagues identify rare coding variants in PLCG2 , ABI3 and TREM2 associated with Alzheimer's disease. These genes are highly expressed in microglia and provide additional evidence that the microglia-mediated immune response contributes...

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Published inNature genetics Vol. 49; no. 9; pp. 1373 - 1384
Main Authors Badarinarayan, Nandini, Bis, Joshua C, Heilmann-Heimbach, Stefanie, Sleegers, Kristel, Vronskaya, Maria, White, Charles C, Hamilton-Nelson, Kara L, Choi, Seung-Hoan, Forstner, Andreas J, Bacq, Delphine, Brody, Jennifer A, Wolters, Frank J, Fornage, Myriam, Majounie, Elisa, Wallon, David, Lupton, Michelle K, Jian, Xueqiu, Mukherjee, Shubhabrata, Solfrizzi, Vincenzo, Allen, Mariet, Cupples, L Adrienne, Giegling, Ina, Giedraitis, Vilmantas, Wang, Xue, Mecocci, Patrizia, Eiriksdottir, Gudny, Chen, Yuning, Frosch, Matthew P, Huebinger, Ryan M, Morris, John, Sotolongo-Grau, Oscar, Katz, Mindy J, Braddel, Amy, Chapman, Jade, Hill, Matt, Vellas, Bruno, Soininen, Hilkka, Hughes, Joseph T, Mayhaus, Manuel, Maletta, Raffaele Giovanni, Carrell, David, Pilotto, Alberto, Fox, Nick C, Arnold, Steven E, Becker, James T, Burke, James R, Carlsson, Cynthia M, Clark, David G, Cribbs, David H, Duara, Ranjan, Evans, Denis A, Fallon, Kenneth B, Farlow, Martin R, Foroud, Tatiana M, Galasko, Douglas R, Jin, Lee-Way, Lah, James J, Levey, Allan I, Lieberman, Andrew P, McKee, Ann C, Morris, John C, Paulson, Henry L, Peskind, Elaine, Quinn, Joseph F, Raskind, Murray, Spina, Salvatore, Swerdlow, Russell H, Van Eldik, Linda J, Vinters, Harry V, Vonsattel, Jean Paul, De Deyn, Peter P, Concari, Letizia, Brice, Alexis, Dubois, Bruno, Tschanz, JoAnn, Fitzpatrick, Annette L, Kukull, Walter A, Bullido, María J, Coto, Eliecer, Reiman, Eric M, Gallo, Maura, Scarpini, Elio, Tsuang, Debby W, Bonuccelli, Ubaldo, Rubinsztein, David C, Bras, Jose, Guerreiro, Rita, Lovestone, Simon, Owen, Michael J, Cruchaga, Carlos, Powell, John, De Jager, Philip L, Rujescu, Dan, Ortega-Cubero, Sara, Ikram, M Arfan, Mayeux, Richard, Deleuze, Jean-François, Amin, Najaf, Amouyel, Philippe, van Duijn, Cornelia M
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LanguageEnglish
Published New York Nature Publishing Group US 01.09.2017
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Abstract Sven van der Lee, Julie Williams, Gerard Schellenberg and colleagues identify rare coding variants in PLCG2 , ABI3 and TREM2 associated with Alzheimer's disease. These genes are highly expressed in microglia and provide additional evidence that the microglia-mediated immune response contributes to the development of Alzheimer's disease. We identified rare coding variants associated with Alzheimer's disease in a three-stage case–control study of 85,133 subjects. In stage 1, we genotyped 34,174 samples using a whole-exome microarray. In stage 2, we tested associated variants ( P < 1 × 10 −4 ) in 35,962 independent samples using de novo genotyping and imputed genotypes. In stage 3, we used an additional 14,997 samples to test the most significant stage 2 associations ( P < 5 × 10 −8 ) using imputed genotypes. We observed three new genome-wide significant nonsynonymous variants associated with Alzheimer's disease: a protective variant in PLCG2 (rs72824905: p.Pro522Arg, P = 5.38 × 10 −10 , odds ratio (OR) = 0.68, minor allele frequency (MAF) cases = 0.0059, MAF controls = 0.0093), a risk variant in ABI3 (rs616338: p.Ser209Phe, P = 4.56 × 10 −10 , OR = 1.43, MAF cases = 0.011, MAF controls = 0.008), and a new genome-wide significant variant in TREM2 (rs143332484: p.Arg62His, P = 1.55 × 10 −14 , OR = 1.67, MAF cases = 0.0143, MAF controls = 0.0089), a known susceptibility gene for Alzheimer's disease. These protein-altering changes are in genes highly expressed in microglia and highlight an immune-related protein–protein interaction network enriched for previously identified risk genes in Alzheimer's disease. These genetic findings provide additional evidence that the microglia-mediated innate immune response contributes directly to the development of Alzheimer's disease.
AbstractList Sven van der Lee, Julie Williams, Gerard Schellenberg and colleagues identify rare coding variants in PLCG2 , ABI3 and TREM2 associated with Alzheimer's disease. These genes are highly expressed in microglia and provide additional evidence that the microglia-mediated immune response contributes to the development of Alzheimer's disease. We identified rare coding variants associated with Alzheimer's disease in a three-stage case–control study of 85,133 subjects. In stage 1, we genotyped 34,174 samples using a whole-exome microarray. In stage 2, we tested associated variants ( P < 1 × 10 −4 ) in 35,962 independent samples using de novo genotyping and imputed genotypes. In stage 3, we used an additional 14,997 samples to test the most significant stage 2 associations ( P < 5 × 10 −8 ) using imputed genotypes. We observed three new genome-wide significant nonsynonymous variants associated with Alzheimer's disease: a protective variant in PLCG2 (rs72824905: p.Pro522Arg, P = 5.38 × 10 −10 , odds ratio (OR) = 0.68, minor allele frequency (MAF) cases = 0.0059, MAF controls = 0.0093), a risk variant in ABI3 (rs616338: p.Ser209Phe, P = 4.56 × 10 −10 , OR = 1.43, MAF cases = 0.011, MAF controls = 0.008), and a new genome-wide significant variant in TREM2 (rs143332484: p.Arg62His, P = 1.55 × 10 −14 , OR = 1.67, MAF cases = 0.0143, MAF controls = 0.0089), a known susceptibility gene for Alzheimer's disease. These protein-altering changes are in genes highly expressed in microglia and highlight an immune-related protein–protein interaction network enriched for previously identified risk genes in Alzheimer's disease. These genetic findings provide additional evidence that the microglia-mediated innate immune response contributes directly to the development of Alzheimer's disease.
