ArticleTranslational psychiatry2021
Long runs of homozygosity are associated with Alzheimer's disease.
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Article in Translational psychiatry, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.
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14citing papers in PubMed, 1 pooled it
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Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it, 38 citations in OpenAlex.
- Novel genes and sex differences in COVID-19 severity.Human molecular genetics · 2022Pooled it
- Genotypic and phenotypic consequences of domestication in dogs.G3 (Bethesda, Md.) · 2026Article
- Genome-Wide Assessment Reveals Ancestral Differences in Homozygosity Patterns Potentially Linked to Parkinson's Disease Etiology.Movement disorders : official journal of the Movement Disorder Society · 2026Article
- The Influence of Demographic History and Genetic Architecture on Complex Traits via Runs of Homozygosity.bioRxiv : the preprint server for biology · 2025Article
- Genotypic and phenotypic consequences of domestication in dogs.bioRxiv : the preprint server for biology · 2025Article
- Genome-wide association analyses reveal susceptibility variants linked to Parkinson's disease in the South African population using inferred global and local ancestry.medRxiv : the preprint server for health sciences · 2025Article
- A genomic tale of inbreeding in western Mediterranean human populations.Human genetics · 2025Article
- Genome-wide assessment identifies novel runs of homozygosity linked to Parkinson's disease etiology across diverse ancestral populations.medRxiv : the preprint server for health sciences · 2025Article
- Exome sequencing of a Portuguese cohort of early-onset Alzheimer's disease implicates the X-linked lysosomal gene GLA.Scientific reports · 2025Article
- The Memory Abilities of the Elderly Horse.Animals : an open access journal from MDPI · 2024Article
- Discovery of runs-of-homozygosity diplotype clusters and their associations with diseases in UK Biobank.eLife · 2024Article
- SNP heterozygosity, relatedness and inbreeding of whole genomes from the isolated population of the Faroe Islands.BMC genomics · 2023Article
- Disease risk and healthcare utilization among ancestrally diverse groups in the Los Angeles region.Nature medicine · 2023Article
- Dementia-related genetic variants in an Italian population of early-onset Alzheimer's disease.Frontiers in aging neuroscience · 2022Article
Corrections and comments
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Authors and funding
46 authors at 20 institutions in 2 countries.
Sonia Moreno-GrauResearch Center and Memory clinic Fundació ACE. Institut Català de Neurociències Aplicades, Universitat Internacional de Catalunya, Barcelona, Spain.
Maria Victoria FernándezDepartment of Psychiatry, Washington University School of Medicine, St. Louis, MO, United States of America.ORCID 0000-0002-9669-5147
Itziar de RojasResearch Center and Memory clinic Fundació ACE. Institut Català de Neurociències Aplicades, Universitat Internacional de Catalunya, Barcelona, Spain.ORCID 0000-0002-2148-381X
Pablo Garcia-GonzálezResearch Center and Memory clinic Fundació ACE. Institut Català de Neurociències Aplicades, Universitat Internacional de Catalunya, Barcelona, Spain.ORCID 0000-0003-0125-5403
Isabel HernándezResearch Center and Memory clinic Fundació ACE. Institut Català de Neurociències Aplicades, Universitat Internacional de Catalunya, Barcelona, Spain.
Fabiana FariasDepartment of Psychiatry, Washington University School of Medicine, St. Louis, MO, United States of America.ORCID 0000-0002-5215-7304
John P BuddeDepartment of Psychiatry, Washington University School of Medicine, St. Louis, MO, United States of America.ORCID 0000-0001-7778-7276
Inés QuintelaGrupo de Medicina Xenómica, Centro Nacional de Genotipado (CEGEN-PRB3-ISCIII), Universidade de Santiago de Compostela, Santiago de Compostela, Spain.
Laura MadridCAEBI. Centro Andaluz de Estudios Bioinformáticos, Sevilla, Spain.ORCID 0000-0001-5851-3341
Antonio González-PérezCAEBI. Centro Andaluz de Estudios Bioinformáticos, Sevilla, Spain.
