Gene Expression Imputation Across Multiple Tissue Types Provides Insight Into the Genetic Architecture of Frontotemporal Dementia and Its Clinical Subtypes

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To identify genes with predicted expression levels associated with FTD, we integrated summary statistics with external reference gene expression data using a transcriptome-wide association study approach. Methods: FUSION software was used to leverage FTD summary statistics (all FTD: n&nbsp;= 2154 cases, n&nbsp;= 4308 controls; behavioral variant FTD: n&nbsp;= 1337 cases, n&nbsp;= 2754 controls; semantic dementia: n&nbsp;= 308 cases, n&nbsp;= 616 controls; progressive nonfluent aphasia: n&nbsp;= 269 cases, n&nbsp;= 538 controls; FTD with motor neuron disease: n&nbsp;= 200 cases, n&nbsp;= 400 controls) from the International FTD-Genomics Consortium with 53 expression quantitative loci tissue type panels (n&nbsp;= 12,205; 5 consortia). Significance was assessed using a 5% false discovery rate threshold. Results: We identified 73 significant gene-tissue associations for FTD, representing 44 unique genes in 34 tissue types. Most significant findings were derived from dorsolateral prefrontal cortex splicing data (n&nbsp;= 19 genes, 26%). The 17q21.31 inversion locus contained 23 significant associations, representing 6 unique genes. Other top hits included SEC22B (a gene involved in vesicle trafficking), TRGV5, and ZNF302. A single gene finding (RAB38) was observed for behavioral variant FTD. For other clinical subtypes, no significant associations were observed. Conclusions: We identified novel candidate genes (e.g., SEC22B) and previously reported risk regions (e.g., 17q21.31) for FTD. Most significant associations were observed in dorsolateral prefrontal cortex splicing data despite the modest sample size of this reference panel. This suggests that our findings are specific to FTD and are likely to be biologically relevant highlights of genes at different FTD risk loci that are contributing to the disease pathology." /> <meta name="DC.subject" content="17q21.31 inversion region" /> <meta name="DC.subject" content="Dorsolateral prefrontal cortex" /> <meta name="DC.subject" content="Expression quantitative trait loci (eQTL)" /> <meta name="DC.subject" content="Frontotemporal dementia" /> <meta name="DC.subject" content="SEC22B" /> <meta name="DC.subject" content="Transcriptome-wide association study" /> <meta name="DC.contributor" content="I.M.T. (Istituzioni, Mercati, Tecnologie) Alti Studi" xml:lang="*" /> <meta name="DC.contributor" content="760" xml:lang="*" /> <meta name="DC.subject" content="17q21.31 inversion region" xml:lang="*" /> <meta name="DC.subject" content="Dorsolateral prefrontal cortex" xml:lang="*" /> <meta name="DC.subject" content="Expression quantitative trait loci (eQTL)" xml:lang="*" /> <meta name="DC.subject" content="Frontotemporal dementia" xml:lang="*" /> <meta name="DC.subject" content="SEC22B" xml:lang="*" /> <meta name="DC.subject" content="Transcriptome-wide association study" xml:lang="*" /> <meta name="DC.date" content="2024/11/07 00:51:11" xml:lang="*" scheme="DCTERMS.W3CDTF" /> <meta name="DC.date" content="1730937071034" xml:lang="*" scheme="DCTERMS.W3CDTF" /> <meta name="DC.contributor" content="AREA MIN. 05 - Scienze biologiche" xml:lang="*" /> <meta name="DC.description" content="Reus, Lianne M.; Pasaniuc, Bogdan; Posthuma, Danielle; Boltz, Toni; Pijnenburg, Yolande A.L.; Ophoff, Roel A.; Ferrari, Raffaele; Hernandez, Dena G.; Nalls, Michael A.; Rohrer, Jonathan D.; Ramasamy, Adaikalavan; Kwok, John B.J.; Dobson-Stone, Carol; Brooks, William S.; Schofield, Peter R.; Halliday, Glenda M.; Hodges, John R.; Piguet, Olivier; Bartley, Lauren; Thompson, Elizabeth; Hern谩ndez, Isabel; Ruiz, Agust铆n; Boada, Merc猫; Borroni, Barbara; Padovani, Alessandro; Cruchaga, Carlos; Cairns, Nigel J.; Benussi, Luisa; Binetti, Giuliano; Ghidoni, Roberta; Forloni, Gianluigi; Galimberti, Daniela; Fenoglio, Chiara; Serpente, Maria; Scarpini, Elio; Clarim贸n, Jordi; Lle贸, Alberto; Blesa, Rafael; Wald枚, Maria Landqvist; Nilsson, Karin; Nilsson, Christer; Mackenzie, Ian R.A.; Hsiung, Ging-Yuek R.; Mann, David M.A.; Grafman, Jordan; Morris, Christopher M.; Attems, Johannes; Griffiths, Timothy D.; McKeith, Ian G.; Thomas, Alan J.; Pietrini, Pietro; Huey, Edward