SynthesisAlzheimer's & dementia : the journal of the Alzheimer's Association2024
The first genome-wide association study in the Argentinian and Chilean populations identifies shared genetics with Europeans in Alzheimer's disease.
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In one paragraph
Synthesis in Alzheimer's & dementia : the journal of the Alzheimer's Association, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 2 of them syntheses that pooled it.
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18citing papers in PubMed, 2 pooled it
6.3field-weighted citation impact, top 3% of its field
What it found
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Who cites it
18 citing papers in PubMed, 2 syntheses or guidelines pooled it, 20 citations in OpenAlex.
- Consensus meta-analysis of genome-wide association studies for Alzheimer's disease and related dementias.Nature genetics · 2026Pooled it
- The first genome-wide association study in the Argentinian and Chilean populations identifies shared genetics with Europeans in Alzheimer's disease.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2024Pooled it
- Genetic architecture of white matter microstructure captured by unsupervised deep representation learning of fractional anisotropy maps.Nature communications · 2026Article
- Genome-Wide and Locus-Level Analyses Reveal Modest, Heterogeneous Genetic Sharing Between Alzheimer's Disease and Myasthenia Gravis.International journal of molecular sciences · 2026Article
- Plasma ATN biomarkers across the alzheimer's disease continuum in a Chilean community- and clinic-based cohort.Alzheimer's research & therapy · 2026Article
- Alterations in the brain lipidome of Alzheimer's disease donors with rareBrain communications · 2026Article
- Diagnostic and treatment strategies in a memory clinic for older adults in a region with a predominantly low-income population.Frontiers in dementia · 2026Article
- Progression to Parkinson's dementia is not modulated by genetic risk variants for Alzheimer's or Parkinson's disease.Journal of Parkinson's disease · 2025Article
- Consensus meta-analysis of genome-wide association studies for Alzheimer's disease and related dementia.medRxiv : the preprint server for health sciences · 2025Article
- Unveiling genetic architecture of white matter microstructure through unsupervised deep representation learning of fractional anisotropy maps.Research square · 2025Article
- Recent Advances and Future Directions in Alzheimer's Disease Genetic Research.International journal of molecular sciences · 2025Review
- Transferability of European-derived Alzheimer's disease polygenic risk scores across multiancestry populations.Nature genetics · 2025Article
- From Serendipity to Precision: Integrating AI, Multi-Omics, and Human-Specific Models for Personalized Neuropsychiatric Care.Biomedicines · 2025Review
- A hypergraph neural network for prioritizing Alzheimer's disease risk genes.Frontiers in genetics · 2025Article
- LIMO-GCN: a linear model-integrated graph convolutional network for predicting Alzheimer disease genes.Briefings in bioinformatics · 2024Article
- Unraveling the Genetic Landscape of Neurological Disorders: Insights into Pathogenesis, Techniques for Variant Identification, and Therapeutic Approaches.International journal of molecular sciences · 2024Review
- The genetic association between bipolar disorder and dementia: a qualitative review.Frontiers in psychiatry · 2024Review
- Geospatial and temporal disparities in Alzheimer's disease deaths in Argentina.Journal of Alzheimer's disease reportsArticle
Corrections and comments
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Authors and funding
47 authors at 19 institutions in 7 countries.
Maria Carolina DalmassoStudies in Neuroscience and Complex Systems Unit-CONICET-HEC-UNAJ, Florencio Varela, Argentina.ORCID 0000-0002-4901-9955
Itziar de RojasResearch Center and Memory Clinic, Ace Alzheimer Center Barcelona - Universitat Internacional de Catalunya, Barcelona, Spain.
Natividad OlivarCenter of Neuropsychiatry and Neurology of Behavior, School of Medicine, University of Buenos Aires, Buenos Aires, Argentina.
Carolina MuchnikCenter of Neuropsychiatry and Neurology of Behavior, School of Medicine, University of Buenos Aires, Buenos Aires, Argentina.
Bárbara AngelPublic Health Nutrition Unit, Institute of Nutrition and Food Technology, University of Chile, Santiago, Chile.
Sergio GlogerBiomedica Research Group, Centro de Estudios Clínicos, Santiago, Chile.
Mariana Soledad Sanchez AbalosServicio de Diabetes y Metabolismo, Hospital Regional de Ushuaia, Ushuaia, Argentina.
María Victoria ChacónBiomedica Research Group, Centro de Estudios Clínicos, Santiago, Chile.
Rafael AránguizBiomedica Research Group, Centro de Estudios Clínicos, Santiago, Chile.
Paulina OrellanaGeroscience Center for Brain Health and Metabolism, Santiago, Chile.
Carolina CuestaHospital Interzonal General de Agudos-Eva Perón, San Martín, Argentina.