We identified rare coding variants associated with Alzheimer's disease in a three-stage case-control study of 85,133 subjects. In stage 1, we genotyped 34,174 samples using a whole-exome microarray. In stage 2, we tested associated variants (P < 1 × 10-4) in 35,962 independent samples using de novo genotyping and imputed genotypes. In stage 3, we used an additional 14,997 samples to test the most significant stage 2 associations (P < 5 × 10-8) using imputed genotypes. We observed three new genome-wide significant nonsynonymous variants associated with Alzheimer's disease: a protective variant in PLCG2 (rs72824905: p.Pro522Arg, P = 5.38 × 10-10, odds ratio (OR) = 0.68, minor allele frequency (MAF)cases = 0.0059, MAFcontrols = 0.0093), a risk variant in ABI3 (rs616338: p.Ser209Phe, P = 4.56 × 10-10, OR = 1.43, MAFcases = 0.011, MAFcontrols = 0.008), and a new genome-wide significant variant in TREM2 (rs143332484: p.Arg62His, P = 1.55 × 10-14, OR = 1.67, MAFcases = 0.0143, MAFcontrols = 0.0089), a known susceptibility gene for Alzheimer's disease. These protein-altering changes are in genes highly expressed in microglia and highlight an immune-related protein-protein interaction network enriched for previously identified risk genes in Alzheimer's disease. These genetic findings provide additional evidence that the microglia-mediated innate immune response contributes directly to the development of Alzheimer's disease.
We identified rare coding variants associated with Alzheimer's disease in a three-stage case-control study of 85,133 subjects. In stage 1, we genotyped 34,174 samples using a whole-exome microarray. In stage 2, we tested associated variants (P &lt; 1 x 10(-4)) in 35,962 independent samples using de novo genotyping and imputed genotypes. In stage 3, we used an additional 14,997 samples to test the most significant stage 2 associations (P &lt; 5 x 10(-8)) using imputed genotypes. We observed three new genome-wide significant nonsynonymous variants associated with Alzheimer's disease: a protective variant in PLCG2 (rs72824905: p. Pro522Arg, P = 5.38 x 10(-10), odds ratio (OR) = 0.68, minor allele frequency (MAF) cases = 0.0059, MAFcontrols = 0.0093), a risk variant in ABI3 (rs616338: p. Ser209Phe, P = 4.56 x 10-10, OR = 1.43, MAFcases = 0.011, MAFcontrols = 0.008), and a new genome-wide significant variant in TREM2 (rs143332484: p. Arg62His, P = 1.55 x 10(-14), OR = 1.67, MAFcases = 0.0143, MAFcontrols = 0.0089), a known susceptibility gene for Alzheimer's disease. These protein-altering changes are in genes highly expressed in microglia and highlight an immune-related protein-protein interaction network enriched for previously identified risk genes in Alzheimer's disease. These genetic findings provide additional evidence that the microglia-mediated innate immune response contributes directly to the development of Alzheimer's disease.
We identified rare coding variants associated with Alzheimer's disease in a three-stage case-control study of 85,133 subjects. In stage 1, we genotyped 34,174 samples using a whole-exome microarray. In stage 2, we tested associated variants (P < 1 × 10 ) in 35,962 independent samples using de novo genotyping and imputed genotypes. In stage 3, we used an additional 14,997 samples to test the most significant stage 2 associations (P < 5 × 10 ) using imputed genotypes. We observed three new genome-wide significant nonsynonymous variants associated with Alzheimer's disease: a protective variant in PLCG2 (rs72824905: p.Pro522Arg, P = 5.38 × 10 , odds ratio (OR) = 0.68, minor allele frequency (MAF) = 0.0059, MAF = 0.0093), a risk variant in ABI3 (rs616338: p.Ser209Phe, P = 4.56 × 10 , OR = 1.43, MAF = 0.011, MAF = 0.008), and a new genome-wide significant variant in TREM2 (rs143332484: p.Arg62His, P = 1.55 × 10 , OR = 1.67, MAF = 0.0143, MAF = 0.0089), a known susceptibility gene for Alzheimer's disease. These protein-altering changes are in genes highly expressed in microglia and highlight an immune-related protein-protein interaction network enriched for previously identified risk genes in Alzheimer's disease. These genetic findings provide additional evidence that the microglia-mediated innate immune response contributes directly to the development of Alzheimer's disease.
We identified rare coding variants associated with Alzheimer's disease in a three-stage case-control study of 85,133 subjects. In stage 1, we genotyped 34,174 samples using a whole-exome microarray. In stage 2, we tested associated variants (P < 1 × 10-4) in 35,962 independent samples using de novo genotyping and imputed genotypes. In stage 3, we used an additional 14,997 samples to test the most significant stage 2 associations (P < 5 × 10-8) using imputed genotypes. We observed three new genome-wide significant nonsynonymous variants associated with Alzheimer's disease: a protective variant in PLCG2 (rs72824905: p.Pro522Arg, P = 5.38 × 10-10, odds ratio (OR) = 0.68, minor allele frequency (MAF)cases = 0.0059, MAFcontrols = 0.0093), a risk variant in ABI3 (rs616338: p.Ser209Phe, P = 4.56 × 10-10, OR = 1.43, MAFcases = 0.011, MAFcontrols = 0.008), and a new genome-wide significant variant in TREM2 (rs143332484: p.Arg62His, P = 1.55 × 10-14, OR = 1.67, MAFcases = 0.0143, MAFcontrols = 0.0089), a known susceptibility gene for Alzheimer's disease. These protein-altering changes are in genes highly expressed in microglia and highlight an immune-related protein-protein interaction network enriched for previously identified risk genes in Alzheimer's disease. These genetic findings provide additional evidence that the microglia-mediated innate immune response contributes directly to the development of Alzheimer's disease.We identified rare coding variants associated with Alzheimer's disease in a three-stage case-control study of 85,133 subjects. In stage 1, we genotyped 34,174 samples using a whole-exome microarray. In stage 2, we tested associated variants (P < 1 × 10-4) in 35,962 independent samples using de novo genotyping and imputed genotypes. In stage 3, we used an additional 14,997 samples to test the most significant stage 2 associations (P < 5 × 10-8) using imputed genotypes. We observed three new genome-wide significant nonsynonymous variants associated with Alzheimer's disease: a protective variant in PLCG2 (rs72824905: p.Pro522Arg, P = 5.38 × 10-10, odds ratio (OR) = 0.68, minor allele frequency (MAF)cases = 0.0059, MAFcontrols = 0.0093), a risk variant in ABI3 (rs616338: p.Ser209Phe, P = 4.56 × 10-10, OR = 1.43, MAFcases = 0.011, MAFcontrols = 0.008), and a new genome-wide significant variant in TREM2 (rs143332484: p.Arg62His, P = 1.55 × 10-14, OR = 1.67, MAFcases = 0.0143, MAFcontrols = 0.0089), a known susceptibility gene for Alzheimer's disease. These protein-altering changes are in genes highly expressed in microglia and highlight an immune-related protein-protein interaction network enriched for previously identified risk genes in Alzheimer's disease. These genetic findings provide additional evidence that the microglia-mediated innate immune response contributes directly to the development of Alzheimer's disease.
