ArticleInternational journal of molecular sciences2023
Mendelian Randomisation Confirms the Role of Y-Chromosome Loss in Alzheimer's Disease Aetiopathogenesis in Men.
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Article in International journal of molecular sciences, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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22citing papers in PubMed
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22 citing papers in PubMed, 29 citations in OpenAlex.
- Loss of chromosome Y in hematopoietic cells: mechanisms and implications for human disease.MedScience · 2026Review
- Impact of Tau overexpression on DNA replication dynamics in centromeres of human neural progenitor cells.iScience · 2026Article
- Genomics link obesity and type 2 diabetes to Alzheimer's disease to unveil novel biological insights.medRxiv : the preprint server for health sciences · 2026Article
- Loss of Y chromosome in Alzheimer's patients co-occurs with somatic mutations beyond CHIP drivers.Life science alliance · 2026Article
- Loss of Y Chromosome and Major Cardiovascular Events in a Prospective Study of Older Men.Journal of the American College of Cardiology · 2026Article
- Generation of two isogenic induced pluripotent stem cell lines derived from a Hispanic individual with Alzheimer's Disease and mosaic for loss of the Y chromosome.Stem cell research · 2025Article
- Brain somatic mutations in Alzheimer's disease: linking genetic mosaicism to neurodegeneration.Molecular neurodegeneration · 2025Review
- The effects of loss of Y chromosome on male health.Nature reviews. Genetics · 2025Review
- Association of Hematopoietic Loss of Y Chromosome With Atrial Fibrillation Incidence and Sex Disparity.JACC. Basic to translational science · 2025Article
- DNA methylation patterns contribute to changes of cellular differentiation pathways in leukocytes with LOY from patients with Alzheimer´s disease.Cellular and molecular life sciences : CMLS · 2025Article
- A complex systems approach to mosaic loss of the Y chromosome.GeroScience · 2025Review
- Age-related cardiovascular disease and mosaic hematopoietic loss of the Y chromosome.The journal of cardiovascular aging · 2025Article
- Mosaic loss of chromosome Y, tobacco smoking and risk of age-related lung diseases: insights from two prospective cohorts.The European respiratory journal · 2024Article
- Associations Between Mosaic Loss of Sex Chromosomes and Incident Hospitalization for Atrial Fibrillation in the United Kingdom.Journal of the American Heart Association · 2024Article
- The impact of mosaic loss of the Y chromosome (mLOY) in men of advanced age.Biogerontology · 2024Review
- Y Chromosome Loss and Implications for Oncology.Molecular cancer research : MCR · 2024Review
- Associations between mosaic loss of sex chromosomes and incident hospitalization for atrial fibrillation in the United Kingdom.medRxiv : the preprint server for health sciences · 2024Article
- Loss of the Y Chromosome: A Review of Molecular Mechanisms, Age Inference, and Implications for Men's Health.International journal of molecular sciences · 2024Review
- Why Y matters? The implication of loss of Y chromosome in blood and cancer.Cancer science · 2024Review
- Genetic Analysis of 27 Y-STR Haplotypes in 11 Iranian Ethnic Groups.Archives of Iranian medicine · 2024Article
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Authors and funding
43 authors at 16 institutions in 3 countries.
Pablo García-GonzálezResearch Center and Memory Clinic, Ace Alzheimer Center Barcelona, Universitat Internacional de Catalunya, 08017 Barcelona, Spain.ORCID 0000-0003-0125-5403
Itziar de RojasResearch Center and Memory Clinic, Ace Alzheimer Center Barcelona, Universitat Internacional de Catalunya, 08017 Barcelona, Spain.ORCID 0000-0002-2148-381X
Sonia Moreno-GrauResearch Center and Memory Clinic, Ace Alzheimer Center Barcelona, Universitat Internacional de Catalunya, 08017 Barcelona, Spain.
Laura MontrrealResearch Center and Memory Clinic, Ace Alzheimer Center Barcelona, Universitat Internacional de Catalunya, 08017 Barcelona, Spain.
Raquel PuertaResearch Center and Memory Clinic, Ace Alzheimer Center Barcelona, Universitat Internacional de Catalunya, 08017 Barcelona, Spain.ORCID 0000-0002-1191-5893
Emilio Alarcón-MartínResearch Center and Memory Clinic, Ace Alzheimer Center Barcelona, Universitat Internacional de Catalunya, 08017 Barcelona, Spain.