Laura MontrrealResearch Center and Memory clinic Fundació ACE. Institut Català de Neurociències Aplicades, Universitat Internacional de Catalunya, Barcelona, Spain.
Emilio Alarcón-MartínResearch Center and Memory clinic Fundació ACE. Institut Català de Neurociències Aplicades, Universitat Internacional de Catalunya, Barcelona, Spain.
Montserrat AlegretResearch Center and Memory clinic Fundació ACE. Institut Català de Neurociències Aplicades, Universitat Internacional de Catalunya, Barcelona, Spain.
Olalla MaroñasGrupo de Medicina Xenómica, Centro Nacional de Genotipado (CEGEN-PRB3-ISCIII), Universidade de Santiago de Compostela, Santiago de Compostela, Spain.
Juan Antonio PinedaUnidad Clínica de Enfermedades Infecciosas y Microbiología. Hospital Universitario de Valme, Sevilla, Spain.
Juan MacíasUnidad Clínica de Enfermedades Infecciosas y Microbiología. Hospital Universitario de Valme, Sevilla, Spain.
GR@ACE study group
DEGESCO consortium
Marta MarquiéResearch Center and Memory clinic Fundació ACE. Institut Català de Neurociències Aplicades, Universitat Internacional de Catalunya, Barcelona, Spain.ORCID 0000-0002-0660-0950
Sergi ValeroResearch Center and Memory clinic Fundació ACE. Institut Català de Neurociències Aplicades, Universitat Internacional de Catalunya, Barcelona, Spain.
Alba BenaqueResearch Center and Memory clinic Fundació ACE. Institut Català de Neurociències Aplicades, Universitat Internacional de Catalunya, Barcelona, Spain.
Jordi ClarimónCIBERNED, Center for Networked Biomedical Research on Neurodegenerative Diseases, Carlos III Institute of Health, Madrid, Spain.
Maria Jesus BullidoCIBERNED, Center for Networked Biomedical Research on Neurodegenerative Diseases, Carlos III Institute of Health, Madrid, Spain.ORCID 0000-0002-6477-1117
Guillermo García-RibasHospital Universitario Ramón y Cajal, Madrid, Spain.
Pau PástorFundació per la Recerca Biomèdica i Social Mútua Terrassa, and Memory Disorders Unit, Department of Neurology, Hospital Universitari Mútua de Terrassa, University of Barcelona School of Medicine, Terrassa, Barcelona, Spain.ORCID 0000-0002-7493-8777
Pascual Sánchez-JuanCIBERNED, Center for Networked Biomedical Research on Neurodegenerative Diseases, Carlos III Institute of Health, Madrid, Spain.
Victoria ÁlvarezLaboratorio de Genética Hospital Universitario Central de Asturias, Oviedo, Spain.
Gerard Piñol-RipollCIBERNED, Center for Networked Biomedical Research on Neurodegenerative Diseases, Carlos III Institute of Health, Madrid, Spain.
Jose María García-AlbercaAlzheimer Research Center & Memory Clinic, Andalusian Institute for Neuroscience, Málaga, Spain.ORCID 0000-0003-2951-6644
José Luis RoyoDep. of Surgery, Biochemistry and Molecular Biology, School of Medicine, University of Málaga, Málaga, Spain.
Emilio Franco-MacíasUnidad de Demencias, Servicio de Neurología y Neurofisiología. Instituto de Biomedicina de Sevilla (IBiS), Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Seville, Spain.
Pablo MirCIBERNED, Center for Networked Biomedical Research on Neurodegenerative Diseases, Carlos III Institute of Health, Madrid, Spain.ORCID 0000-0003-1656-302X
Miguel CaleroCIBERNED, Center for Networked Biomedical Research on Neurodegenerative Diseases, Carlos III Institute of Health, Madrid, Spain.ORCID 0000-0001-5366-3324
Miguel MedinaCIBERNED, Center for Networked Biomedical Research on Neurodegenerative Diseases, Carlos III Institute of Health, Madrid, Spain.ORCID 0000-0002-7016-5340
Alberto RábanoCIBERNED, Center for Networked Biomedical Research on Neurodegenerative Diseases, Carlos III Institute of Health, Madrid, Spain.
