SynthesisTranslational psychiatry2019
Transethnic meta-analysis of rare coding variants in PLCG2, ABI3, and TREM2 supports their general contribution to Alzheimer's disease.
Open access · goldAbstract readMeta-Analysis
In one paragraph
Synthesis in Translational psychiatry, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
30citing papers in PubMed, 1 pooled it
3.6field-weighted citation impact, top 7% of its field
What it found
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Who cites it
30 citing papers in PubMed, 1 synthesis or guideline pooled it, 51 citations in OpenAlex.
- 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
- Comprehensive adjudication identifies 111 high-confidence loci for Alzheimer's disease and related dementias.medRxiv : the preprint server for health sciences · 2026Article
- PLCG2 signaling and genetic resilience in Alzheimer's disease.Molecular neurodegeneration · 2026Review
- Genetic validation of ABI3 p.Ser209Phe variant and its effects on early brain pathology in asymptomatic elderly individuals.Alzheimer's research & therapy · 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
- Genetics of PLCG2 expression and splicing relative to Alzheimer's disease risk.Molecular neurodegeneration advances · 2026Article
- Amyloid-Related Imaging Abnormality (ARIA) Beyond the APOE-ε4 Allele.Chronic diseases and translational medicine · 2025Review
- A high-throughput assay platform to discover small molecule activators of the phospholipase PLC-γ2 to treat Alzheimer's disease.The Journal of biological chemistry · 2025Article
- The crystal and cryo-EM structures of PLCγ2 reveal dynamic interdomain recognitions in autoinhibition.Science advances · 2024Article
- Article
- A guide to selecting high-performing antibodies for PLC-gamma-2 for use in Western Blot, immunoprecipitation and immunofluorescence.F1000Research · 2024Article
- Microglial function, INPP5D/SHIP1 signaling, and NLRP3 inflammasome activation: implications for Alzheimer's disease.Molecular neurodegeneration · 2023Review
- Admixture mapping implicates 13q33.3 as ancestry-of-origin locus for Alzheimer disease in Hispanic and Latino populations.HGG advances · 2023Article
- Step by step: towards a better understanding of the genetic architecture of Alzheimer's disease.Molecular psychiatry · 2023Review
- A novel fluorogenic reporter substrate for 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2 (PLCγ2): Application to high-throughput screening for activators to treat Alzheimer's disease.SLAS discovery : advancing life sciences R & D · 2023Article
- Identification and Quantitation of NovelGenes · 2022Article
- Challenge accepted: uncovering the role of rare genetic variants in Alzheimer's disease.Molecular neurodegeneration · 2022Review
- PLCγ2 impacts microglia-related effectors revealing variants and pathways important in Alzheimer's disease.Frontiers in cell and developmental biology · 2022Review
- Effect ofNature aging · 2021Article
- Alternative Splicing Regulation of Low-Frequency Genetic Variants in Exon 2 ofInternational journal of molecular sciences · 2021Article
Corrections and comments
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Authors and funding
54 authors at 20 institutions in 7 countries.
Maria Carolina DalmassoLaboratory of Amyloidosis and Neurodegeneration, Fundación Instituto Leloir-IIBBA-CONICET, Ciudad Autónoma de Buenos Aires (C.A.B.A.), Buenos Aires, Argentina.
Luis Ignacio BruscoCentro de Neuropsiquiatría y Neurología de la Conducta (CENECON), Facultad de Medicina, Universidad de Buenos Aires (UBA), C.A.B.A, Buenos Aires, Argentina.
Natividad OlivarCentro de Neuropsiquiatría y Neurología de la Conducta (CENECON), Facultad de Medicina, Universidad de Buenos Aires (UBA), C.A.B.A, Buenos Aires, Argentina.
Carolina MuchnikLaboratorio de Bioquímica Molecular, Facultad de Medicina, Instituto de Investigaciones Médicas A. Lanari, UBA, C.A.B.A, Buenos Aires, Argentina.
Claudia HansesDepartment of Psychiatry and Psychotherapy, University of Bonn, 53127, Bonn, Germany.
Esther MilzDivision of Neurogenetics and Molecular Psychiatry, Department of Psychiatry and Psychotherapy, University of Cologne, 50937, Cologne, Germany.
Julian BeckerDepartment of Psychiatry and Psychotherapy, University of Bonn, 53127, Bonn, Germany.
Stefanie Heilmann-HeimbachInstitute of Human Genetics, University of Bonn, School of Medicine & University Hospital, 53127, Bonn, Germany.
Per HoffmannInstitute of Human Genetics, University of Bonn, School of Medicine & University Hospital, 53127, Bonn, Germany.ORCID http://orcid.org/0000-0002-6573-983X
Federico A PrestiaLaboratory of Amyloidosis and Neurodegeneration, Fundación Instituto Leloir-IIBBA-CONICET, Ciudad Autónoma de Buenos Aires (C.A.B.A.), Buenos Aires, Argentina.
