Genome-wide analyses reveal a potential role for the MAPT, MOBP, and APOE loci in sporadic frontotemporal dementia

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Manzoni, ClaudiaUCL School of Pharmacy (author)

Genome-wide analyses reveal a potential role for the MAPT, MOBP, and APOE loci in sporadic frontotemporal dementia

Article/chapterEnglish2024

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2024
14 s.

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LIBRIS-ID:oai:lup.lub.lu.se:c85863e6-3c3b-4645-80f8-238c58f493f6
https://lup.lub.lu.se/record/c85863e6-3c3b-4645-80f8-238c58f493f6URI
https://doi.org/10.1016/j.ajhg.2024.05.017DOI

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Language:English
Summary in:English

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Subject category:art swepub-publicationtype
Subject category:ref swepub-contenttype

Notes

Frontotemporal dementia (FTD) is the second most common cause of early-onset dementia after Alzheimer disease (AD). Efforts in the field mainly focus on familial forms of disease (fFTDs), while studies of the genetic etiology of sporadic FTD (sFTD) have been less common. In the current work, we analyzed 4,685 sFTD cases and 15,308 controls looking for common genetic determinants for sFTD. We found a cluster of variants at the MAPT (rs199443; p = 2.5 × 10−12, OR = 1.27) and APOE (rs6857; p = 1.31 × 10−12, OR = 1.27) loci and a candidate locus on chromosome 3 (rs1009966; p = 2.41 × 10−8, OR = 1.16) in the intergenic region between RPSA and MOBP, contributing to increased risk for sFTD through effects on expression and/or splicing in brain cortex of functionally relevant in-cis genes at the MAPT and RPSA-MOBP loci. The association with the MAPT (H1c clade) and RPSA-MOBP loci may suggest common genetic pleiotropy across FTD and progressive supranuclear palsy (PSP) (MAPT and RPSA-MOBP loci) and across FTD, AD, Parkinson disease (PD), and cortico-basal degeneration (CBD) (MAPT locus). Our data also suggest population specificity of the risk signals, with MAPT and APOE loci associations mainly driven by Central/Nordic and Mediterranean Europeans, respectively. This study lays the foundations for future work aimed at further characterizing population-specific features of potential FTD-discriminant APOE haplotype(s) and the functional involvement and contribution of the MAPT H1c haplotype and RPSA-MOBP loci to pathogenesis of sporadic forms of FTD in brain cortex.

Subject headings and genre

MEDICIN OCH HÄLSOVETENSKAP Klinisk medicin Neurologi hsv//swe
MEDICAL AND HEALTH SCIENCES Clinical Medicine Neurology hsv//eng