Pablo GaleanoLaboratory of Brain Aging and Neurodegeneration, Fundacion Instituto Leloir-IIBBA, Buenos Aires, Argentina.
Lorenzo CampanelliLaboratory of Brain Aging and Neurodegeneration, Fundacion Instituto Leloir-IIBBA, Buenos Aires, Argentina.
Gisela Vanina NovackLaboratory of Brain Aging and Neurodegeneration, Fundacion Instituto Leloir-IIBBA, Buenos Aires, Argentina.
Luis Eduardo MartinezHospital Interzonal General de Agudos-Eva Perón, San Martín, Argentina.
Nancy MedelStudies in Neuroscience and Complex Systems Unit-CONICET-HEC-UNAJ, Florencio Varela, Argentina.
Julieta LissoStudies in Neuroscience and Complex Systems Unit-CONICET-HEC-UNAJ, Florencio Varela, Argentina.
Zulma SevillanoStudies in Neuroscience and Complex Systems Unit-CONICET-HEC-UNAJ, Florencio Varela, Argentina.
Nicolás IruretaStudies in Neuroscience and Complex Systems Unit-CONICET-HEC-UNAJ, Florencio Varela, Argentina.
Eduardo Miguel CastañoLaboratory of Brain Aging and Neurodegeneration, Fundacion Instituto Leloir-IIBBA, Buenos Aires, Argentina.
Laura MontrrealResearch Center and Memory Clinic, Ace Alzheimer Center Barcelona - Universitat Internacional de Catalunya, Barcelona, Spain.
Michaela ThoenesDivision of Neurogenetics and Molecular Psychiatry, Department of Psychiatry and Psychotherapy, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
Claudia HansesDepartment of Psychiatry and Psychotherapy, University Hospital of Bonn, Bonn, Germany.
Stefanie Heilmann-HeimbachInstitute of Human Genetics, University Hospital of Bonn & University of Bonn, Bonn, Germany.
Claudia KairiyamaHospital Interzonal General de Agudos-Eva Perón, San Martín, Argentina.
Inés MintzStudies in Neuroscience and Complex Systems Unit-CONICET-HEC-UNAJ, Florencio Varela, Argentina.
Ivana VillellaStudies in Neuroscience and Complex Systems Unit-CONICET-HEC-UNAJ, Florencio Varela, Argentina.
Fabiana RuedaImaging Diagnostics Service, Hospital El Cruce, Florencio Varela, Argentina.
Amanda RomeroImaging Diagnostics Service, Hospital El Cruce, Florencio Varela, Argentina.
Nancy WukitsevitsAsistencia Medica Integral, Hospital El Cruce, Florencio Varela, Argentina.
Ivana QuirogaAsistencia Medica Integral, Hospital El Cruce, Florencio Varela, Argentina.
Cristian GonaAsistencia Medica Integral, Hospital El Cruce, Florencio Varela, Argentina.
Jean-Charles LambertUniversité de Lille, INSERM, CHU Lille, Institut Pasteur Lille, U1167-RID-AGE, Facteurs de risque et déterminants moléculaires des maladies liées au vieillissement, Lille, France.
Patricia SolisStudies in Neuroscience and Complex Systems Unit-CONICET-HEC-UNAJ, Florencio Varela, Argentina.
Daniel Gustavo PolitisHospital Interzonal General de Agudos-Eva Perón, San Martín, Argentina.
Carlos Alberto MangoneHospital General de Agudos Donación Francisco Santojanni, Buenos Aires, Argentina.
Christian Gonzalez-BillaultGeroscience Center for Brain Health and Metabolism, Santiago, Chile.
Mercè BoadaResearch Center and Memory Clinic, Ace Alzheimer Center Barcelona - Universitat Internacional de Catalunya, Barcelona, Spain.
Lluís TàrragaResearch Center and Memory Clinic, Ace Alzheimer Center Barcelona - Universitat Internacional de Catalunya, Barcelona, Spain.
Andrea SlachevskyFaculty of Sciences, University of Chile, Santiago, Chile.
Cecilia AlbalaPublic Health Nutrition Unit, Institute of Nutrition and Food Technology, University of Chile, Santiago, Chile.
Patricio FuentesGeriatrics Section Clinical Hospital University of Chile, Santiago, Chile.
Silvia KochenStudies in Neuroscience and Complex Systems Unit-CONICET-HEC-UNAJ, Florencio Varela, Argentina.
Luis Ignacio BruscoCenter of Neuropsychiatry and Neurology of Behavior, School of Medicine, University of Buenos Aires, Buenos Aires, Argentina.
Agustín RuizResearch Center and Memory Clinic, Ace Alzheimer Center Barcelona - Universitat Internacional de Catalunya, Barcelona, Spain.