We identified rare coding variants associated with Alzheimer’s disease (AD) in a 3-stage case-control study of 85,133 subjects. In stage 1, 34,174 samples were genotyped using a whole-exome microarray. In stage 2, we tested associated variants ( P <1×10 -4 ) in 35,962 independent samples using de novo genotyping and imputed genotypes. In stage 3, an additional 14,997 samples were used to test the most significant stage 2 associations ( P <5×10 -8 ) using imputed genotypes. We observed 3 novel genome-wide significant (GWS) AD associated non-synonymous variants; a protective variant in PLCG2 (rs72824905/p.P522R, P =5.38×10 -10 , OR=0.68, MAF cases =0.0059, MAF controls =0.0093), a risk variant in ABI3 (rs616338/p.S209F, P =4.56×10 -10 , OR=1.43, MAF cases =0.011, MAF controls =0.008), and a novel GWS variant in TREM2 (rs143332484/p.R62H, P =1.55×10 -14 , OR=1.67, MAF cases =0.0143, MAF controls =0.0089), a known AD susceptibility gene. These protein-coding changes are in genes highly expressed in microglia and highlight an immune-related protein-protein interaction network enriched for previously identified AD risk genes. These genetic findings provide additional evidence that the microglia-mediated innate immune response contributes directly to AD development.
Audience Academic
Author Ritchie, Karen
Murrell, Jill R
Buxbaum, Joseph D
Boada, Merce
Peters, Oliver
Duara, Ranjan
Albin, Roger L
Ciaramella, Antonio
Kuzma, Amanda B
Fornage, Myriam
Green, Robert C
Amin, Najaf
Jakobsdottir, Johanna
Weintraub, Sandra
Heun, Reinhard
Burns, Jeffrey M
Galimberti, Daniela
Tarraga, Lluis
Baldwin, Clinton T
Spina, Salvatore
Kilander, Lena
Hughes, Joseph T
Herms, Stefan
Vonsattel, Jean Paul
Eiriksdottir, Gudny
Faber, Kelley M
Kaye, Jeffrey A
Bonuccelli, Ubaldo
Apostolova, Liana G
Royall, Donald R
Masullo, Carlo
Vandenberghe, Rik
Kunkle, Brian W
Reiman, Eric M
Proitsi, Petra
Carrell, David
Rosenberg, Roger N
Hakonarson, Hakon
Moebus, Susanne
Boerwinkle, Eric
Beecham, Gary W
Urbano, Maria
Fenoglio, Chiara
Lin, Honghuang
Hampel, Harald
Whitehead, Patrice
Bowen, James D
Corcoran, Chris
Burgess, Jeremy D
Lupton, Michelle K
Smith, Albert V
Yu, Lei
Launer, Lenore J
Burke, James R
Paulson, Henry L
Schmidt, Reinhold
Hiltunen, Mikko
Levy, Daniel
Serpente, Maria
Riemenschneider, Matthias
Leber, Markus
Sacchinelli, Eleonora
McGuinness, Bernadette
White, Cha
AuthorAffiliation 59 National Heart, Lung, and Blood Institute, Bethesda, MD, USA
89 Office of Strategy and Measurement, University of North Texas Health Science Center, Fort Worth, Texas, USA
116 Regional Neurogenetic Centre (CRN), ASP Catanzaro, Lamezia Terme, Italy
113 Arizona Alzheimer’s Consortium, Phoenix, Arizona, USA
23 Taub Institute on Alzheimer’s Disease and the Aging Brain, Department of Neurology, Columbia University, New York, New York, USA
25 Department of Neurology, Columbia University, New York, New York, USA
96 Department of Human Genetics, University of Pittsburgh, Pittsburgh, Pennsylvania, USA
30 German Center for Neurodegenerative Diseases (DZNE), 53127 Bonn, Germany
32 Department of Biostatistics, Boston University School of Public Health, Boston, MA, USA
154 Neurogenetics Laboratory, Division of Neurosciences, Centre for Applied Medical Research, University of Navarra School of Medicine, Pamplona, Spain
49 Neurodegenerative Disease Unit, Department of Basic Medicine, Neuroscience, and Sense
AuthorAffiliation_xml – name: 84 Institute of Molecular Biology and Biochemistry, Medical University Graz, Austria
– name: 24 Gertrude H. Sergievsky Center, Columbia University, New York, New York, USA
– name: 108 Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA
– name: 131 Department of Psychiatry, Charité University Medicine, Berlin, Germany
– name: 143 Division of Clinical Neurosciences, School of Medicine, University of Southampton, Southampton, UK
– name: 112 Neurogenomics Division, Translational Genomics Research Institute, Phoenix, Arizona, USA
– name: 111 Netherlands Consortium on Health Aging and National Genomics Initiative, Leiden, The Netherlands
– name: 155 Department of Neurology, Complejo Asistencial Universitario de Palencia, Spain
– name: 13 Department of Genomics, Life & Brain Center, University of Bonn, 53127, Bonn, Germany
– name: 150 Memory Research and Resources Center, CMRR of Montpellier, Department of Neurology, Hospital Gui de Chauliac, Montpellier, France
– name: 75 Department of Neurology, Johns Hopkins University, Baltimore, Maryland, USA
– name: 64 Department of Public Health/Geriatrics, Uppsala University, Uppsala, Sweden
– name: 90 Department of Psychiatry, University of Pittsburgh, Pittsburgh, PA
– name: 9 CEA / Institut de Génomique, Centre National de Génotypage, F-91057 Evry, France
– name: 144 Department of Psychiatry, University of Oxford, Oxford, UK
– name: 118 Departments of Psychiatry, Medicine, Family & Community Medicine, South Texas Veterans Health Administration Geriatric Research Education & Clinical Center (GRECC), UT Health Science Center at San Antonio, San Antonio, Texas, USA
– name: 83 Department of Neurology, Catholic University of Rome, Rome, Italy
– name: 103 Centre for Public Health, University of Iceland, Reykjavik, Iceland
– name: 137 Department of Medical Sciences, Institute of Biomedicine iBiMED, University of Aveiro, Aveiro, Portugal
– name: 16 Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA
– name: 52 Geriatric Medicine-Memory Unit and Rare Disease Centre, University of Bari Aldo Moro, Bari, Italy
– name: 132 NEUROFARBA (Department of Neuroscience, Psychology, Drug Research and Child Health), University of Florence, Florence, Italy
– name: 15 Framingham Heart Study, Framingham, MA, USA