D.; Wassermann, Eric M.; Baborie, Atik; Jaros, Evelyn; Tierney, Michael C.; Pastor, Pau; Razquin, Cristina; Ortega-Cubero, Sara; Alonso, Elena; Perneczky, Robert; Diehl-Schmid, Janine; Alexopoulos, Panagiotis; Kurz, Alexander; Rainero, Innocenzo; Rubino, Elisa; Pinessi, Lorenzo; Rogaeva, Ekaterina; St. George-Hyslop, Peter; Rossi, Giacomina; Tagliavini, Fabrizio; Giaccone, Giorgio; Rowe, James B.; Schlachetzki, Johannes C.M.; Uphill, James; Collinge, John; Mead, Simon; Danek, Adrian; Van Deerlin, Vivianna M.; Grossman, Murray; Trojanowski, John Q.; van der Zee, Julie; Van Broeckhoven, Christine; Cappa, Stefano F.; Le Ber, Isabelle; Hannequin, Didier; Golfier, V茅ronique; Vercelletto, Martine; Brice, Alexis; Nacmias, Benedetta; Sorbi, Sandro; Bagnoli, Silvia; Piaceri, Irene; Nielsen, J酶rgen E.; Hjermind, Lena E.; Riemenschneider, Matthias; Mayhaus, Manuel; Ibach, Bernd; Gasparoni, Gilles; Pichler, Sabrina; Gu, Wei; Rossor, Martin N.; Fox, Nick C.; Warren, Jason D.; Spillantini, Maria Grazia; Morris, Huw R.; Rizzu, Patrizia; Heutink, Peter; Snowden, Julie S.; Rollinson, Sara; Richardson, Anna; Gerhard, Alexander; Bruni, Amalia C.; Maletta, Raffaele; Frangipane, Francesca; Cupidi, Chiara; Bernardi, Livia; Anfossi, Maria; Gallo, Maura; Conidi, Maria Elena; Smirne, Nicoletta; Rademakers, Rosa; Baker, Matt; Dickson, Dennis W.; Graff-Radford, Neill R.; Petersen, Ronald C.; Knopman, David; Josephs, Keith A.; Boeve, Bradley F.; Parisi, Joseph E.; Seeley, William W.; Miller, Bruce L.; Karydas, Anna M.; Rosen, Howard; van Swieten, John C.; Dopper, Elise G.P.; Seelaar, Harro; Pijnenburg, Yolande A.L.; Scheltens, Philip; Logroscino, Giancarlo; Capozzo, Rosa; Novelli, Valeria; Puca, Annibale A.; Franceschi, Massimo; Postiglione, Alfredo; Milan, Graziella; Sorrentino, Paolo; Kristiansen, Mark; Chiang, Huei-Hsin; Graff, Caroline; Pasquier, Florence; Rollin, Adeline; Deramecourt, Vincent; Lebert, Florence; Kapogiannis, Dimitrios; Ferrucci, Luigi; Pickering-Brown, Stuart; Singleton, Andrew B.; Hardy, John; Momeni, Parastoo" xml:lang="en" /> <meta name="DC.description" content="Reus, Lianne M.; Pasaniuc, Bogdan; Posthuma, Danielle; Boltz, Toni; Pijnenburg, Yolande A. L.; Ophoff, Roel A.; Ferrari, Raffaele; Hernandez, Dena G.; Nalls, Michael A.; Rohrer, Jonathan D.; Ramasamy, Adaikalavan; Kwok, John B. J.; Dobson-Stone, Carol; Brooks, William S.; Schofield, Peter R.; Halliday, Glenda M.; Hodges, John R.; Piguet, Olivier; Bartley, Lauren; Thompson, Elizabeth; Hern谩ndez, Isabel; Ruiz, Agust铆n; Boada, Merc猫; Borroni, Barbara; Padovani, Alessandro; Cruchaga, Carlos; Cairns, Nigel J.; Benussi, Luisa; Binetti, Giuliano; Ghidoni, Roberta; Forloni, Gianluigi; Galimberti, Daniela; Fenoglio, Chiara; Serpente, Maria; Scarpini, Elio; Clarim贸n, Jordi; Lle贸, Alberto; Blesa, Rafael; Wald枚, Maria Landqvist; Nilsson, Karin; Nilsson, Christer; Mackenzie, Ian R. A.; Hsiung, Ging-Yuek R.; Mann, David M. A.; Grafman, Jordan; Morris, Christopher M.; Attems, Johannes; Griffiths, Timothy D.; Mckeith, Ian G.; Thomas, Alan J.; Pietrini, Pietro; Huey, Edward D.; Wassermann, Eric M.; Baborie, Atik; Jaros, Evelyn; Tierney, Michael C.; Pastor, Pau; Razquin, Cristina; Ortega-Cubero, Sara; Alonso, Elena; Perneczky, Robert; Diehl-Schmid, Janine; Alexopoulos, Panagiotis; Kurz, Alexander; Rainero, Innocenzo; Rubino, Elisa; Pinessi, Lorenzo; Rogaeva, Ekaterina; St. George-Hyslop, Peter; Rossi, Giacomina; Tagliavini, Fabrizio; Giaccone, Giorgio; Rowe, James B.; Schlachetzki, Johannes C. 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P.; Seelaar, Harro; Pijnenburg, Yolande A. L.; Scheltens, Philip; Logroscino, Giancarlo; Capozzo, Rosa; Novelli, Valeria; Puca, Annibale A.; Franceschi, Massimo; Postiglione, Alfredo; Milan, Graziella; Sorrentino, Paolo; Kristiansen, Mark; Chiang, Huei-Hsin; Graff, Caroline; Pasquier, Florence; Rollin, Adeline; Deramecourt, Vincent; Lebert, Florence; Kapogiannis, Dimitrios; Ferrucci, Luigi; Pickering-Brown, Stuart; Singleton, Andrew B.; Hardy, John; Momeni, Parastoo" /> <meta name="citation_title" content="Gene Expression Imputation Across Multiple Tissue Types Provides Insight Into the Genetic Architecture of Frontotemporal Dementia and Its Clinical Subtypes" /> <meta name="citation_author" content="Reus, Lianne M." /> <meta name="citation_author" content="Pasaniuc, Bogdan" /> <meta name="citation_author" content="Posthuma, Danielle" /> <meta name="citation_author" content="Boltz, Toni" /> <meta name="citation_author" content="Pijnenburg, Yolande A. 