Laura MorelliLaboratory of Brain Aging and Neurodegeneration, Fundacion Instituto Leloir-IIBBA, Buenos Aires, Argentina.
Alfredo RamírezDivision of Neurogenetics and Molecular Psychiatry, Department of Psychiatry and Psychotherapy, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.ORCID 0000-0003-4991-763X
Consejo Nacional de Investigaciones Científicas y Técnicas · ARFundación Instituto Leloir · ARHospital El Cruce · ARInstituto de Salud Carlos III · ESNational University of General San Martín · ARCenter for Climate and Resilience Research · CLUniversidad de Buenos Aires · ARCentro de Estudios Científicos · CLUniversity of Bonn · DEAdolfo Ibáñez University · CLDahua Hospital · CNFundació ACE · ESHospital del Salvador · CLHospital Donación Francisco Santojanni · ARInserm · FRUniversidad del Desarrollo · CLUniversity Hospital Bonn · DEUniversity of Chile · CLUniversity of Cologne · DE
Funding
Agencia Nacional de Promoción Científica y Tecnológica PIBT/09-2013Agencia Nacional de Promoción Científica y Tecnológica PICT-2016-4647Agencia Nacional de Promoción Científica y Tecnológica PICT2019-0656Agencia Nacional de Promoción Científica y Tecnológica PICTO-2021-UCTH00005Agencia Nacional de Promoción Científica y Tecnológica PICTO-2021-UCTH00006Agencia Nacional de Promoción Científica y Tecnológica PID-2011-0059Agencia Nacional de Promoción Científica y Tecnológica PUE060Alexander von Humboldt FoundationANID/FONDAP ID15150012Chilean National Fund for Science and Technology (FONDECYT) 1130947CONICETEuropean Innovative Research & Technological Development Projects in Nanomedicine AC17/00100European Union / EFPIA Innovative Medicines Initiative joint undertaking ADAPTED and MOPEAD 115975European Union / EFPIA Innovative Medicines Initiative joint undertaking ADAPTED and MOPEAD 115985European Union / EFPIA Innovative Medicines Initiative joint undertaking ADAPTED and MOPEAD PI13/02434European Union / EFPIA Innovative Medicines Initiative joint undertaking ADAPTED and MOPEAD PI16/01861European Union / EFPIA Innovative Medicines Initiative joint undertaking ADAPTED and MOPEAD PI17/01474European Union / EFPIA Innovative Medicines Initiative joint undertaking ADAPTED and MOPEAD PI19/01240European Union / EFPIA Innovative Medicines Initiative joint undertaking ADAPTED and MOPEAD PI19/01301European Union / EFPIA Innovative Medicines Initiative joint undertaking ADAPTED and MOPEAD PI22/01403German Federal Ministry of Education and Research BMBF: 01ED1619AInstituto de Salud Carlos III FI20/00215International Society for NeurochemistryISCIII-Subdirección General de Evaluación and the Fondo Europeo de Desarrollo Regional (FEDER-"Una manera de hacer Europa"JPco-fuND-2 "Multinational research projects on Personalized Medicine for Neurodegenerative Diseases," AC19/00097
Abstract
introductionGenome-wide association studies (GWAS) are fundamental for identifying loci associated with diseases. However, they require replication in other ethnicities.
methodsWe performed GWAS on sporadic Alzheimer's disease (AD) including 539 patients and 854 controls from Argentina and Chile. We combined our results with those from the European Alzheimer and Dementia Biobank (EADB) in a meta-analysis and tested their genetic risk score (GRS) performance in this admixed population.
resultsWe detected apolipoprotein E ε4 as the single genome-wide significant signal (odds ratio = 2.93 [2.37-3.63], P = 2.6 × 10 DISCUSSION: We report the first GWAS on AD in a population from South America. It shows shared genetics modulating AD risk between the European and these admixed populations. HIGHLIGHTS: This is the first genome-wide association study on Alzheimer's disease (AD) in a population sample from Argentina and Chile. Trans-ethnic meta-analysis reveals four new loci involving lysosomal function in AD. This is the first independent replication for TREM2L, IGH-gene-cluster, and ADAM17 loci. A genetic risk score (GRS) developed in Europeans performed well in this population. The higher the Native American ancestry the lower the GRS values.
Indexed as
Alzheimer DiseaseAzidesGenome-Wide Association StudyChileGenetic Predisposition to DiseaseHumansPolymorphism, Single NucleotideAzidesethyl 4-azidophenyl-1,4-dithiobutyrimidateadmixturegenetic risk scoregeneticsgenome-wide association studyHispanicLatin AmericaNative-American ancestrySouth America
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