– name: 22 School of Public Health, Human Genetics Center, University of Texas Health Science Center at Houston, Houston, TX, USA
– name: 55 Department of Neurology, Rouen University Hospital, Rouen, France
– name: 119 Institute for Stroke and Dementia Research, Klinikum der Universität München, Munich, Germany
– name: 87 Department of Neurology, University of Washington, Seattle, WA, USA
– name: 54 Section of Gerontology and Geriatrics, Department of Medicine, University of Perugia, Perugia, Italy
– name: 72 Department of Primary Medical Care, University Medical Centre Hamburg-Eppendorf, 20246 Hamburg, Germany
– name: 33 Faculty of Medicine, University of Iceland, Reykjavik, Iceland
– name: 6 University Lille, U1167 – Excellence Laboratory LabEx DISTALZ, F-59000 Lille
– name: 147 Karolinska Institutet, Department of Neurobiology, Care Sciences and Society, KIADRC, Novum Floor 5, S14186 Stockholm, Sweden
– name: 12 Institute of Human Genetics, University of Bonn, Bonn, Germany
– name: 35 School of Biotechnology, Dublin City University, Dublin 9, Ireland
– name: 21 Division of Medical Genetics, University Hospital and Department of Biomedicine, University of Basel, CH-4058, Basel, Switzerland
– name: 142 Memory Unit, Neurology Department and Sant Pau Biomedical Research Institute, Hospital de la Santa Creu i Sant Pau, Autonomous University Barcelona, Barcelona, Spain
– name: 69 Centre Hospitalier Universitaire de Lille, Epidemiology and Public Health Department, F-59000 Lille, France
– name: 40 Departments of Medicine, Geriatrics, Gerontology and Neurology, University of Mississippi Medical Center, Jackson, MS, USA
– name: 107 Molecular Genetics Lab-Hospital, University of Central Asturias, Oviedo, Spain, 33011 Oviedo, Spain
– name: 45 Department of Geriatric Medicine, Karolinska University Hospital Huddinge, S-14186 Stockholm
– name: 57 IdiPAZ, Instituto de Investigación, Sanitaria la Paz, Spain
– name: 10 Cardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, WA, USA
– name: 153 Memory Research and Resources Center, CMRR de Bordeaux, Bordeaux, France
– name: 135 Institute of Public Health, University of Cambridge, Cambridge, UK
– name: 126 Department of Psychiatry and Behavioral Sciences, University of Washington School of Medicine, Seattle, Washington, USA
– name: 51 Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA
– name: 123 Cambridge Institute for Medical Research, University of Cambridge, UK
– name: 11 Dr. John T. Macdonald Foundation, Department of Human Genetics, University of Miami, Miami, Florida, USA
– name: 146 Florida Alzheimer’s Disease Research Center, Gainesville, FL, USA
– name: 27 Department of Neurology, Kuopio University Hospital, FIN-70211, Kuopio, Finland
– name: 128 PharmaTherapeutics Clinical Research, Pfizer Worldwide Research and Development, Cambridge, Massachusetts, USA
– name: 39 Brown Foundation Institute of Molecular Medicine, The University of Texas Health Sciences Center at Houston, TX, USA
– name: 134 Department of Psychiatry and Psychotherapy, University Hospital, Saarland, Germany
– name: 8 The John P. Hussman Institute for Human Genomics, University of Miami, Miami, Florida, USA
– name: 19 Research Center and Memory Clinic of Fundació ACE, Institut Català de Neurociències Aplicades, Barcelona, Spain
– name: 154 Neurogenetics Laboratory, Division of Neurosciences, Centre for Applied Medical Research, University of Navarra School of Medicine, Pamplona, Spain
– name: 48 Department of Medicine, University of Washington, Seattle, Washington, USA
– name: 159 Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, OH, USA
– name: 68 Laboratory of Epidemiology and Population Sciences, National Institute on Aging, Bethesda, MD, USA
– name: 95 University of Pittsburgh, Alzheimer’s Disease Research Center, Pittsburgh, Pennsylvania, USA
– name: 102 Department of Family Medicine, University of Washington, Seattle, WA, USA
– name: 5 Institut Pasteur de Lille, F-59000 Lille, France
– name: 38 Department of Immunology, Hospital Universitario Dr. Negrin, Las Palmas de Gran Canaria, Spain
– name: 86 Experimental Neuropsychiatry Laboratory, IRCCS Santa Lucia Foundation, Department of Clinical and Behavioural Neurology, Rome, Italy
– name: 23 Taub Institute on Alzheimer’s Disease and the Aging Brain, Department of Neurology, Columbia University, New York, New York, USA
– name: 47 Institute of Genetics, Queens Medical Centre, University of Nottingham, Nottingham, UK
– name: 36 Section of Neuroscience and Clinical Pharmacology, Department of Biomedical Sciences, University of Cagliari, Cagliari, Italy
– name: 41 Centre hospitalier du Rouvray. 76300 Sotteville les Rouen, France
– name: 30 German Center for Neurodegenerative Diseases (DZNE), 53127 Bonn, Germany
– name: 42 Inserm U1079, Rouen University, IRIB, Normandy University, Rouen, France
– name: 141 3rd Department of Neurology, Medical School, Aristotle University of Thessaloniki, Thessaloniki, Greece
– name: 81 Department of Epidemiology, Harvard School of Public Health, Boston, Massachusetts, USA
– name: 99 Department of Neurology, Albert Einstein College of Medicine, New York, New York, USA
– name: 156 Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA
– name: 80 Department of Neurology, Clinical Division of Neurogeriatrics, Medical University Graz, Austria
– name: 151 INSERM U1061, La Colombière Hospital, Montpellier, France
– name: 121 Department of Psychiatry, Mount Sinai School of Medicine, New York, New York, USA
– name: 114 Banner Alzheimer’s Institute, Phoenix, Arizona, USA
– name: 82 Department of Psychiatry, Massachusetts General Hospital/Harvard Medical School, Boston, Massachusetts, USA
– name: 28 Program in Translational NeuroPsychiatric Genomics, Institute for the Neurosciences, Departments of Neurology and Psychiatry, Brigham and Women’s Hospital, Boston, MA