Jesús ÁvilaCIBERNED, Center for Networked Biomedical Research on Neurodegenerative Diseases, Carlos III Institute of Health, Madrid, Spain.
Carmen AntúnezUnidad de Demencias, Hospital Clínico Universitario Virgen de la Arrixaca, Madrid, Spain.
Luis Miguel RealUnidad Clínica de Enfermedades Infecciosas y Microbiología. Hospital Universitario de Valme, Sevilla, Spain.ORCID 0000-0003-4932-7429
Adelina OrellanaResearch Center and Memory clinic Fundació ACE. Institut Català de Neurociències Aplicades, Universitat Internacional de Catalunya, Barcelona, Spain.
Ángel CarracedoGrupo de Medicina Xenómica, Centro Nacional de Genotipado (CEGEN-PRB3-ISCIII), Universidade de Santiago de Compostela, Santiago de Compostela, Spain.
María Eugenia SáezCAEBI. Centro Andaluz de Estudios Bioinformáticos, Sevilla, Spain.
Lluís TárragaResearch Center and Memory clinic Fundació ACE. Institut Català de Neurociències Aplicades, Universitat Internacional de Catalunya, Barcelona, Spain.
Mercè BoadaResearch Center and Memory clinic Fundació ACE. Institut Català de Neurociències Aplicades, Universitat Internacional de Catalunya, Barcelona, Spain.ORCID 0000-0003-2617-3009
Carlos CruchagaDepartment of Psychiatry, Washington University School of Medicine, St. Louis, MO, United States of America.
Agustín RuizResearch Center and Memory clinic Fundació ACE. Institut Català de Neurociències Aplicades, Universitat Internacional de Catalunya, Barcelona, Spain. aruiz@fundacioace.org.ORCID 0000-0003-2633-2495
Alzheimer’s Disease Neuroimaging Initiative
Biomedical Research Networking Center on Neurodegenerative Diseases · ESFundació ACE · ESUniversidade de Santiago de Compostela · ESHospital Universitario Virgen de la Arrixaca · ESCentro Andaluz de Biología del Desarrollo · ESInstituto de Biomedicina de Sevilla · ESUniversidad de Cantabria · ESHospital Universitario de Valme · ESMútua Terrassa · ESUniversitat Autònoma de Barcelona · ESWashington University in St. Louis · USInstituto de Investigación Biosanitaria de Granada · ESInstituto de Salud Carlos III · ESCentro de Investigación Biomédica en Red Diabetes y Enfermedades Metabólicas Asociadas · ESConsejo Superior de Investigaciones Científicas · ESHospital Universitari i Politècnic La Fe · ESHospital Universitario Ramón y Cajal · ESUniversidad de Málaga · ESFundacion CITA Alzheimer · ESHope Center for Neurological Disorders · US
Funding
Alzheimer's Disease Neuroimaging Initiative - SupplementU01AG024904 · NIA · NORTHERN CALIFORNIA INSTITUTE RES &EDUC · PI WEINER, MICHAEL W · 2004 to 2015
$121.0MNational Centralized Repository for Alzheimer's Disease and Related Dementias (NCRAD)U24AG021886 · NIA · INDIANA UNIV-PURDUE UNIV AT INDIANAPOLIS · PI TATIANA M. FOROUD · 2002 to 2026
$119.8MVascular Structure and Function in Cognitive AgingP01AG003949 · NIA · YESHIVA UNIVERSITY · PI Richard B. LIPTON · 1985 to 2026
$73.9MNATIONAL ALZHEIMERS COORDINATING CENTER (NACC)U01AG016976 · NIA · UNIVERSITY OF WASHINGTON · PI KUKULL, WALTER ANTHONY · 1999 to 2020