Inés QuintelaGrupo de Medicina Xenómica, Centro Nacional de Genotipado (CEGEN-PRB3-ISCIII), Universidade de Santiago de Compostela, 15705 Santiago de Compostela, Spain.
Adela OrellanaResearch Center and Memory Clinic, Ace Alzheimer Center Barcelona, Universitat Internacional de Catalunya, 08017 Barcelona, Spain.
Victor AndradeDivision of Neurogenetics and Molecular Psychiatry, Department of Psychiatry and Psychotherapy, Medical Faculty, University of Cologne, 50937 Cologne, Germany.
Pamela V Martino AdamiDivision of Neurogenetics and Molecular Psychiatry, Department of Psychiatry and Psychotherapy, Medical Faculty, University of Cologne, 50937 Cologne, Germany.
Stefanie Heilmann-HeimbachInstitute of Human Genetics, School of Medicine & University Hospital Bonn, University of Bonn, 53127 Bonn, Germany.
Pilar Gomez-GarreCIBERNED, Network Center for Biomedical Research in Neurodegenerative Diseases, National Institute of Health Carlos III, 28220 Madrid, Spain.
María Teresa PeriñánCIBERNED, Network Center for Biomedical Research in Neurodegenerative Diseases, National Institute of Health Carlos III, 28220 Madrid, Spain.
Ignacio AlvarezFundació Docència i Recerca MútuaTerrassa, 08221 Terrassa, Spain.ORCID 0000-0002-8537-3935
Monica Diez-FairenFundació Docència i Recerca MútuaTerrassa, 08221 Terrassa, Spain.
Raul Nuñez LlavesResearch Center and Memory Clinic, Ace Alzheimer Center Barcelona, Universitat Internacional de Catalunya, 08017 Barcelona, Spain.
Claudia Olivé RoigResearch Center and Memory Clinic, Ace Alzheimer Center Barcelona, Universitat Internacional de Catalunya, 08017 Barcelona, Spain.ORCID 0000-0002-9438-5639
Guillermo Garcia-RibasHospital Universitario Ramon y Cajal, IRYCIS, 28034 Madrid, Spain.
Manuel Menéndez-GonzálezServicio de Neurología, Hospital Universitario Central de Asturias, 33011 Oviedo, Spain.ORCID 0000-0002-5218-0774
Carmen MartínezInstituto de Investigación Sanitaria del Principado de Asturias (ISPA), 33011 Asturias, Spain.
Miquel AguilarFundació Docència i Recerca MútuaTerrassa, 08221 Terrassa, Spain.
Mariateresa BuongiornoFundació Docència i Recerca MútuaTerrassa, 08221 Terrassa, 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, 41013 Sevilla, Spain.
Maria Eugenia SaezCAEBI, Centro Andaluz de Estudios Bioinformáticos, 41013 Sevilla, Spain.ORCID 0000-0001-9299-2534
Amanda CanoResearch Center and Memory Clinic, Ace Alzheimer Center Barcelona, Universitat Internacional de Catalunya, 08017 Barcelona, Spain.
Maria J BullidoCIBERNED, Network Center for Biomedical Research in Neurodegenerative Diseases, National Institute of Health Carlos III, 28220 Madrid, Spain.ORCID 0000-0002-6477-1117
Luis Miguel RealUnidad Clínica de Enfermedades Infecciosas y Microbiología, Hospital Universitario de Valme, 41013 Sevilla, Spain.ORCID 0000-0003-4932-7429
Eloy Rodríguez-RodríguezCIBERNED, Network Center for Biomedical Research in Neurodegenerative Diseases, National Institute of Health Carlos III, 28220 Madrid, Spain.
Jose Luís RoyoDepatamento de Especialidades Quirúrgicas, Bioquímica e Inmunología, Facultad de Medicina, Universidad de Málaga, 29016 Málaga, Spain.
Victoria ÁlvarezInstituto de Investigación Sanitaria del Principado de Asturias (ISPA), 33011 Asturias, Spain.ORCID 0000-0002-1916-2523
Pau PastorFundació Docència i Recerca MútuaTerrassa, 08221 Terrassa, Spain.