– name: 70 Inserm UMR-S1171, CNR-Maj, F-59000 Lille, France
– name: 34 Institute for Systems Biology, Seattle, WA, USA
– name: 98a Department of Neuroscience, Mount Sinai School of Medicine, New York, New York, USA
– name: 152 Montpellier University, Montpellier, France
– name: 7 Icelandic Heart Association, Kopavogur, Iceland
– name: 3 Department of Biostatistics and Epidemiology/Center for Clinical Epidemiology and Biostatistics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA
– name: 50 Centre for Public Health, School of Medicine, Dentistry and Biomedical Sciences, Queens University, Belfast, UK
– name: 74 Department of Psychiatry and Psychotherapy, University of Cologne, 50937 Cologne, Germany
– name: 78 National Alzheimer’s Coordinating Center, University of Washington, Seattle, Washington, USA
– name: 66 Sorbonne Universités, Université Pierre et Marie Curie, Paris, France
– name: 85 Alzheimer’s Disease and Memory Disorders Center, Baylor College of Medicine, Houston, Texas, USA
– name: 25 Department of Neurology, Columbia University, New York, New York, USA
– name: 88 Department of Epidemiology, University of Washington, Seattle, WA, USA
– name: 94 Department of Surgery, University of Texas Southwestern Medical Center, Dallas, Texas, USA
– name: 46 Aging Reasearch Center, Department of Neurobiology, Care Sciences and Society, Karolinska Institutet and Stockholm University, Stockholm, Sweden
– name: 26 Institute of Biom, University of Eastern Finland, FIN-70211, Kuopio, Finland
– name: 1 Institute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, UK
– name: 113 Arizona Alzheimer’s Consortium, Phoenix, Arizona, USA
– name: 100 Utah State University, Logan, Utah, USA
– name: 67 Institut de la Memoire et de la Maladie d’Alzheimer (IM2A) & Institut du Cerveau et de la Moelle épinière (ICM), Département de Neurologie, Hôpital de la Pitié-Salpêtrière, Paris, France
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  givenname: Joshua C
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  organization: Institute of Human Genetics, University of Bonn, Department of Genomics, Life & Brain Center, University of Bonn
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  givenname: Andreas J
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  fullname: Forstner, Andreas J
  organization: Institute of Human Genetics, University of Bonn, Department of Genomics, Life & Brain Center, University of Bonn
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  givenname: Jennifer A
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  surname: Brody
  fullname: Brody, Jennifer A
  organization: Department of Medicine, Cardiovascular Health Research Unit, University of Washington
– sequence: 50
  givenname: Frank J
  orcidid: 0000-0003-2226-4050
  surname: Wolters
  fullname: Wolters, Frank J
  organization: Department of Epidemiology, Erasmus Medical Center
– sequence: 54
  givenname: Myriam
  surname: Fornage
  fullname: Fornage, Myriam
  organization: Brown Foundation Institute of Molecular Medicine, University of Texas Health Sciences Center at Houston
– sequence: 57
  givenname: Elisa
  surname: Majounie
  fullname: Majounie, Elisa
  organization: Institute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University
– sequence: 60
  givenname: David
  surname: Wallon
  fullname: Wallon, David
  organization: Centre Hospitalier du Rouvray, Sotteville les, INSERM U1079, Rouen University, IRIB, Normandy University
– sequence: 61
  givenname: Michelle K
  orcidid: 0000-0002-7274-7299
  surname: Lupton
  fullname: Lupton, Michelle K
  organization: Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, King's College London, Genetic Epidemiology, QIMR Berghofer Medical Research Institute
– sequence: 66
  givenname: Xueqiu
  surname: Jian
  fullname: Jian, Xueqiu
  organization: Brown Foundation Institute of Molecular Medicine, University of Texas Health Sciences Center at Houston
– sequence: 67
  givenname: Shubhabrata
  surname: Mukherjee
  fullname: Mukherjee, Shubhabrata
  organization: Department of Medicine, University of Washington
– sequence: 76
  givenname: Vincenzo
  surname: Solfrizzi
  fullname: Solfrizzi, Vincenzo
  organization: Geriatric Medicine–Memory Unit and Rare Disease Centre, University of Bari Aldo Moro
– sequence: 79
  givenname: Mariet
  surname: Allen
  fullname: Allen, Mariet
  organization: Department of Neuroscience, Mayo Clinic, Jacksonville
– sequence: 82
  givenname: L Adrienne
  surname: Cupples
  fullname: Cupples, L Adrienne
  organization: Framingham Heart Study, Department of Biostatistics, Boston University School of Public Health
– sequence: 89
  givenname: Ina
  surname: Giegling
  fullname: Giegling, Ina
  organization: Department of Psychiatry, Martin Luther University Halle-Wittenberg
– sequence: 91
  givenname: Vilmantas
  orcidid: 0000-0003-3423-2021
  surname: Giedraitis
  fullname: Giedraitis, Vilmantas
  organization: Department of Public Health/Geriatrics, Uppsala University
– sequence: 94
  givenname: Xue
  surname: Wang
  fullname: Wang, Xue
  organization: Department of Neuroscience, Mayo Clinic, Jacksonville
– sequence: 96
  givenname: Patrizia
  surname: Mecocci
  fullname: Mecocci, Patrizia
  organization: Department of Medicine, Section of Gerontology and Geriatrics, University of Perugia
– sequence: 97
  givenname: Gudny
  surname: Eiriksdottir
  fullname: Eiriksdottir, Gudny
  organization: Icelandic Heart Association
– sequence: 107
  givenname: Yuning
  orcidid: 0000-0002-7358-7055
  surname: Chen
  fullname: Chen, Yuning
  organization: Department of Biostatistics, Boston University School of Public Health
– sequence: 123
  givenname: Matthew P