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Kia, Demis A.University College London (author)
Ferrari, RaffaeleUniversity College London (author)
Leonenko, GannaCardiff University (author)
Costa, BeatriceUniversity College London (author)
Saba, ValentinaUniversity of Pavia(Swepub:lu)va2843sa (author)
Jabbari, EdwinUniversity College London (author)
Tan, Manuela MXOslo university hospital,University College London (author)
Albani, DiegoMario Negri Institute for Pharmacological Research (author)
Alvarez, VictoriaInstituto de Investigación Sanitaria del Principado de Asturias (ISPA),Asturias General Hospital (author)
Alvarez, IgnacioFundació Docència i Recerca MútuaTerrassa,Mutua De Terrassa Hospital (author)
Andreassen, Ole A.Oslo university hospital,University of Oslo (author)
Angiolillo, AntonellaUniversity of Molise (author)
Arighi, AndreaMaggiore Hospital Policlinico (author)
Baker, MattMayo Clinic Florida (author)
Benussi, LuisaCentro San Giovanni di Dio Fatebenefratelli (author)
Bessi, ValentinaUniversity of Florence (author)
Binetti, GiulianoCentro San Giovanni di Dio Fatebenefratelli (author)
Blackburn, Daniel J.University of Sheffield (author)
Boada, MerceInternational University of Catalonia,CIBER Enfermedades Neurodegenerativas (CIBERNED) (author)
Boeve, Bradley F.Mayo Clinic Minnesota (author)
Borrego-Ecija, SergiHospital Clínic of Barcelona (author)
Borroni, BarbaraUniversity of Brescia (author)
Bråthen, GeirSt. Olav’s University Hospital,Norwegian University of Science and Technology (author)
Brooks, William S.University of New South Wales (author)
Bruni, Amalia C.Regional Neurogenetic Centre, ASPCZ (author)
Caroppo, PaolaCarlo Besta Neurological Institute, IRCCS (author)
Bandres-Ciga, SaraNational Institute on Aging, United States (author)
Clarimon, JordiAutonomous University of Barcelona (author)
Colao, RosannaRegional Neurogenetic Centre, ASPCZ (author)
Cruchaga, CarlosWashington University in St. Louis (author)
Danek, AdrianUniversity Hospital Munich (author)
de Boer, Sterre CMUniversity of Sydney,Vrije Universiteit Amsterdam (author)
de Rojas, ItziarCIBER Enfermedades Neurodegenerativas (CIBERNED),International University of Catalonia (author)
di Costanzo, AlfonsoUniversity of Molise (author)
Dickson, Dennis W.Mayo Clinic Florida (author)
Diehl-Schmid, JanineInn-Salzach-Klinikum,Klinikum rechts der Isar (author)
Dobson-Stone, CarolUniversity of Sydney (author)
Dols-Icardo, OriolCIBER Enfermedades Neurodegenerativas (CIBERNED),Autonomous University of Barcelona (author)
Donizetti, AldoUniversity of Naples Federico II (author)
Dopper, EliseErasmus University Medical Center (author)
Durante, ElisabettaAzienda ULSS 2 (author)
Ferrari, CamillaUniversity of Florence (author)
Forloni, GianluigiMario Negri Institute for Pharmacological Research (author)
Frangipane, FrancescaRegional Neurogenetic Centre, ASPCZ (author)
Fratiglioni, LauraKarolinska Institute,Karolinska University Hospital (author)
Kramberger, Milica G.Karolinska Institute,University Medical Centre Ljubljana (author)
Galimberti, DanielaMaggiore Hospital Policlinico,University of Milan (author)
Gallucci, MaurizioAzienda ULSS 2 (author)
García-González, PabloCIBER Enfermedades Neurodegenerativas (CIBERNED),International University of Catalonia (author)
Ghidoni, RobertaCentro San Giovanni di Dio Fatebenefratelli (author)
Giaccone, GiorgioCarlo Besta Neurological Institute, IRCCS (author)
Graff, CarolineKarolinska Institute,Karolinska University Hospital (author)
Graff-Radford, Neill R.Mayo Clinic Florida (author)
Grafman, JordanShirley Ryan AbilityLab (author)
Halliday, Glenda M.University of Sydney (author)
Hernandez, Dena G.National Institute on Aging, United States (author)
Hjermind, Lena E.Copenhagen University Hospital (author)
Hodges, John R.University of Sydney (author)
Holloway, GuyUniversity of Edinburgh (author)
Huey, Edward D.Brown University (author)
Illán-Gala, IgnacioCIBER Enfermedades Neurodegenerativas (CIBERNED),Autonomous University of Barcelona (author)
Josephs, Keith A.Mayo Clinic Minnesota (author)
Knopman, David S.Mayo Clinic Minnesota (author)
Kristiansen, MarkZayed Centre for Research into Rare Disease in Children,University College London (author)
Kwok, John B.University of Sydney (author)
Leber, IsabelleAssistance Publique des Hôpitaux de Paris,Paris-Sorbonne University (author)
Leonard, Hampton L.National Institute on Aging, United States,Data Tecnica International LLC,German Center for Neurodegenerative Diseases (DZNE), Bonn (author)
Libri, IleniaUniversity of Brescia (author)
Lleo, AlbertoCIBER Enfermedades Neurodegenerativas (CIBERNED),Autonomous University of Barcelona (author)
Mackenzie, Ian R.Vancouver Coastal Health Research Institute,University of British Columbia (author)
Madhan, Gaganjit K.Zayed Centre for Research into Rare Disease in Children,University College London (author)
Maletta, RaffaeleRegional Neurogenetic Centre, ASPCZ (author)
Marquié, MartaInternational University of Catalonia,CIBER Enfermedades Neurodegenerativas (CIBERNED) (author)
Maver, AlesUniversity Medical Centre Ljubljana (author)
Menendez-Gonzalez, ManuelInstituto de Investigación Sanitaria del Principado de Asturias (ISPA),University of Oviedo,Asturias General Hospital (author)
Milan, GraziellaGeriatric Center “Frullone” ASL NA1 (author)
Miller, Bruce L.Trinity College Dublin,University of California, San Francisco (author)