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Dorsolateral prefrontal cortex; Expression quantitative trait loci (eQTL); Frontotemporal dementia; SEC22B; Transcriptome-wide association study" /> <script type="text/javascript"> $(document).on('click', '.c-bn', function() { location.reload(); }); </script> </head> <body class="body-default body-anonymous"> <header class="navbar navbar-expand-md navbar-dark sticky-top layout-top bg-primary iu-hide"> <nav class="container-fluid flex-wrap flex-md-nowrap" aria-label="menu top"> <a class="navbar-brand ps-0 pt-0 pb-0 pe-3" href="https://iris.imtlucca.it/" aria-label="link homepage" id="uiLogoLink"> <img src="/sr/logo_iris.png" alt="IRIS" id="uiLogoImg" class="d-block my-1 navbar-brand-img"/> </a> <a class="navbar-brand ps-3 pt-0 pb-0 pe-3 me-3" href="" aria-label="link homepage universit脿" id="customerLogoLink"> <img src="/sr/logo_customer.png" alt="IRIS" id="clientLogoImg" class="d-block my-1 navbar-brand-img"/> </a> <button class="navbar-toggler" type="button" data-bs-toggle="collapse" data-bs-target="#navbarSupportedContent" aria-controls="navbarSupportedContent" aria-expanded="false" aria-label="mostra/nascondi menu"> <span class="fas fa-bars"></span> </button> <div class="collapse navbar-collapse" id="navbarSupportedContent"> <ul class="navbar-nav flex-row flex-wrap pt-2 py-md-0"> </ul> <ul class="navbar-nav flex-row flex-wrap ms-md-auto"> <li class="nav-item col-6 col-md-auto " id="topNavHome"> <a class="nav-link p-2" href="https://iris.imtlucca.it/">Home</a> </li> <li class="nav-item col-6 col-md-auto dropdown"> <a class="nav-link p-2 dropdown-toggle" href="#" id="navbarDropdownBrowse" role="button" data-bs-toggle="dropdown" aria-haspopup="true" aria-expanded="false"> Sfoglia</a> <div class="dropdown-menu" aria-labelledby="navbarDropdownBrowse"> <a class="dropdown-item" href="https://iris.imtlucca.it/community-list">Macrotipologie<br/>& tipologie</a> <div class="dropdown-divider"></div> <a class="dropdown-item" href="https://iris.imtlucca.it/browse?type=author">Autore</a> <a class="dropdown-item" href="https://iris.imtlucca.it/browse?type=title">Titolo</a> <a class="dropdown-item" href="https://iris.imtlucca.it/browse?type=relationJournal">Riviste</a> <a class="dropdown-item" href="https://iris.imtlucca.it/browse?type=relationSerie">Serie</a> </div> </li> </ul> <form class="navbar-search-top d-flex" action="https://iris.imtlucca.it/simple-search" method="get" role="search"> <div class="input-group p-2"> <input class="form-control bg-primary layout-top-input" type="search" placeholder="Search IRIS" name="query" id="tequery" size="25" aria-label="Search IRIS"> <button class="btn btn-primary layout-top-input-btn" type="submit"><span class="fas fa-search"></span></button> </div> </form> <ul class="navbar-nav flex-row flex-wrap"> <li class="nav-item col-6 col-md-auto dropdown"> <a class="nav-link p-2 dropdown-toggle" href="#" id="navbarDropdownLanguage" role="button" data-bs-toggle="dropdown" aria-haspopup="true" aria-expanded="false"> IT</a> <div class="dropdown-menu dropdown-menu-end" aria-labelledby="navbarDropdownLanguage"> <a class="dropdown-item" href="javascript:reloadLanguageModuleAll('https://iris.imtlucca.it',['bi','rm','gw','ma','','saiku','ap'],'/language/change.json','it');" ><img src="/sr/cineca/images/flag/flag_it.png" alt="Italiano" title=""/> Italiano</a> <a class="dropdown-item" href="javascript:reloadLanguageModuleAll('https://iris.imtlucca.it',['bi','rm','gw','ma','','saiku','ap'],'/language/change.json','en');" ><img src="/sr/cineca/images/flag/flag_en.png" alt="English" title="English"/> English</a> </div> </li> <li class="nav-item col-6 col-md-auto "> <script type="text/javascript">  </script><noscript><a href="https://wiki.u-gov.it/confluence/x/HJEWAw" target="dspacepopup"><span class="fas fa-question-circle" title="Aiuto"></span></a></noscript> </li> <li class="nav-item col-6 col-md-auto dropdown"><a class="nav-link p-2" href="https://iris.imtlucca.it/securityLanding.htm">LOGIN</a></li> </ul> </div> </nav> </header> <div class="site-header iu-hide bg-secondary text-white"> <div class="site-title