ArticleEuropean journal of human genetics : EJHG2025
A Spanish-Portuguese GWAS of progressive supranuclear palsy reveals a novel risk locus in NFASC.
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79 authors.
Pablo García-GonzálezAce Alzheimer Center Barcelona-Universitat Internacional de Catalunya, Barcelona, Spain.ORCID 0000-0003-0125-5403
Héctor Rodrigo LaraBanco de Cerebros de la Región de Murcia, Hospital Clínico Universitario Virgen de la Arrixaca, El Palmar, Spain.
Yaroslau ComptaParkinson's Disease & Movement Disorders Unit, Neurology Service, Hospital Clínic I Universitari de Barcelona; IDIBAPS, CIBERNED (CB06/05/0018-ISCIII), ERN- RND, Institut Clínic de Neurociències (Maria de Maeztu Excellence Centre), Universitat de Barcelona, Barcelona, Catalonia, Spain.
Manuel FernandezParkinson's Disease & Movement Disorders Unit, Neurology Service, Hospital Clínic I Universitari de Barcelona; IDIBAPS, CIBERNED (CB06/05/0018-ISCIII), ERN- RND, Institut Clínic de Neurociències (Maria de Maeztu Excellence Centre), Universitat de Barcelona, Barcelona, Catalonia, Spain.
Sven J van der LeeGenomics of Neurodegenerative Diseases and Aging, Human Genetics, Vrije Universiteit Amsterdam, Amsterdam UMC location VUmc, Amsterdam, Netherlands.ORCID 0000-0003-1606-8643
Itziar de RojasAce Alzheimer Center Barcelona-Universitat Internacional de Catalunya, Barcelona, Spain.ORCID 0000-0002-2148-381X
Laura SaizAlzheimer's Disease Research Unit, CIEN Foundation, Queen Sofia Foundation Alzheimer Center, Madrid, Spain.ORCID 0000-0001-9489-5455
Celia PainousParkinson's Disease & Movement Disorders Unit, Neurology Service, Hospital Clínic I Universitari de Barcelona; IDIBAPS, CIBERNED (CB06/05/0018-ISCIII), ERN- RND, Institut Clínic de Neurociències (Maria de Maeztu Excellence Centre), Universitat de Barcelona, Barcelona, Catalonia, Spain.
Ana CamaraParkinson's Disease & Movement Disorders Unit, Neurology Service, Hospital Clínic I Universitari de Barcelona; IDIBAPS, CIBERNED (CB06/05/0018-ISCIII), ERN- RND, Institut Clínic de Neurociències (Maria de Maeztu Excellence Centre), Universitat de Barcelona, Barcelona, Catalonia, Spain.
Esteban MuñozParkinson's Disease & Movement Disorders Unit, Neurology Service, Hospital Clínic I Universitari de Barcelona; IDIBAPS, CIBERNED (CB06/05/0018-ISCIII), ERN- RND, Institut Clínic de Neurociències (Maria de Maeztu Excellence Centre), Universitat de Barcelona, Barcelona, Catalonia, Spain.
Maria J MartiParkinson's Disease & Movement Disorders Unit, Neurology Service, Hospital Clínic I Universitari de Barcelona; IDIBAPS, CIBERNED (CB06/05/0018-ISCIII), ERN- RND, Institut Clínic de Neurociències (Maria de Maeztu Excellence Centre), Universitat de Barcelona, Barcelona, Catalonia, Spain.
Francesc ValldeoriolaParkinson's Disease & Movement Disorders Unit, Neurology Service, Hospital Clínic I Universitari de Barcelona; IDIBAPS, CIBERNED (CB06/05/0018-ISCIII), ERN- RND, Institut Clínic de Neurociències (Maria de Maeztu Excellence Centre), Universitat de Barcelona, Barcelona, Catalonia, Spain.
Raquel PuertaAce Alzheimer Center Barcelona-Universitat Internacional de Catalunya, Barcelona, Spain.ORCID 0000-0002-1191-5893
Ignacio Illán-GalaCIBERNED, Network Center for Biomedical Research in Neurodegenerative Diseases, National Institute of Health Carlos III, Madrid, Spain.