$72.8MSmartphone-Based "Burst" Cognitive AssessmentsP01AG003991 · NIA · WASHINGTON UNIVERSITY · PI Tammie Lee Smith Benzinger · 1985 to 2026
$69.5MAlzheimer's Disease Genetics ConsortiumU01AG032984 · NIA · UNIVERSITY OF PENNSYLVANIA · PI SCHELLENBERG, GERARD DAVID · 2009 to 2024
$60.4MWASHINGTON UNIVERSITY ALZHEIMERS DISEASE RESEARCH CENTERP50AG005681 · NIA · WASHINGTON UNIVERSITY · PI MORRIS, JOHN · 1985 to 2019
$52.1MSUPPLEMENT TO ALZHEIMERS DISEASE PATIENT REGISTRYU01AG006786 · NIA · MAYO CLINIC ROCHESTER · PI GRAFF-RADFORD, JONATHAN, JACK, CLIFFORD R. · 1986 to 2023
$49.6MThe natural history of AB accumulation in preclinical ADP01AG026276 · NIA · WASHINGTON UNIVERSITY · PI SCHINDLER, SUZANNE ELIZABETH · 2005 to 2025
$49.5MSUPPLEMENT TO RUSH ALZHEIMERS DISEASE CENTER COREP30AG010161 · NIA · RUSH UNIVERSITY MEDICAL CENTER · PI BENNETT, DAVID ALAN · 1991 to 2020
$49.1MEPIDEMIOLOGY OF NEURAL RESERVE AND NEUROBIOLOGY IN AGINGR01AG017917 · NIA · RUSH UNIVERSITY MEDICAL CENTER · PI BENNETT, DAVID ALAN · 2001 to 2023
$43.3MTHE PGRN/TDP-43 AXIS IN ALZHEIMER?S DISEASE AND NEURODEGENERATIONP50AG016574 · NIA · MAYO CLINIC ROCHESTER · PI BU, GUOJUN · 1999 to 2018
$36.9MAlzheimer's Association NIRG-11-200110, BAND-14-338165, AARG-16-441560 and BFG-15-362540NHLBI NIH HHS R01 HL105756NIA NIH HHS P01 AG003949NIA NIH HHS P01 AG003991NIA NIH HHS P01 AG017216NIA NIH HHS P01 AG026276NIA NIH HHS P30 AG010161NIA NIH HHS P30 AG019610NIA NIH HHS P30 AG066444NIA NIH HHS P50 AG005681NIA NIH HHS P50 AG016574NIA NIH HHS P50 AG025711NIA NIH HHS R01 AG015819NIA NIH HHS R01 AG017917NIA NIH HHS R01 AG018023NIA NIH HHS R01 AG023193NIA NIH HHS R01 AG030146NIA NIH HHS R01 AG032990NIA NIH HHS R01 AG033193NIA NIH HHS R01 AG036836NIA NIH HHS R01 AG044546NIA NIH HHS R01 AG057777NIA NIH HHS R01 AG058501NIA NIH HHS RF1 AG044546NIA NIH HHS RF1 AG053303NIA NIH HHS RF1 AG058501NIA NIH HHS U01 AG006786NIA NIH HHS U01 AG016976NIA NIH HHS U01 AG024904NIA NIH HHS U01 AG032984NIA NIH HHS U01 AG046139NIA NIH HHS U01 AG046152NIA NIH HHS U01 AG058922NIA NIH HHS U24 AG021886NIA NIH HHS U24 AG056270NIA NIH HHS U54 AG052427NINDS NIH HHS R01 NS080820U.S. Department of Health & Human Services | National Institutes of Health (NIH) R01AG044546, P01AG003991, RF1AG053303, R01AG058501, U01AG058922, RF1AG058501 and R01AG057777Wellcome Trust
Abstract
Long runs of homozygosity (ROH) are contiguous stretches of homozygous genotypes, which are a footprint of inbreeding and recessive inheritance. The presence of recessive loci is suggested for Alzheimer's disease (AD); however, their search has been poorly assessed to date. To investigate homozygosity in AD, here we performed a fine-scale ROH analysis using 10 independent cohorts of European ancestry (11,919 AD cases and 9181 controls.) We detected an increase of homozygosity in AD cases compared to controls [β
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Alzheimer DiseaseHomozygoteHumansPolymorphism, Single Nucleotide
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