CinecaSiteIntroduction" id="headerText"> <div> IRIS</div> </div> </div> <div class="container-xxl ps-0 pe-0 layout-no-sidebar" id="mainContainerDiv"> <main class="layout-main" id="content"> <div class="container-fluid page-content"> <nav aria-label="breadcrumb" class="mt-2 iu-hide"> <form name="breadCrumbsForm" id="breadCrumbsForm" method="post"> <ol class="breadcrumb rounded"> <li class="breadcrumb-item"><a href="/">IRIS</a></li> <li class="breadcrumb-item"><a href="/handle/123456789/40">Catalogo Ricerca</a></li> <li class="breadcrumb-item"><a href="/handle/123456789/41">1 Contributo su Rivista</a></li> <li class="breadcrumb-item"><a href="/handle/123456789/1">1.1 Articolo in rivista</a></li></ol> </form> </nav> <p class="searchIndexItemDescription abstractEng">Background: The etiology of frontotemporal dementia (FTD) is poorly understood. To identify genes with predicted expression levels associated with FTD, we integrated summary statistics with external reference gene expression data using a transcriptome-wide association study approach. Methods: FUSION software was used to leverage FTD summary statistics (all FTD: n&nbsp;= 2154 cases, n&nbsp;= 4308 controls; behavioral variant FTD: n&nbsp;= 1337 cases, n&nbsp;= 2754 controls; semantic dementia: n&nbsp;= 308 cases, n&nbsp;= 616 controls; progressive nonfluent aphasia: n&nbsp;= 269 cases, n&nbsp;= 538 controls; FTD with motor neuron disease: n&nbsp;= 200 cases, n&nbsp;= 400 controls) from the International FTD-Genomics Consortium with 53 expression quantitative loci tissue type panels (n&nbsp;= 12,205; 5 consortia). Significance was assessed using a 5% false discovery rate threshold. Results: We identified 73 significant gene-tissue associations for FTD, representing 44 unique genes in 34 tissue types. Most significant findings were derived from dorsolateral prefrontal cortex splicing data (n&nbsp;= 19 genes, 26%). The 17q21.31 inversion locus contained 23 significant associations, representing 6 unique genes. Other top hits included SEC22B (a gene involved in vesicle trafficking), TRGV5, and ZNF302. A single gene finding (RAB38) was observed for behavioral variant FTD. For other clinical subtypes, no significant associations were observed. Conclusions: We identified novel candidate genes (e.g., SEC22B) and previously reported risk regions (e.g., 17q21.31) for FTD. Most significant associations were observed in dorsolateral prefrontal cortex splicing data despite the modest sample size of this reference panel. This suggests that our findings are specific to FTD and are likely to be biologically relevant highlights of genes at different FTD risk loci that are contributing to the disease pathology.</p> <div class="row"> <div class="col-lg-12 col-xl-9"> <div class="card"> <div class="card-body"> <div> <h3 class="mb-1 text-secondary">Gene Expression Imputation Across Multiple Tissue Types Provides Insight Into the Genetic Architecture of Frontotemporal Dementia and Its Clinical Subtypes</h3> <h5> <em><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Reus, Lianne M.;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Pasaniuc, Bogdan;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Posthuma, Danielle;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Boltz, Toni;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Pijnenburg, Yolande A. L.;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Ophoff, Roel A.;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Ferrari, Raffaele;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Hernandez, Dena G.;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Nalls, Michael A.;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Rohrer, Jonathan D.;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Ramasamy, Adaikalavan;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Kwok, John B. J.;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Dobson-Stone, Carol;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Brooks, William S.;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Schofield, Peter R.;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Halliday, Glenda M.;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Hodges, John