Pablo GaleanoLaboratory of Amyloidosis and Neurodegeneration, Fundación Instituto Leloir-IIBBA-CONICET, Ciudad Autónoma de Buenos Aires (C.A.B.A.), Buenos Aires, Argentina.ORCID http://orcid.org/0000-0003-4491-2039
Mariana Soledad Sanchez AvalosMinisterio de Salud de la Provincia de Jujuy, Programa del Adulto Mayor, San Salvador de Jujuy, Jujuy, Argentina.
Luis Eduardo MartinezHospital Interzonal General de Agudos Eva Perón, San Martín, Buenos Aires, Argentina.
Mariana Estela CarullaHospital Interzonal General de Agudos Eva Perón, San Martín, Buenos Aires, Argentina.
Pablo Javier AzurmendiLaboratorio de Bioquímica Molecular, Facultad de Medicina, Instituto de Investigaciones Médicas A. Lanari, UBA, C.A.B.A, Buenos Aires, Argentina.ORCID http://orcid.org/0000-0001-7787-5882
Cynthia LiberczukCentro de Neuropsiquiatría y Neurología de la Conducta (CENECON), Facultad de Medicina, Universidad de Buenos Aires (UBA), C.A.B.A, Buenos Aires, Argentina.
Cristina FezzaLaboratorio de Bioquímica Molecular, Facultad de Medicina, Instituto de Investigaciones Médicas A. Lanari, UBA, C.A.B.A, Buenos Aires, Argentina.
Marcelo SampañoCentro de Neuropsiquiatría y Neurología de la Conducta (CENECON), Facultad de Medicina, Universidad de Buenos Aires (UBA), C.A.B.A, Buenos Aires, Argentina.
Maria FierensCentro de Neuropsiquiatría y Neurología de la Conducta (CENECON), Facultad de Medicina, Universidad de Buenos Aires (UBA), C.A.B.A, Buenos Aires, Argentina.
Guillermo JemarCentro de Neuropsiquiatría y Neurología de la Conducta (CENECON), Facultad de Medicina, Universidad de Buenos Aires (UBA), C.A.B.A, Buenos Aires, Argentina.
Patricia SolisNeurosciences and Complex Systems Unit (EnyS), CONICET, Hospital El Cruce "Dr. Néstor Kirchner", Univ Arturo Jauretche, F. Varela, Buenos Aires, Argentina.
Nancy MedelNeurosciences and Complex Systems Unit (EnyS), CONICET, Hospital El Cruce "Dr. Néstor Kirchner", Univ Arturo Jauretche, F. Varela, Buenos Aires, Argentina.
Julieta LissoNeurosciences and Complex Systems Unit (EnyS), CONICET, Hospital El Cruce "Dr. Néstor Kirchner", Univ Arturo Jauretche, F. Varela, Buenos Aires, Argentina.
Zulma SevillanoNeurosciences and Complex Systems Unit (EnyS), CONICET, Hospital El Cruce "Dr. Néstor Kirchner", Univ Arturo Jauretche, F. Varela, Buenos Aires, Argentina.
Paolo BoscoInstituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Associazione Oasi Maria Santissima Srl, Troina, Italy.
Paola BossùDepartment of Clinical and Behavioural Neurology, Experimental Neuropsychobiology Laboratory, Rome, Italy.
Gianfranco SpallettaDepartment of Clinical and Behavioural Neurology, Neuropsychiatry Laboratory, IRCCS Santa Lucia Foundation, Rome, Italy.
Daniela GalimbertiNeurodegenerative Diseases Center, University of Milan, Centro Dino Ferrari, Fondazione Ca' Granda, IRCCS Ospedale Maggiore Policlinico, Milan, Italy.
Michelangelo MancusoDepartment of Experimental and Clinical Medicine, Neurological Institute, University of Pisa, Pisa, Italy.
Benedetta NacmiasNEUROFARBA (Department of Neuroscience, Psychology, Drug Research and Child Health), University of Florence, Florence, Italy.
Sandro SorbiNEUROFARBA (Department of Neuroscience, Psychology, Drug Research and Child Health), University of Florence, Florence, Italy.
Patrizia MecocciSection of Gerontology and Geriatrics, Department of Medicine, University of Perugia, Perugia, Italy.
Alberto PilottoGeriatric Unit and Gerontology-Geriatrics Research Laboratory, Department of Medical Sciences, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
Paolo CaffarraSection of Neuroscience, DIMEC, University of Parma, Parma, Italy.
Francesco PanzaNeurodegenerative Disease Unit, Department of Basic Medicine, Neuroscience, and Sense Organs, University of Bari Aldo Moro, Bari, Italy.ORCID http://orcid.org/0000-0002-7220-0656
Maria BullidoInstituto de Investigación Sanitaria Hospital la Paz (IdiPAZ), Madrid, Spain.
Jordi ClarimonCentro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III, Madrid, Spain.
Pascual Sánchez-JuanNeurology Service and CIBERNED, 'Marqués de Valdecilla' University Hospital (University of Cantabria and IDIVAL), Santander, Spain.
Eliecer CotoMolecular Genetics Laboratory-Hospital, University of Central Asturias, Oviedo, Spain.