Gerard Piñol-RipollUnitat Trastorns Cognitius, Hospital Universitari Santa Maria de Lleida, 25198 Lleida, Spain.ORCID 0000-0002-4495-2113
Pablo MirCIBERNED, Network Center for Biomedical Research in Neurodegenerative Diseases, National Institute of Health Carlos III, 28220 Madrid, Spain.ORCID 0000-0003-1656-302X
Miguel Calero LaraCIBERNED, Network Center for Biomedical Research in Neurodegenerative Diseases, National Institute of Health Carlos III, 28220 Madrid, Spain.ORCID 0000-0001-5366-3324
Miguel Medina PadillaCIBERNED, Network Center for Biomedical Research in Neurodegenerative Diseases, National Institute of Health Carlos III, 28220 Madrid, Spain.ORCID 0000-0002-7016-5340
Pascual Sánchez-JuanCIBERNED, Network Center for Biomedical Research in Neurodegenerative Diseases, National Institute of Health Carlos III, 28220 Madrid, Spain.
Angel CarracedoGrupo de Medicina Xenómica, Centro Nacional de Genotipado (CEGEN-PRB3-ISCIII), Universidade de Santiago de Compostela, 15705 Santiago de Compostela, Spain.ORCID 0000-0003-1085-8986
Sergi ValeroResearch Center and Memory Clinic, Ace Alzheimer Center Barcelona, Universitat Internacional de Catalunya, 08017 Barcelona, Spain.
Isabel HernandezResearch Center and Memory Clinic, Ace Alzheimer Center Barcelona, Universitat Internacional de Catalunya, 08017 Barcelona, Spain.
Lluis TàrragaResearch Center and Memory Clinic, Ace Alzheimer Center Barcelona, Universitat Internacional de Catalunya, 08017 Barcelona, Spain.
Alfredo RamirezDivision of Neurogenetics and Molecular Psychiatry, Department of Psychiatry and Psychotherapy, Medical Faculty, University of Cologne, 50937 Cologne, Germany.ORCID 0000-0003-4991-763X
Mercé BoadaResearch Center and Memory Clinic, Ace Alzheimer Center Barcelona, Universitat Internacional de Catalunya, 08017 Barcelona, Spain.
Agustín RuizResearch Center and Memory Clinic, Ace Alzheimer Center Barcelona, Universitat Internacional de Catalunya, 08017 Barcelona, Spain.ORCID 0000-0003-2633-2495
Instituto de Salud Carlos III · ESFundació ACE · ESUniversity Hospital Mútua de Terrassa · ESUniversity of Cologne · DEUniversidad de Cantabria · ESUniversidade de Santiago de Compostela · ESCentro Andaluz de Biología del Desarrollo · ESHospital Universitari de Santa Maria · ESHospital Universitario Central de Asturias · ESHospital Universitario De Cabueñes · ESHospital Universitario de Valme · ESInstituto de Biomedicina de Sevilla · ESInstituto Ramón y Cajal de Investigación Sanitaria · ESUniversidad de Málaga · ESUniversidad de Oviedo · ESUniversity of Bonn · DE
Funding
Centro de Investigación Biomédica en Red CNV-304-PRF-866Instituto de Salud Carlos III FI20/00215Instituto de Salud Carlos III PI13/02434Instituto de Salud Carlos III PI16/01861Instituto de Salud Carlos III PI17/01474Instituto de Salud Carlos III PI19/01240Instituto de Salud Carlos III PI19/01301JPco-fuND FP-829-029Ministerio Español de Ciencia, Innovación y Universidades FJC2018-036012-I
Abstract
Mosaic loss of chromosome Y (mLOY) is a common ageing-related somatic event and has been previously associated with Alzheimer's disease (AD). However, mLOY estimation from genotype microarray data only reflects the mLOY degree of subjects at the moment of DNA sampling. Therefore, mLOY phenotype associations with AD can be severely age-confounded in the context of genome-wide association studies. Here, we applied Mendelian randomisation to construct an age-independent mLOY polygenic risk score (mloy-PRS) using 114 autosomal variants. The mloy-PRS instrument was associated with an 80% increase in mLOY risk per standard deviation unit (
Indexed as
Alzheimer DiseaseCognitive DysfunctionAmyloid beta-PeptidesBiomarkersChromosomes, Human, YFemaleGenome-Wide Association StudyHumansMaleMosaicismRisk Factorstau ProteinsAmyloid beta-PeptidesBiomarkerstau ProteinsAlzheimer’s diseaseCSF biomarkersdisease progressionEADBGR@ACE/DEGESCOGWASMendelian randomizationmild cognitive impairmentmosaic loss of chromosome Ypolygenic risk score
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