R.;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Piguet, Olivier;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Bartley, Lauren;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Thompson, Elizabeth;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Hern谩ndez, Isabel;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Ruiz, Agust铆n;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Boada, Merc猫;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Borroni, Barbara;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Padovani, Alessandro;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Cruchaga, Carlos;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Cairns, Nigel J.;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Benussi, Luisa;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Binetti, Giuliano;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Ghidoni, Roberta;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Forloni, Gianluigi;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Galimberti, Daniela;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Fenoglio, Chiara;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Serpente, Maria;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Scarpini, Elio;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Clarim贸n, Jordi;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Lle贸, Alberto;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Blesa, Rafael;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Wald枚, Maria Landqvist;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Nilsson, Karin;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Nilsson, Christer;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Mackenzie, Ian R. A.;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Hsiung, Ging-Yuek R.;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Mann, David M. A.;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Grafman, Jordan;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Morris, Christopher M.;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Attems, Johannes;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Griffiths, Timothy D.;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">McKeith, Ian G.;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Thomas, Alan J.;</span><span class="contributor internalContributor internalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1"><a href="/cris/rp/rp01138" class="authority author">Pietrini, Pietro</a>;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Huey, Edward D.;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Wassermann, Eric M.;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Baborie, Atik;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Jaros, Evelyn;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Tierney, Michael C.;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Pastor, Pau;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Razquin, Cristina;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Ortega-Cubero, Sara;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Alonso, Elena;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Perneczky, Robert;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Diehl-Schmid, Janine;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Alexopoulos, Panagiotis;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Kurz, Alexander;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Rainero, Innocenzo;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Rubino, Elisa;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Pinessi, Lorenzo;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Rogaeva, Ekaterina;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">St. George-Hyslop, Peter;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Rossi, Giacomina;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Tagliavini, Fabrizio;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Giaccone, Giorgio;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Rowe, James B.;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Schlachetzki, Johannes C. M.;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Uphill, James;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Collinge, John;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Mead, Simon;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Danek, Adrian;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Van