Javier PagonabarragaCIBERNED, Network Center for Biomedical Research in Neurodegenerative Diseases, National Institute of Health Carlos III, Madrid, Spain.ORCID 0000-0002-3248-704X
Oriol Dols-IcardoCIBERNED, Network Center for Biomedical Research in Neurodegenerative Diseases, National Institute of Health Carlos III, Madrid, Spain.ORCID 0000-0003-2656-8748
Jaime KulisevskyCIBERNED, Network Center for Biomedical Research in Neurodegenerative Diseases, National Institute of Health Carlos III, Madrid, Spain.ORCID 0000-0003-4870-1431
Juan ForteaCIBERNED, Network Center for Biomedical Research in Neurodegenerative Diseases, National Institute of Health Carlos III, Madrid, Spain.ORCID 0000-0002-1340-638X
Alberto LleóCIBERNED, Network Center for Biomedical Research in Neurodegenerative Diseases, National Institute of Health Carlos III, Madrid, Spain.ORCID 0000-0002-2568-5478
Claudia OlivéAce Alzheimer Center Barcelona-Universitat Internacional de Catalunya, Barcelona, Spain.ORCID 0000-0002-9438-5639
Sterre C M de BoerAlzheimer Center Amsterdam, Neurology, Vrije Universiteit Amsterdam, Amsterdam UMC location VUmc, Amsterdam, Netherlands.ORCID 0000-0002-9595-7221
Marc HulsmanGenomics of Neurodegenerative Diseases and Aging, Human Genetics, Vrije Universiteit Amsterdam, Amsterdam UMC location VUmc, Amsterdam, Netherlands.ORCID 0000-0002-9889-3606
Yolande A L PijnenburgAlzheimer Center Amsterdam, Neurology, Vrije Universiteit Amsterdam, Amsterdam UMC location VUmc, Amsterdam, Netherlands.
Rafael Díaz BellosoUnidad de Trastornos del Movimiento, Servicio de Neurología y Neurofisiología Clínica, Instituto de Biomedicina de Sevilla, IBiS / Hospital Universitario Virgen del Rocío/ CSIC / Universidad de Sevilla, Sevilla, Spain.
Laura Muñoz-DelgadoUnidad de Trastornos del Movimiento, Servicio de Neurología y Neurofisiología Clínica, Instituto de Biomedicina de Sevilla, IBiS / Hospital Universitario Virgen del Rocío/ CSIC / Universidad de Sevilla, Sevilla, Spain.ORCID 0000-0002-8818-1824
Dolores Buiza RuedaUnidad de Trastornos del Movimiento, Servicio de Neurología y Neurofisiología Clínica, Instituto de Biomedicina de Sevilla, IBiS / Hospital Universitario Virgen del Rocío/ CSIC / Universidad de Sevilla, Sevilla, Spain.
Pilar Gómez-GarreUnidad de Trastornos del Movimiento, Servicio de Neurología y Neurofisiología Clínica, Instituto de Biomedicina de Sevilla, IBiS / Hospital Universitario Virgen del Rocío/ CSIC / Universidad de Sevilla, Sevilla, Spain.
Iban AldecoaNeurological Tissue Bank, Biobanc-Hospital Clínic-FRCB-IDIBAPS, Barcelona, Spain.ORCID 0000-0001-5774-7453
Gemma AragonésNeurological Tissue Bank, Biobanc-Hospital Clínic-FRCB-IDIBAPS, Barcelona, Spain.
Jorge Hernandez VaraCentro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III, Madrid, Spain.
Maite MendiorozNavarrabiomed, Pamplona, Spain.ORCID 0000-0002-4179-5781
Jordi Pérez-TurCIBERNED, Network Center for Biomedical Research in Neurodegenerative Diseases, National Institute of Health Carlos III, Madrid, Spain.ORCID 0000-0002-9111-1712
Pieter Jelle VisserAlzheimer Center Amsterdam, Neurology, Vrije Universiteit Amsterdam, Amsterdam UMC location VUmc, Amsterdam, Netherlands.ORCID 0000-0001-8008-9727
Anouk den BraberAlzheimer Center Amsterdam, Neurology, Vrije Universiteit Amsterdam, Amsterdam UMC location VUmc, Amsterdam, Netherlands.
Janne M PapmaDepartment of Neurology and Alzheimer Center Erasmus MC, Erasmus MC University Medical Center, Rotterdam, Netherlands.
Ángel Martín MontesCIBERNED, Network Center for Biomedical Research in Neurodegenerative Diseases, National Institute of Health Carlos III, Madrid, Spain.ORCID 0000-0002-1694-786X
Eloy Rodriguez-RodriguezCIBERNED, Network Center for Biomedical Research in Neurodegenerative Diseases, National Institute of Health Carlos III, Madrid, Spain.
Josep Blázquez-FolchAce Alzheimer Center Barcelona-Universitat Internacional de Catalunya, Barcelona, Spain.ORCID 0009-0007-2903-7404
Andrea MiguelAce Alzheimer Center Barcelona-Universitat Internacional de Catalunya, Barcelona, Spain.
Fernando García-GutiérrezAce Alzheimer Center Barcelona-Universitat Internacional de Catalunya, Barcelona, Spain.