  surname: Frosch
  fullname: Frosch, Matthew P
  organization: C.S. Kubik Laboratory for Neuropathology, Massachusetts General Hospital
– sequence: 127
  givenname: Ryan M
  surname: Huebinger
  fullname: Huebinger, Ryan M
  organization: Department of Surgery, University of Texas Southwestern Medical Center
– sequence: 131
  givenname: John
  surname: Morris
  fullname: Morris, John
  organization: Department of Psychiatry, Washington University School of Medicine, Hope Center Program on Protein Aggregation and Neurodegeneration, Washington University School of Medicine
– sequence: 132
  givenname: Oscar
  surname: Sotolongo-Grau
  fullname: Sotolongo-Grau, Oscar
  organization: Research Center and Memory Clinic of Fundació ACE, Institut Català de Neurociències Aplicades
– sequence: 133
  givenname: Mindy J
  surname: Katz
  fullname: Katz, Mindy J
  organization: Department of Neurology, Albert Einstein College of Medicine
– sequence: 136
  givenname: Amy
  surname: Braddel
  fullname: Braddel, Amy
  organization: Institute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University
– sequence: 141
  givenname: Jade
  surname: Chapman
  fullname: Chapman, Jade
  organization: Institute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University
– sequence: 144
  givenname: Matt
  surname: Hill
  fullname: Hill, Matt
  organization: Institute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University
– sequence: 147
  givenname: Bruno
  surname: Vellas
  fullname: Vellas, Bruno
  organization: INSERM U558, University of Toulouse
– sequence: 148
  givenname: Hilkka
  surname: Soininen
  fullname: Soininen, Hilkka
  organization: Department of Neurology, Kuopio University Hospital
– sequence: 153
  givenname: Joseph T
  surname: Hughes
  fullname: Hughes, Joseph T
  organization: Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, King's College London
– sequence: 165
  givenname: Manuel
  surname: Mayhaus
  fullname: Mayhaus, Manuel
  organization: Department of Psychiatry and Psychotherapy, University Hospital
– sequence: 173
  givenname: Raffaele Giovanni
  surname: Maletta
  fullname: Maletta, Raffaele Giovanni
  organization: Regional Neurogenetic Centre (CRN), ASP Catanzaro
– sequence: 174
  givenname: David
  surname: Carrell
  fullname: Carrell, David
  organization: Department of Psychiatry and Behavioral Sciences, University of Washington School of Medicine
– sequence: 178
  givenname: Alberto
  surname: Pilotto
  fullname: Pilotto, Alberto
  organization: Department of Medical Sciences, Geriatric Unit and Gerontology–Geriatrics Research Laboratory, IRCCS Casa Sollievo della Sofferenza
– sequence: 187
  givenname: Nick C
  surname: Fox
  fullname: Fox, Nick C
  organization: Department of Molecular Neuroscience, UCL, Institute of Neurology
– sequence: 192
  givenname: Steven E
  surname: Arnold
  fullname: Arnold, Steven E
  organization: Department of Psychiatry, University of Pennsylvania Perelman School of Medicine
– sequence: 199
  givenname: James T
  surname: Becker
  fullname: Becker, James T
  organization: Departments of Psychiatry, Neurology, and Psychology, University of Pittsburgh School of Medicine
– sequence: 205
  givenname: James R
  surname: Burke
  fullname: Burke, James R
  organization: Department of Medicine, Duke University
– sequence: 211
  givenname: Cynthia M
  surname: Carlsson
  fullname: Carlsson, Cynthia M
  organization: Department of Medicine, University of Wisconsin, Wisconsin Alzheimer's Disease Research Center
– sequence: 217
  givenname: David G
  surname: Clark
  fullname: Clark, David G
  organization: Department of Neurology, Medical University of South Carolina, Department of Neurology, Ralph H. Johnson VA Medical Center
– sequence: 218
  givenname: David H
  surname: Cribbs
  fullname: Cribbs, David H
  organization: Department of Neurology, University of California, Irvine
– sequence: 222
  givenname: Ranjan
  surname: Duara
  fullname: Duara, Ranjan
  organization: Wien Center for Alzheimer's Disease and Memory Disorders, Mount Sinai Medical Center
– sequence: 223
  givenname: Denis A
  surname: Evans
  fullname: Evans, Denis A
  organization: Department of Internal Medicine, Rush Institute for Healthy Aging, Rush University Medical Center
– sequence: 225
  givenname: Kenneth B
  surname: Fallon
  fullname: Fallon, Kenneth B
  organization: Department of Pathology, University of Alabama at Birmingham
– sequence: 227
  givenname: Martin R
  surname: Farlow
  fullname: Farlow, Martin R
  organization: Department of Neurology, Indiana University
– sequence: 229
  givenname: Tatiana M
  surname: Foroud
  fullname: Foroud, Tatiana M
  organization: Department of Medical and Molecular Genetics, Indiana University
– sequence: 230
  givenname: Douglas R
  surname: Galasko
  fullname: Galasko, Douglas R
  organization: Department of Neurosciences, University of California
– sequence: 245
  givenname: Lee-Way
  surname: Jin
  fullname: Jin, Lee-Way
  organization: Department of Pathology and Laboratory Medicine, University of California, Davis
– sequence: 253
  givenname: James J
  surname: Lah
  fullname: Lah, James J
  organization: Department of Neurology, Emory University
– sequence: 255
  givenname: Allan I
  surname: Levey
  fullname: Levey, Allan I
  organization: Department of Neurology, Emory University
– sequence: 257
  givenname: Andrew P
  surname: Lieberman
  fullname: Lieberman, Andrew P
  organization: Department of Pathology, University of Michigan
– sequence: 267
  givenname: Ann C
  surname: McKee
  fullname: McKee, Ann C
  organization: Department of Neurology, Boston University, Department of Pathology, Boston University
– sequence: 272
  givenname: John C
  surname: Morris