Morris, Christopher M.University of Newcastle upon Tyne (author)
Morris, Huw R.University College London (author)
Nacmias, BenedettaUniversity of Florence,IRCCS Don Gnocchi Foundation (author)
Newton, JudithUniversity of Edinburgh (author)
Nielsen, Jørgen E.Copenhagen University Hospital(Swepub:lu)jo2580ni (author)
Nilsson, ChristerLund University,Lunds universitet,Translationell Neurologi,Forskargrupper vid Lunds universitet,Restorative Parkinson Unit,Translational Neurology (TNY),Lund University Research Groups(Swepub:lu)neur-cni (author)
Novelli, ValeriaCentro Cardiologico Monzino (author)
Padovani, AlessandroUniversity of Brescia (author)
Pal, SuvankarUniversity of Edinburgh (author)
Pasquier, FlorenceLille University Hospital,National Institute for Health and Medical Research, France,University of Lille (author)
Pastor, PauInstitute for Health Science Research Germans Trias i Pujol (IGTP),Hospital Universitari Germans Trias i Pujol (author)
Perneczky, RobertGerman Center for Neurodegenerative Diseases (DZNE), Bonn,University of Sheffield,Munich Cluster for Systems Neurology,Imperial College London,University Hospital Munich (author)
Peterlin, BorutUniversity Medical Centre Ljubljana (author)
Petersen, Ronald C.Mayo Clinic Minnesota (author)
Piguet, OlivierUniversity of Sydney (author)
Pijnenburg, Yolande ALVrije Universiteit Amsterdam (author)
Puca, Annibale A.IRCCS Multimedica,University of Salerno (author)
Rademakers, RosaMayo Clinic Florida,University of Antwerp,Flanders Interuniversity Institute for Biotechnology (author)
Rainero, InnocenzoUniversity of Turin,Citta' della Salute e della Scienza Hospital-University of Turin (author)
Reus, Lianne M.Vrije Universiteit Amsterdam,University of California, Los Angeles (author)
Richardson, Anna MTUniversity of Manchester (author)
Riemenschneider, MatthiasSaarland University Hospital (author)
Rogaeva, EkaterinaTanz Centre for Research in Neurodegenerative Diseases (author)
Rogelj, BorisJožef Stefan Institute,University of Ljubljana (author)
Rollinson, SaraUniversity of Manchester (author)
Rosen, HowardUniversity of California, San Francisco (author)
Rossi, GiacominaCarlo Besta Neurological Institute, IRCCS (author)
Rowe, James B.University of Cambridge (author)
Rubino, ElisaUniversity of Turin,Citta' della Salute e della Scienza Hospital-University of Turin (author)
Ruiz, AgustinInternational University of Catalonia,CIBER Enfermedades Neurodegenerativas (CIBERNED) (author)
Salvi, ErikaCarlo Besta Neurological Institute, IRCCS (author)
Sanchez-Valle, RaquelHospital Clínic of Barcelona (author)
Sando, Sigrid BotneNorwegian University of Science and Technology,St. Olav’s University Hospital (author)
Santillo, Alexander F.Lund University,Lunds universitet,Klinisk minnesforskning,Forskargrupper vid Lunds universitet,LU profilområde: Proaktivt åldrande,Lunds universitets profilområden,Clinical Memory Research,Lund University Research Groups,LU Profile Area: Proactive Ageing,Lund University Profile areas(Swepub:lu)med-ast (author)
Saxon, Jennifer A.University of Manchester (author)
Schlachetzki, Johannes CMUniversity of California, San Diego (author)
Scholz, Sonja W.Johns Hopkins University,National Institute of Neurological Disorders and Stroke (NINDS) (author)
Seelaar, HarroErasmus University Medical Center (author)
Seeley, William W.University of California, San Francisco (author)
Serpente, MariaMaggiore Hospital Policlinico (author)
Sorbi, SandroIRCCS Don Gnocchi Foundation,University of Florence (author)
Sordon, SabrinaSaarland University Hospital (author)
St George-Hyslop, PeterTanz Centre for Research in Neurodegenerative Diseases,Columbia University (author)
Thompson, Jennifer C.University of Manchester (author)
Van Broeckhoven, ChristineUniversity of Antwerp,Flanders Interuniversity Institute for Biotechnology (author)
Van Deerlin, Vivianna M.University of Pennsylvania (author)
Van der Lee, Sven J.Vrije Universiteit Amsterdam (author)
Van Swieten, JohnErasmus University Medical Center (author)
Tagliavini, FabrizioCarlo Besta Neurological Institute, IRCCS (author)
van der Zee, JulieUniversity of Antwerp,Flanders Interuniversity Institute for Biotechnology (author)
Veronesi, AriannaAzienda ULSS 2 (author)
Vitale, EmiliaKean University,CNR Istituto per le Tecnologie Applicate ai Beni Culturali (CNR-ITABC) (author)
Waldo, Maria LandqvistLund University,Lunds universitet,Kliniska Vetenskaper, Helsingborg,Sektion II,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Psykiatri, Lund,Sektion IV,Institutionen för kliniska vetenskaper, Lund,Clinical Sciences, Helsingborg,Section II,Department of Clinical Sciences, Lund,Faculty of Medicine,Psychiatry (Lund),Section IV,Department of Clinical Sciences, Lund(Swepub:lu)med-mlv (author)
Yokoyama, Jennifer S.University of California, San Francisco,Trinity College Dublin (author)
Nalls, Mike A.National Institute on Aging, United States,Data Tecnica International LLC (author)
Momeni, ParastooRona Holdings (author)
Singleton, Andrew B.National Institute on Aging, United States (author)
Hardy, JohnHong Kong University of Science and Technology,University College London,Reta Lila Weston Institute of Neurological Studies,University College London Hospital (author)
Escott-Price, ValentinaCardiff University (author)
UCL School of PharmacyUniversity College London (creator_code:org_t)