Amanda CanoAce Alzheimer Center Barcelona-Universitat Internacional de Catalunya, Barcelona, Spain.
Sergi ValeroAce Alzheimer Center Barcelona-Universitat Internacional de Catalunya, Barcelona, Spain.
Marta MarquiéAce Alzheimer Center Barcelona-Universitat Internacional de Catalunya, Barcelona, Spain.ORCID 0000-0002-0660-0950
María Capdevila-BayoAce Alzheimer Center Barcelona-Universitat Internacional de Catalunya, Barcelona, Spain.ORCID 0000-0002-0679-4417
Maitee Rosende-RocaAce Alzheimer Center Barcelona, Universitat Internacional de Catalunya, Barcelona, Spain.
Inés QuintelaGrupo de Medicina Xenómica, Fundación Pública Galega de Medicina Xenómica, Santiago de Compostela, Spain.
Ángel CarracedoGrupo de Medicina Xenómica, CIBERER, CIMUS. Universidade de Santiago de Compostela, Santiago de Compostela, Spain.
Lluís TàrragaAce Alzheimer Center Barcelona-Universitat Internacional de Catalunya, Barcelona, Spain.
Luis M RealInstituto de Biomedicina de Sevilla, IBiS/Hospital Universitario Virgen de Valme /CSIC/Universidad de Sevilla. Departamento de Bioqímica Médica, Biología Molecular e Inmunología, Sevilla, Spain.ORCID 0000-0003-4932-7429
Jose Luis RoyoDepartamento de Especialiaddes Quirurgicas, Bioquimica e Inmunologia, Facultad de Medicina, Universidad de Malaga, Malaga, Spain.
María Elena ErroServicio de Neurología, Hospital Universitario de Navarra, Pamplona, Spain.
Carmen GuerreroBanco de Cerebros (Biobanco), Hospital Universitario Fundación Alcorcón, Alcorcón, Spain.
Daniela Corte TorresBiobank of Principado de Asturias, Instituto de Investigación Sanitaria del Principado de Asturias (ISPA), Oviedo, Spain.
Marta Blázquez-EstradaServicio de Neurología, Hospital Universitario Central de Asturias, Oviedo, Spain.
Beatriz San MillánRare Diseases and Pediatric Medicine Research Group, Galicia Sur Health Research Institute (IIS Galicia Sur), SERGAS-UVIGO, Hospital Álvaro Cunqueiro, Vigo, Spain.
Susana TeijeiraRare Diseases and Pediatric Medicine Research Group, Galicia Sur Health Research Institute (IIS Galicia Sur), SERGAS-UVIGO, Hospital Álvaro Cunqueiro, Vigo, Spain.
Dolores Vilas RolanMovement Disorders Unit, Neurology Service, Hospital Germans Trias i Pujol, Badalona, Barcelona, Spain.
Isabel HernándezAce Alzheimer Center Barcelona-Universitat Internacional de Catalunya, Barcelona, Spain.
Antonio Sánchez-SoblecheroDepartment of Neurology, Instituto de Investigación Sanitaria Gregorio Marañón, Hospital General Universitario Gregorio Marañón, Madrid, Spain.
Beatriz de la Casa-FagesMovement Disorders Unit, Neurology Department, Instituto de Investigación Sanitaria Gregorio Marañón, Hospital General Universitario Gregorio Marañón, Madrid, Spain.
Soledad Serrano LópezHospital La Paz Institute for Health Research, IdiPAZ, Madrid, Spain.ORCID 0000-0002-0299-6679
Raquel Baviera-MuñozMolecular, Cellular and Genomics Biomedicine Research Group. Instituto de Investigación Sanitaria La Fe, Valencia, Spain.
Amaya LavínNavarrabiomed, Hospital Universitario de Navarra (HUN), Universidad Pública de Navarra (UPNA), IdiSNA, Pamplona, Spain.ORCID 0009-0003-5035-5918
Ricardo TaipaDepartment of Neuropathology, Centro Hospitalar Universitário de Santo António, Porto, Portugal.ORCID 0000-0002-9260-0227
Guillermo AmerCognitive Neurology Unit, Son Espases University Hospital, Palma, Spain.
Elena Martinez-SaezPathology Department, Neuropathology. Vall d'Hebron University Hospital, Barcelona, Spain.
Marta Fernández-MatarrubiaDepartment of Neurology, Clínica Universidad de Navarra, Pamplona, Spain.ORCID 0000-0002-6732-2691
Carmen Lage-MartínezCIBERNED, Network Center for Biomedical Research in Neurodegenerative Diseases, National Institute of Health Carlos III, Madrid, Spain.
