{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T01:54:14Z","timestamp":1791251654910,"version":"4.1.0"},"reference-count":38,"publisher":"SAGE Publications","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JAD"],"published-print":{"date-parts":[[2015,11,27]]},"abstract":"<jats:p>The MAPT H1 haplotype has been linked to several disorders, but its relationship with Alzheimer\u2019s disease (AD) remains controversial. A rare variant in MAPT (p.A152T) has been linked with frontotemporal dementia (FTD) and AD. We genotyped H1\/H2 and p.A152T MAPT in 11,572 subjects from Spain (4,327 AD, 563 FTD, 648 Parkinson\u2019s disease (PD), 84 progressive supranuclear palsy (PSP), and 5,950 healthy controls). Additionally, we included 101 individuals from 21 families with genetic FTD. MAPT p.A152T was borderline significantly associated with FTD [odds ratio (OR)\u200a=\u200a2.03; p\u200a=\u200a0.063], but not with AD. MAPT H1 haplotype was associated with AD risk (OR\u200a=\u200a1.12; p\u200a=\u200a0.0005). Stratification analysis showed that this association was mainly driven by APOE \u025b4 noncarriers (OR\u200a=\u200a1.14; p\u200a=\u200a0.0025). MAPT H1 was also associated with risk for PD (OR\u200a=\u200a1.30; p\u200a=\u200a0.0003) and PSP (OR\u200a=\u200a3.18; p\u200a=\u200a8.59 \u00d7 10-8) but not FTD. Our results suggest that the MAPT H1 haplotype increases the risk of PD, PSP, and non-APOE \u025b4 AD.<\/jats:p>","DOI":"10.3233\/jad-150555","type":"journal-article","created":{"date-parts":[[2015,11,27]],"date-time":"2015-11-27T08:36:53Z","timestamp":1448613413000},"page":"343-352","source":"Crossref","is-referenced-by-count":39,"title":["MAPT H1 Haplotype is Associated with Late-Onset Alzheimer\u2019s Disease Risk in APOE \u025b4 Noncarriers: Results from the Dementia Genetics Spanish Consortium"],"prefix":"10.1177","volume":"49","author":[{"given":"Pau","family":"Pastor","sequence":"first","affiliation":[{"name":"Neurogenetics Laboratory, Division of Neurosciences, Center for Applied Medical Research, University of Navarra (CIMA), Pamplona, Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Neurodegenerativas, CIBERNED, Instituto de Salud Carlos III, Madrid, Spain"},{"name":"Department of Neurology, Hospital Universitari Mutua de Terrassa, University of Barcelona School of Medicine, Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"on behalf of The Dementia Genetic Spanish Consortium (DEGESCO)","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ferm\u00edn","family":"Moreno","sequence":"additional","affiliation":[{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Neurodegenerativas, CIBERNED, Instituto de Salud Carlos III, Madrid, Spain"},{"name":"Department of Neurology. 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San Sebasti\u00e1n, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jordi","family":"Clarim\u00f3n","sequence":"additional","affiliation":[{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Neurodegenerativas, CIBERNED, Instituto de Salud Carlos III, Madrid, Spain"},{"name":"Neurology Department, Hospital de la Santa Creu i Sant Pau - Biomedical Research Institute Sant Pau - Universitat Aut\u00f2noma de Barcelona, Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agust\u00edn","family":"Ruiz","sequence":"additional","affiliation":[{"name":"Memory Clinic of Fundaci\u00f2 ACE, Institut Catal\u00e1 de Neuroci\u00e8ncies Aplicades, Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Onofre","family":"Combarros","sequence":"additional","affiliation":[{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Neurodegenerativas, CIBERNED, Instituto de Salud Carlos III, Madrid, Spain"},{"name":"Neurology Service, University Hospital Marqu\u00e9s de Valdecilla (University of Cantabria and IDIVAL), Santander, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miguel","family":"Calero","sequence":"additional","affiliation":[{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Neurodegenerativas, CIBERNED, Instituto de Salud Carlos III, Madrid, Spain"},{"name":"Memory Clinic of Fundaci\u00f2 ACE, Institut Catal\u00e1 de Neuroci\u00e8ncies Aplicades, Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adolfo L\u00f3pez","family":"de Munain","sequence":"additional","affiliation":[{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Neurodegenerativas, CIBERNED, Instituto de Salud Carlos III, Madrid, Spain"},{"name":"Department of Neurology. 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San Sebasti\u00e1n, Spain"},{"name":"Neurosciences Area, Institute Biodonostia and Department of Neurosciences, University of Basque Country, UPV-EHU San Sebasti\u00e1n, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria J.","family":"Bullido","sequence":"additional","affiliation":[{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Neurodegenerativas, CIBERNED, Instituto de Salud Carlos III, Madrid, Spain"},{"name":"Centro de Biolog\u00eda Molecular Severo Ochoa (CSIC-UAM), Madrid, Spain"},{"name":"Institute of Sanitary Research\u201cHospital la Paz\u201d (IdIPaz), Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marian M.","family":"de Pancorbo","sequence":"additional","affiliation":[{"name":"BIOMICs Research Group, Centro de Investigaci\u00f3n \u201cLascaray\u201d Ikergunea, Universidad del Pa\u00eds Vasco UPV\/EHU, Vitoria-Gasteiz, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva","family":"Carro","sequence":"additional","affiliation":[{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Neurodegenerativas, CIBERNED, Instituto de Salud Carlos III, Madrid, Spain"},{"name":"Neuroscience Group, Instituto de Investigacion Hospital 12 de Octubre (i+12), Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Antonell","sequence":"additional","affiliation":[{"name":"Alzheimer\u2019s disease and other cognitive disorders Unit, Neurology Department, Hospital Cl\u00ednic, IDIBAPS, Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eliecer","family":"Coto","sequence":"additional","affiliation":[{"name":"Molecular Genetics Laboratory, Genetics Unit, Hospital Universitario Central de Asturias, Oviedo, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Ortega-Cubero","sequence":"additional","affiliation":[{"name":"Neurogenetics Laboratory, Division of Neurosciences, Center for Applied Medical Research, University of Navarra (CIMA), Pamplona, Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Neurodegenerativas, CIBERNED, Instituto de Salud Carlos III, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabel","family":"Hernandez","sequence":"additional","affiliation":[{"name":"Memory Clinic of Fundaci\u00f2 ACE, Institut Catal\u00e1 de Neuroci\u00e8ncies Aplicades, Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Llu\u00eds","family":"T\u00e1rraga","sequence":"additional","affiliation":[{"name":"Memory Clinic of Fundaci\u00f2 ACE, Institut Catal\u00e1 de Neuroci\u00e8ncies Aplicades, Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Merc\u00e8","family":"Boada","sequence":"additional","affiliation":[{"name":"Memory Clinic of Fundaci\u00f2 ACE, Institut Catal\u00e1 de Neuroci\u00e8ncies Aplicades, Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alberto","family":"Lle\u00f3","sequence":"additional","affiliation":[{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Neurodegenerativas, CIBERNED, Instituto de Salud Carlos III, Madrid, Spain"},{"name":"Neurology Department, Hospital de la Santa Creu i Sant Pau - 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