Deerlin, Vivianna M.;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Grossman, Murray;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Trojanowski, John Q.;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">van der Zee, Julie;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Van Broeckhoven, Christine;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Cappa, Stefano F.;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Le Ber, Isabelle;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Hannequin, Didier;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Golfier, V茅ronique;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Vercelletto, Martine;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Brice, Alexis;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Nacmias, Benedetta;</span><span 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externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Riemenschneider, Matthias;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Mayhaus, Manuel;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Ibach, Bernd;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Gasparoni, Gilles;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Pichler, Sabrina;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Gu, Wei;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Rossor, Martin N.;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Fox, Nick C.;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Warren, Jason D.;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Spillantini, Maria Grazia;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Morris, Huw R.;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Rizzu, Patrizia;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Heutink, Peter;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Snowden, Julie S.;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Rollinson, Sara;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Richardson, Anna;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Gerhard, Alexander;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Bruni, Amalia C.;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Maletta, Raffaele;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Frangipane, Francesca;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Cupidi, Chiara;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Bernardi, Livia;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Anfossi, Maria;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Gallo, Maura;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Conidi, Maria Elena;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Smirne, Nicoletta;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Rademakers, Rosa;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Baker, Matt;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Dickson, Dennis W.;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Graff-Radford, Neill R.;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Petersen, Ronald C.;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Knopman, David;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Josephs, Keith A.;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Boeve, Bradley F.;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Parisi, Joseph E.;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Seeley, William W.;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Miller, Bruce L.;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Karydas, Anna M.;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Rosen, Howard;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">van Swieten, John C.;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Dopper, Elise G. P.;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Seelaar, Harro;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Pijnenburg, Yolande A. L.;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Scheltens, Philip;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Logroscino, Giancarlo;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Capozzo, Rosa;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Novelli, Valeria;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Puca, Annibale