  fullname: Morris, John C
  organization: Department of Pathology and Immunology, Washington University, Department of Neurology, Washington University
– sequence: 279
  givenname: Henry L
  surname: Paulson
  fullname: Paulson, Henry L
  organization: Department of Neurology, University of Michigan, Michigan Alzheimer Disease Center
– sequence: 281
  givenname: Elaine
  surname: Peskind
  fullname: Peskind, Elaine
  organization: Department of Psychiatry and Behavioral Sciences, University of Washington School of Medicine
– sequence: 285
  givenname: Joseph F
  surname: Quinn
  fullname: Quinn, Joseph F
  organization: Department of Neurology, Oregon Health & Science University, Department of Neurology, Portland Veterans Affairs Medical Center
– sequence: 287
  givenname: Murray
  surname: Raskind
  fullname: Raskind, Murray
  organization: Department of Psychiatry and Behavioral Sciences, University of Washington School of Medicine
– sequence: 302
  givenname: Salvatore
  surname: Spina
  fullname: Spina, Salvatore
  organization: Department of Pathology and Laboratory Medicine, Indiana University
– sequence: 304
  givenname: Russell H
  surname: Swerdlow
  fullname: Swerdlow, Russell H
  organization: University of Kansas Alzheimer's Disease Center, University of Kansas Medical Center
– sequence: 310
  givenname: Linda J
  surname: Van Eldik
  fullname: Van Eldik, Linda J
  organization: Department of Anatomy and Neurobiology, Sanders-Brown Center on Aging, University of Kentucky
– sequence: 311
  givenname: Harry V
  surname: Vinters
  fullname: Vinters, Harry V
  organization: Department of Neurology, University of California, Los Angeles, Department of Pathology and Laboratory Medicine, University of California, Los Angeles
– sequence: 312
  givenname: Jean Paul
  surname: Vonsattel
  fullname: Vonsattel, Jean Paul
  organization: Department of Pathology, Taub Institute on Alzheimer's Disease and the Aging Brain, Columbia University
– sequence: 327
  givenname: Peter P
  surname: De Deyn
  fullname: De Deyn, Peter P
  organization: Institute Born-Bunge, University of Antwerp, Department of Neurology and Memory Clinic, Hospital Network Antwerp
– sequence: 336
  givenname: Letizia
  surname: Concari
  fullname: Concari, Letizia
  organization: Department of Neuroscience, University of Parma, Center for Cognitive Disorders AUSL
– sequence: 344
  givenname: Alexis
  surname: Brice
  fullname: Brice, Alexis
  organization: INSERM U1127, CNRS UMR 7225, Sorbonne Universités, UPMC Université Paris 06, UMRS 1127, Institut du Cerveau et de la Moelle Épinière, Department of Genetics, AP–HP, Pitié-Salpêtrière Hospital
– sequence: 346
  givenname: Bruno
  surname: Dubois
  fullname: Dubois, Bruno
  organization: Département de Neurologie, Institut de la Mémoire et de la Maladie d'Alzheimer (IM2A), Hôpital de la Pitié-Salpêtrière, AP–HP, Institut des Neurosciences Translationnelles de Paris (IHU-A-ICM), Institut du Cerveau et de la Moelle Épinière (ICM), INSERM, CNRS, UMRS 975, Institut du Cerveau et de la Moelle Épinière (ICM), Sorbonne Universités, Université Pierre et Marie Curie, Hôpital de la Pitié-Salpêtrière, AP–HP
– sequence: 349
  givenname: JoAnn
  surname: Tschanz
  fullname: Tschanz, JoAnn
  organization: Department of Mathematics and Statistics, Utah State University
– sequence: 350
  givenname: Annette L
  surname: Fitzpatrick
  fullname: Fitzpatrick, Annette L
  organization: Department of Epidemiology, University of Washington, Department of Family Medicine, University of Washington
– sequence: 351
  givenname: Walter A
  surname: Kukull
  fullname: Kukull, Walter A
  organization: Department of Epidemiology, University of Washington
– sequence: 358
  givenname: María J
  orcidid: 0000-0002-6477-1117
  surname: Bullido
  fullname: Bullido, María J
  organization: Instituto de Investigación Sanitaria Hospital la Paz (IdiPAZ), Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III, Centro de Biología Molecular Severo Ochoa (CSIC-UAM)
– sequence: 361
  givenname: Eliecer
  surname: Coto
  fullname: Coto, Eliecer
  organization: Molecular Genetics Laboratory-Hospital, University of Central Asturias
– sequence: 366
  givenname: Eric M
  surname: Reiman
  fullname: Reiman, Eric M
  organization: Neurogenomics Division, Translational Genomics Research Institute, Arizona Alzheimer's Consortium, Banner Alzheimer's Institute, Department of Psychiatry, University of Arizona
– sequence: 367
  givenname: Maura
  surname: Gallo
  fullname: Gallo, Maura
  organization: Regional Neurogenetic Centre (CRN), ASP Catanzaro
– sequence: 376
  givenname: Elio
  surname: Scarpini
  fullname: Scarpini, Elio
  organization: Department of Pathophysiology and Transplantation, University of Milan, Fondazione Ca' Granda, IRCCS Ospedale Policlinico
– sequence: 377
  givenname: Debby W
  surname: Tsuang
  fullname: Tsuang, Debby W
  organization: Department of Psychiatry and Behavioral Sciences, University of Washington School of Medicine, VA Puget Sound Health Care System/GRECC
– sequence: 379
  givenname: Ubaldo
  surname: Bonuccelli
  fullname: Bonuccelli, Ubaldo
  organization: Department of Experimental and Clinical Medicine, Neurological Institute, University of Pisa
– sequence: 389
  givenname: David C
  orcidid: 0000-0001-5002-5263
  surname: Rubinsztein
  fullname: Rubinsztein, David C
  organization: Cambridge Institute for Medical Research, University of Cambridge
– sequence: 390
  givenname: Jose
  surname: Bras
  fullname: Bras, Jose
  organization: Department of Molecular Neuroscience, UCL, Institute of Neurology, Department of Medical Sciences, Institute of Biomedicine (iBiMED), University of Aveiro
– sequence: 391
  givenname: Rita
  surname: Guerreiro