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In:American Journal of Human Genetics111:7, s. 1316-13290002-9297

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By the author/editor: Manzoni, Claudia; Kia, Demis A.; Ferrari, Raffael ...; Leonenko, Ganna; Costa, Beatrice; Saba, Valentina; show more...; Jabbari, Edwin; Tan, Manuela MX; Albani, Diego; Alvarez, Victori ...; Alvarez, Ignacio; Andreassen, Ole ...; Angiolillo, Anto ...; Arighi, Andrea; Baker, Matt; Benussi, Luisa; Bessi, Valentina; Binetti, Giulian ...; Blackburn, Danie ...; Boada, Merce; Boeve, Bradley F ...; Borrego-Ecija, S ...; Borroni, Barbara; Bråthen, Geir; Brooks, William ...; Bruni, Amalia C.; Caroppo, Paola; Bandres-Ciga, Sa ...; Clarimon, Jordi; Colao, Rosanna; Cruchaga, Carlos; Danek, Adrian; de Boer, Sterre ...; de Rojas, Itziar; di Costanzo, Alf ...; Dickson, Dennis ...; Diehl-Schmid, Ja ...; Dobson-Stone, Ca ...; Dols-Icardo, Ori ...; Donizetti, Aldo; Dopper, Elise; Durante, Elisabe ...; Ferrari, Camilla; Forloni, Gianlui ...; Frangipane, Fran ...; Fratiglioni, Lau ...; Kramberger, Mili ...; Galimberti, Dani ...; Gallucci, Mauriz ...; García-González, ...; Ghidoni, Roberta; Giaccone, Giorgi ...; Graff, Caroline; Graff-Radford, N ...; Grafman, Jordan; Halliday, Glenda ...; Hernandez, Dena ...; Hjermind, Lena E ...; Hodges, John R.; Holloway, Guy; Huey, Edward D.; Illán-Gala, Igna ...; Josephs, Keith A ...; Knopman, David S ...; Kristiansen, Mar ...; Kwok, John B.; Leber, Isabelle; Leonard, Hampton ...; Libri, Ilenia; Lleo, Alberto; Mackenzie, Ian R ...; Madhan, Gaganjit ...; Maletta, Raffael ...; Marquié, Marta; Maver, Ales; Menendez-Gonzale ...; Milan, Graziella; Miller, Bruce L.; Morris, Christop ...; Morris, Huw R.; Nacmias, Benedet ...; Newton, Judith; Nielsen, Jørgen ...; Nilsson, Christe ...; Novelli, Valeria; Padovani, Alessa ...; Pal, Suvankar; Pasquier, Floren ...; Pastor, Pau; Perneczky, Rober ...; Peterlin, Borut; Petersen, Ronald ...; Piguet, Olivier; Pijnenburg, Yola ...; Puca, Annibale A ...; Rademakers, Rosa; Rainero, Innocen ...; Reus, Lianne M.; Richardson, Anna ...; Riemenschneider, ...; Rogaeva, Ekateri ...; Rogelj, Boris; Rollinson, Sara; Rosen, Howard; Rossi, Giacomina; Rowe, James B.; Rubino, Elisa; Ruiz, Agustin; Salvi, Erika; Sanchez-Valle, R ...; Sando, Sigrid Bo ...; Santillo, Alexan ...; Saxon, Jennifer ...; Schlachetzki, Jo ...; Scholz, Sonja W.; Seelaar, Harro; Seeley, William ...; Serpente, Maria; Sorbi, Sandro; Sordon, Sabrina; St George-Hyslop ...; Thompson, Jennif ...; Van Broeckhoven, ...; Van Deerlin, Viv ...; Van der Lee, Sve ...; Van Swieten, Joh ...; Tagliavini, Fabr ...; van der Zee, Jul ...; Veronesi, Ariann ...; Vitale, Emilia; Waldo, Maria Lan ...; Yokoyama, Jennif ...; Nalls, Mike A.; Momeni, Parastoo; Singleton, Andre ...; Hardy, John; Escott-Price, Va ...; show less...

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