Florentino Sanchez-GarciaImmunology Service, Hospital Universitario de Gran Canaria Doctor Negrín, Las Palmas de Gran Canaria, Spain.
Caroline GraffGenetics Unit, Theme Aging, Karolinska University Hospital, Solna, Sweden.
Martin IngelssonDepartment of Public Health/Geriatrics, Uppsala University, Uppsala, Sweden.
Céline BellenguezINSERM, U1167, RID-AGE-Risk Factors and Molecular Determinants of Aging-Related Diseases, F-59000, Lille, France.ORCID http://orcid.org/0000-0002-1240-7874
Eduardo Miguel CastañoLaboratory of Amyloidosis and Neurodegeneration, Fundación Instituto Leloir-IIBBA-CONICET, Ciudad Autónoma de Buenos Aires (C.A.B.A.), Buenos Aires, Argentina.
Claudia KairiyamaHospital Interzonal General de Agudos Eva Perón, San Martín, Buenos Aires, Argentina.
Daniel Gustavo PolitisHospital Interzonal General de Agudos Eva Perón, San Martín, Buenos Aires, Argentina.
Silvia KochenNeurosciences and Complex Systems Unit (EnyS), CONICET, Hospital El Cruce "Dr. Néstor Kirchner", Univ Arturo Jauretche, F. Varela, Buenos Aires, Argentina.
Horacio ScaroMinisterio de Salud de la Provincia de Jujuy, Programa del Adulto Mayor, San Salvador de Jujuy, Jujuy, Argentina.
Wolfgang MaierGerman Center for Neurodegenerative Diseases (DZNE), 53127, Bonn, Germany.
Frank JessenGerman Center for Neurodegenerative Diseases (DZNE), 53127, Bonn, Germany.
Carlos Alberto MangoneCentro de Neuropsiquiatría y Neurología de la Conducta (CENECON), Facultad de Medicina, Universidad de Buenos Aires (UBA), C.A.B.A, Buenos Aires, Argentina.
Jean-Charles LambertINSERM, U1167, RID-AGE-Risk Factors and Molecular Determinants of Aging-Related Diseases, F-59000, Lille, France.ORCID http://orcid.org/0000-0003-0829-7817
Laura MorelliLaboratory of Amyloidosis and Neurodegeneration, Fundación Instituto Leloir-IIBBA-CONICET, Ciudad Autónoma de Buenos Aires (C.A.B.A.), Buenos Aires, Argentina. lmorelli@leloir.org.ar.
Alfredo RamirezDivision of Neurogenetics and Molecular Psychiatry, Department of Psychiatry and Psychotherapy, University of Cologne, 50937, Cologne, Germany. alfredo.ramirez@uk-koeln.de.ORCID http://orcid.org/0000-0003-4991-763X
Consejo Nacional de Investigaciones Científicas y Técnicas · ARUniversidad de Buenos Aires · ARUniversity of Bonn · DEInstitute for Medical Research · ARInserm · FRMinisterio de Salud · ARUniversity of Cologne · DECasa Sollievo della Sofferenza · ITDon Carlo Gnocchi Foundation · ITFondazione Santa Lucia · ITHospital Universitario Central de Asturias · ESHospital Universitario de Gran Canaria Doctor Negrín · ESInstituto de Salud Carlos III · ESKarolinska University Hospital · SEOasi Maria SS · ITUniversidad de Cantabria · ESUniversitat Autònoma de Barcelona · ESUniversity of Bari Aldo Moro · ITUniversity of Florence · ITUniversity of Milan · IT
Funding
No grant is acknowledged in the PubMed record.
Abstract
Rare coding variants in TREM2, PLCG2, and ABI3 were recently associated with the susceptibility to Alzheimer's disease (AD) in Caucasians. Frequencies and AD-associated effects of variants differ across ethnicities. To start filling the gap on AD genetics in South America and assess the impact of these variants across ethnicity, we studied these variants in Argentinian population in association with ancestry. TREM2 (rs143332484 and rs75932628), PLCG2 (rs72824905), and ABI3 (rs616338) were genotyped in 419 AD cases and 486 controls. Meta-analysis with European population was performed. Ancestry was estimated from genome-wide genotyping results. All variants show similar frequencies and odds ratios to those previously reported. Their association with AD reach statistical significance by meta-analysis. Although the Argentinian population is an admixture, variant carriers presented mainly Caucasian ancestry. Rare coding variants in TREM2, PLCG2, and ABI3 also modulate susceptibility to AD in populations from Argentina, and they may have a European heritage.
Indexed as
Adaptor Proteins, Signal TransducingAgedAged, 80 and overAlzheimer DiseaseArgentinaBlack PeopleFemaleGenetic Predisposition to DiseaseGenetic VariationGenome-Wide Association StudyGenotypeHumansIndians, North AmericanMaleMembrane GlycoproteinsMiddle AgedABI3 protein, humanAdaptor Proteins, Signal TransducingMembrane GlycoproteinsPhospholipase C gammaReceptors, ImmunologicTREM2 protein, human
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