Victoria ÁlvarezInstituto de Investigación Sanitaria del Principado de Asturias (ISPA), Oviedo, Spain.ORCID 0000-0002-1916-2523
Laura Molina-PorcelNeurological Tissue Bank, Biobanc-Hospital Clínic-FRCB-IDIBAPS, Barcelona, Spain.ORCID 0000-0003-4068-8578
Henne HolstegeGenomics of Neurodegenerative Diseases and Aging, Human Genetics, Vrije Universiteit Amsterdam, Amsterdam UMC location VUmc, Amsterdam, Netherlands.ORCID 0000-0002-7688-3087
Pablo MirUnidad de Trastornos del Movimiento, Servicio de Neurología y Neurofisiología Clínica, Instituto de Biomedicina de Sevilla, IBiS / Hospital Universitario Virgen del Rocío/ CSIC / Universidad de Sevilla, Sevilla, Spain.ORCID 0000-0003-1656-302X
Olivia BelbinCIBERNED, Network Center for Biomedical Research in Neurodegenerative Diseases, National Institute of Health Carlos III, Madrid, Spain.ORCID 0000-0002-6109-6371
Mercè BoadaAce Alzheimer Center Barcelona-Universitat Internacional de Catalunya, Barcelona, Spain.ORCID 0000-0003-2617-3009
Victoria FernándezAce Alzheimer Center Barcelona-Universitat Internacional de Catalunya, Barcelona, Spain.
María J Bullido *CIBERNED, Network Center for Biomedical Research in Neurodegenerative Diseases, National Institute of Health Carlos III, Madrid, Spain.ORCID 0000-0002-6477-1117
Alberto Rábano *CIBERNED, Network Center for Biomedical Research in Neurodegenerative Diseases, National Institute of Health Carlos III, Madrid, Spain.ORCID 0000-0001-9320-6566
Pascual Sánchez-Juan *CIBERNED, Network Center for Biomedical Research in Neurodegenerative Diseases, National Institute of Health Carlos III, Madrid, Spain.
Agustín Ruiz *Ace Alzheimer Center Barcelona-Universitat Internacional de Catalunya, Barcelona, Spain. aruiz@fundacioace.com.ORCID 0000-0003-2633-2495
Funding
Ministry of Economy and Competitiveness | Instituto de Salud Carlos III (Institute of Health Carlos III) CB21/13/00118Ministry of Economy and Competitiveness | Instituto de Salud Carlos III (Institute of Health Carlos III) CM21/00051Ministry of Economy and Competitiveness | Instituto de Salud Carlos III (Institute of Health Carlos III) PI13/02434Ministry of Economy and Competitiveness | Instituto de Salud Carlos III (Institute of Health Carlos III) PI16/01861Ministry of Economy and Competitiveness | Instituto de Salud Carlos III (Institute of Health Carlos III) PI17/00096Ministry of Economy and Competitiveness | Instituto de Salud Carlos III (Institute of Health Carlos III) PI17/01474Ministry of Economy and Competitiveness | Instituto de Salud Carlos III (Institute of Health Carlos III) PI19/00335Ministry of Economy and Competitiveness | Instituto de Salud Carlos III (Institute of Health Carlos III) PI19/01240Ministry of Economy and Competitiveness | Instituto de Salud Carlos III (Institute of Health Carlos III) PI19/01301Ministry of Economy and Competitiveness | Instituto de Salud Carlos III (Institute of Health Carlos III) PI20/01011Ministry of Economy and Competitiveness | Instituto de Salud Carlos III (Institute of Health Carlos III) PI22/011403Ministry of Economy and Competitiveness | Instituto de Salud Carlos III (Institute of Health Carlos III) PMP22/00022
Abstract
Progressive supranuclear palsy (PSP) is a rare 4-repeat tauopathy that causes behavioural, movement and cognitive abnormalities. We genotyped all available clinical and histopathological PSP cases in Spain and Portugal (N = 522), and conducted the largest PSP GWAS of the Iberian population to date. Genetic burden analysis revealed reduced diagnostic specificity in clinically diagnosed atypical PSP cases-when applying the 2017 MDS criteria-compared to Richardson's syndrome cases. We independently replicated eight PSP risk variants in seven known loci (MAPT, MOBP, EIF2AK3, STX6, SLCO1A2, DUSP10 and APOE), and identified a novel locus in NFASC/CNTN2 (rs12744678 C: OR[95%CI] = 0.83[0.78-0.89]; p = 4.15·10
Indexed as
Supranuclear Palsy, ProgressiveAgedFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMaleMiddle AgedPolymorphism, Single NucleotidePortugalSpain
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