  fullname: Guerreiro, Rita
  organization: Department of Molecular Neuroscience, UCL, Institute of Neurology, Department of Medical Sciences, Institute of Biomedicine (iBiMED), University of Aveiro
– sequence: 399
  givenname: Simon
  surname: Lovestone
  fullname: Lovestone, Simon
  organization: Department of Psychiatry, University of Oxford
– sequence: 401
  givenname: Michael J
  surname: Owen
  fullname: Owen, Michael J
  organization: Institute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University
– sequence: 407
  givenname: Carlos
  surname: Cruchaga
  fullname: Cruchaga, Carlos
  organization: Department of Psychiatry, Washington University School of Medicine, Hope Center Program on Protein Aggregation and Neurodegeneration, Washington University School of Medicine
– sequence: 410
  givenname: John
  surname: Powell
  fullname: Powell, John
  organization: Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, King's College London
– sequence: 413
  givenname: Philip L
  orcidid: 0000-0002-8057-2505
  surname: De Jager
  fullname: De Jager, Philip L
  organization: Department of Neurology, Center for Translational and Systems Neuroimmunology, Columbia University Medical Center
– sequence: 422
  givenname: Dan
  surname: Rujescu
  fullname: Rujescu, Dan
  organization: Department of Psychiatry, Martin Luther University Halle-Wittenberg
– sequence: 426
  givenname: Sara
  surname: Ortega-Cubero
  fullname: Ortega-Cubero, Sara
  organization: Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III, Division of Neurosciences, Neurogenetics Laboratory, Centre for Applied Medical Research, University of Navarra School of Medicine, Department of Neurology, Complejo Asistencial Universitario de Palencia
– sequence: 433
  givenname: M Arfan
  orcidid: 0000-0003-0372-8585
  surname: Ikram
  fullname: Ikram, M Arfan
  organization: Department of Epidemiology, Erasmus Medical Center, Department of Neurology, Erasmus MC University Medical Center
– sequence: 439
  givenname: Richard
  surname: Mayeux
  fullname: Mayeux, Richard
  organization: Department of Neurology, Taub Institute on Alzheimer's Disease and the Aging Brain, Columbia University, Gertrude H. Sergievsky Center, Columbia University, Department of Neurology, Columbia University
– sequence: 440
  givenname: Jean-François
  surname: Deleuze
  fullname: Deleuze, Jean-François
  organization: CEA/Institut de Génomique, Centre National de Génotypage
– sequence: 441
  givenname: Najaf
  surname: Amin
  fullname: Amin, Najaf
  organization: Department of Epidemiology, Erasmus Medical Center
– sequence: 444
  givenname: Philippe
  orcidid: 0000-0001-9088-234X
  surname: Amouyel
  fullname: Amouyel, Philippe
  organization: INSERM, U1167, RID-AGE–Risk Factors and Molecular Determinants of Aging-Related Diseases, Institut Pasteur de Lille, University Lille, U1167–Excellence Laboratory LabEx DISTALZ, Epidemiology and Public Health Department, Centre Hospitalier Universitaire de Lille
– sequence: 445
  givenname: Cornelia M
  surname: van Duijn
  fullname: van Duijn, Cornelia M
  organization: Department of Epidemiology, Erasmus Medical Center
BackLink https://www.ncbi.nlm.nih.gov/pubmed/28714976$$D View this record in MEDLINE/PubMed
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https://urn.kb.se/resolve?urn=urn:nbn:se:su:diva-147014$$DView record from Swedish Publication Index
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SSID ssj0014408
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Snippet Sven van der Lee, Julie Williams, Gerard Schellenberg and colleagues identify rare coding variants in PLCG2 , ABI3 and TREM2 associated with Alzheimer's...
We identified rare coding variants associated with Alzheimer's disease in a three-stage case-control study of 85,133 subjects. In stage 1, we genotyped 34,174...
We identified rare coding variants associated with Alzheimer’s disease (AD) in a 3-stage case-control study of 85,133 subjects. In stage 1, 34,174 samples were...
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StartPage 1373
SubjectTerms 45/43
631/208/205/2138
692/699/375/365/1283
Adaptor Proteins, Signal Transducing - genetics
Agriculture
Alzheimer Disease - genetics
Alzheimer's disease
Amino Acid Sequence
Animal Genetics and Genomics
Bioinformatics
Biomedicine
Cancer Research
Case-Control Studies
Consortia
Development and progression
Disease control
DNA methylation
DNA microarrays
Exome - genetics
Gene Expression Profiling
Gene Frequency
Gene Function
Genes
Genetic aspects
Genetic Predisposition to Disease - genetics
Genetic variation
Genomes
Genomics
Genotype
Genotypes
Genotyping
Human Genetics
Humans
Immune response
Immune system
Immunity
Immunity (Disease)
Immunity, Innate - genetics
Innate immunity
letter
Life Sciences
Linkage Disequilibrium
Membrane Glycoproteins - genetics
Microglia
Microglia - metabolism
Neurodegenerative diseases
Neurons and Cognition
Odds Ratio
Phospholipase C gamma - genetics
Physiological aspects
Polymorphism, Single Nucleotide
Protein interaction
Protein Interaction Maps - genetics
Proteins
Receptors, Immunologic - genetics
Sequence Homology, Amino Acid
Studies
Title Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease
URI https://link.springer.com/article/10.1038/ng.3916
https://www.ncbi.nlm.nih.gov/pubmed/28714976
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https://www.proquest.com/docview/1920194524
https://inserm.hal.science/inserm-02466466
https://pubmed.ncbi.nlm.nih.gov/PMC5669039
https://urn.kb.se/resolve?urn=urn:nbn:se:su:diva-147014
https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-334927
http://kipublications.ki.se/Default.aspx?queryparsed=id:136541668
Volume 49
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