A.;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Franceschi, Massimo;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Postiglione, Alfredo;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Milan, Graziella;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Sorrentino, Paolo;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Kristiansen, Mark;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Chiang, Huei-Hsin;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Graff, Caroline;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Pasquier, Florence;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Rollin, Adeline;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Deramecourt, Vincent;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Lebert, Florence;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Kapogiannis, Dimitrios;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Ferrucci, Luigi;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Pickering-Brown, Stuart;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Singleton, Andrew B.;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Hardy, John;</span><span class="contributor externalContributor externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471 m-1 disabled" aria-disabled="true" style="display:none;">Momeni, Parastoo</span></em> <span onclick="JQ('.externalContributor5fd49679-660d-484f-a3f1-2b0566ae5471').toggle();JQ('.showExternalText5fd49679-660d-484f-a3f1-2b0566ae5471').toggle();JQ('.hideExternalText5fd49679-660d-484f-a3f1-2b0566ae5471').toggle();" class="btn btn-sm btn-outline-secondary m-1"> <span class="showExternalText5fd49679-660d-484f-a3f1-2b0566ae5471"><span class="fas fa-users" title="mostra contributor esterni"></span></span> <span class="hideExternalText5fd49679-660d-484f-a3f1-2b0566ae5471" style="display:none;"><span class="fas fa-user" title="nascondi contributor esterni"></span></span> </span> </h5> <h5>2021-01-01</h5> <hr/> <h4 class="mb-1">Abstract</h4> Background: The etiology of frontotemporal dementia (FTD) is poorly understood. To identify genes with predicted expression levels associated with FTD, we integrated summary statistics with external reference gene expression data using a transcriptome-wide association study approach. Methods: FUSION software was used to leverage FTD summary statistics (all FTD: n = 2154 cases, n = 4308 controls; behavioral variant FTD: n = 1337 cases, n = 2754 controls; semantic dementia: n = 308 cases, n = 616 controls; progressive nonfluent aphasia: n = 269 cases, n = 538 controls; FTD with motor neuron disease: n = 200 cases, n = 400 controls) from the International FTD-Genomics Consortium with 53 expression quantitative loci tissue type panels (n = 12,205; 5 consortia). Significance was assessed using a 5% false discovery rate threshold. Results: We identified 73 significant gene-tissue associations for FTD, representing 44 unique genes in 34 tissue types. Most significant findings were derived from dorsolateral prefrontal cortex splicing data (n = 19 genes, 26%). The 17q21.31 inversion locus contained 23 significant associations, representing 6 unique genes. Other top hits included SEC22B (a gene involved in vesicle trafficking), TRGV5, and ZNF302. A single gene finding (RAB38) was observed for behavioral variant FTD. For other clinical subtypes, no significant associations were observed. Conclusions: We identified novel candidate genes (e.g., SEC22B) and previously reported risk regions (e.g., 17q21.31) for FTD. Most significant associations were observed in dorsolateral prefrontal cortex splicing data despite the modest sample size of this reference panel. This suggests that our findings are specific to FTD and are likely to be biologically relevant highlights of genes at different FTD risk loci that are contributing to the disease pathology. </div> <div class="dspace-display-item tabbable page-tabs mt-3"> <h5> <ul class="nav nav-tabs border-bottom fw-bold"> <li class="nav-item"><a class="nav-link active" href="#tab_default" onclick="changeItemView('simple');" data-bs-toggle="tab">Scheda breve</a></li> <li class="nav-item"><a class="nav-link " href="#tab_default" onclick="changeItemView('complete');" data-bs-toggle="tab">Scheda completa</a></li> <li class="nav-item"><a class="nav-link " href="#tab_default" onclick="changeItemView('full');" data-bs-toggle="tab">Scheda completa (DC)</a></li> <li class="nav-item"><a class="nav-link" onclick="location.href='/cris/item/20.500.11771/31522/statistics'" data-bs-toggle="tab"><span class="far fa-chart-bar"></span></a></li> </ul> </h5> <div class="tab-content"> <div class="tab-pane active fade show" id="tab_default"> <div class="itemDisplayTable container-fluid g-3"> <div class="line form-group row metadataFieldValue pt-2 pb-2 dc_date_issued" id="dc.date.issued_line" > <div class="line-label col-md-12"><label for="dc.date.issued" class="control-label metadataFieldLabel dc_date_issued"> <span class="line-label-text">Anno</span> </label></div> <div class="line-content col-sm-12" id="dc.date.issued_content"> <em>2021</em> </div> </div> <div class="line form-group row metadataFieldValue pt-2 pb-2 dc_authority_ancejournal" id="dc.authority.ancejournal_line" > <div class="line-label col-md-12"><label for="dc.authority.ancejournal" class="control-label metadataFieldLabel dc_authority_ancejournal"> <span class="line-label-text">Rivista</span> </label></div> <div class="line-content col-sm-12" id="dc.authority.ancejournal_content"> <em><a href="/rm/popup/rmItem/journal/crisId/journal00064/detail.htm" target="_blank" onclick="showPopup('/rm/popup/rmItem/journal/crisId/journal00064/detail.htm'); return false;" class="authority "><span class="me-1">BIOLOGICAL PSYCHIATRY</span></a></em> </div> </div> <div class="line form-group row metadataFieldValue pt-2 pb-2 dc_subject_keywordseng" id="dc.subject.keywordseng_line" > <div class="line-label col-md-12"><label for="dc.subject.keywordseng" class="control-label metadataFieldLabel dc_subject_keywordseng"> <span class="line-label-text">Parole chiave</span> </label></div> <div class="line-content col-sm-12" id="dc.subject.keywordseng_content"> <em>17q21.31 inversion region<br/>Dorsolateral prefrontal cortex<br/>Expression quantitative trait loci (eQTL)<br/>Frontotemporal dementia<br/>SEC22B<br/>Transcriptome-wide association study</em> </div> </div> <div class="line form-group row metadataFieldValue pt-2 pb-2 dspace_collection" id="dspace_collection_line" > <div class="line-label col-md-12"><label for="dspace_collection" class="control-label metadataFieldLabel dspace_collection"> <span class="line-label-text">Appare nelle tipologie:</span> </label></div> <div class="line-content col-sm-12" id="dspace_collection_content"> <a href="/handle/123456789/1">1.1 Articolo in rivista</a> </div> </div> </div> </div> </div> </div></div> </div> <script type="text/x-tmpl" id="tmpLicenseDetail"> <div class="d-flex align-items-center"> {% if (o.licenseImage != null) { %} <div class="flex-shrink-0"> <img src="{%= o.licenseImage %}" /> </div> {% } %} <div class="flex-grow-1 ms-3"> {%# o.licenseName %} </div> </div> </script> <div id="bitstreams" class="card bg-white mt-2"> <div class="card-header">File in questo prodotto:</div> <table class="table card-body"> <tr> <th id="t1" class="standard">File</th> <th id="t3" class="standard d-none d-sm-table-cell">Dimensione</th> <th id="t4" class="standard d-none d-sm-table-cell">Formato</th> <th id="t5" class="standard d-none d-sm-table-cell"> </th> </tr> <tr> <td headers="t1" class="standard break-all"> 1-s2.0-S0006322321000329-main.pdf <p class="badge bg-info">accesso aperto</p> <div class="col-12 mb-2"> Tipologia: Versione Editoriale (PDF) </div> <div class="col-12 mb-2"> Licenza: Creative commons <span id="license_a1e4e418-ab30-4d4d-9cdb-8bd9afd21988"><i class="fa fa-spin fa-spinner"></i></span> <script type="text/javascript"> $(document).ready(function() { if (isThirdPartyCookieEnabled()) { $.ajax({ url: '/creativecommons/license/type/detail.json', data: {license: 'standard', licenseUri: 'http://creativecommons.org/licenses/by/4.0/'}, dataType: "json" }).done(function(data) { $('#license_a1e4e418-ab30-4d4d-9cdb-8bd9afd21988').html(tmpl("tmpLicenseDetail", data)).show(); }); } else { $('#license_a1e4e418-ab30-4d4d-9cdb-8bd9afd21988').html('<span class="fas fa-shield" title="il componente non pu貌 essere visualizzato perch茅 i cookie di terze parti sono stati disabilitati. 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Gene Expression Imputation Across Multiple Tissue Types Provides Insight Into the Genetic Architecture of Frontotemporal Dementia and Its Clinical Subtypes