Transethnic meta-analysis of rare coding variants in PLCG2, ABI3, and TREM2 supports their general contribution to Alzheimer’s disease
Open accessAbstract
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.
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Loci associated with Alzheimer's disease risk are enriched in genes expressed in microglia.
“Recent genetic studies on Alzheimer’s disease (AD) have brought microglia under the spotlight, as loci associated with AD risk are enriched in genes expressed in microglia.”
From Microglial function, INPP5D/SHIP1 signaling, and NLRP3 inflammasome activation: implications for Alzheimer’s disease (2023) · cites this paper as [4]
The Introduction (page not provided) says four rare AD-associated variants are involved in microglial-mediated innate immunity, supporting a link between AD genetics and microglia. It does not report that AD-risk loci are enriched in genes expressed in microglia; that broader enrichment claim is unsupported by this paper's text. (LLM, conf=0.84)
Experimental — accuracy not yet measuredOver 70 loci are associated with conferring risk for late-onset Alzheimer's disease.
“In recent years, genome wide association studies (GWASs) and analyses of rare-coding variants have identified over 70 loci associated with conferring risk for late-onset AD (LOAD).”
From Microglial function, INPP5D/SHIP1 signaling, and NLRP3 inflammasome activation: implications for Alzheimer’s disease (2023) · cites this paper as [4]
The Introduction (page unavailable) says that more than 20 loci containing common variants have been associated with Alzheimer’s disease and that several rare variants affect susceptibility. It supports the general association, but does not support the claimed total of over 70 loci or specify that total for late-onset disease. (LLM, conf=0.86)
Experimental — accuracy not yet measuredThe initial genetic results for P522R and decreased AD risk were replicated by various independent cohorts.
“The initial genetic results were replicated by various independent cohorts (160, 161, 162).”
From The role of PLCγ2 in immunological disorders, cancer, and neurodegeneration (2021) · cites this paper as [162]
The Results report that PLCG2 p.P522R had the same protective direction as the initial IGAP finding in the Argentinian sample and in the European meta-analysis. But the Argentinian result was not statistically significant, nor was the European result alone (Table 3); only the combined analysis reached the reported threshold. The paper therefore supports consistency across populations, not a clear replication by various independent cohorts. (LLM, conf=0.86)
Experimental — accuracy not yet measuredRare variants in PLCG2 and ABI3 have been associated with disease risk.
“For example, rare variants in PLCG2 and ABI3 have been associated with disease risk [130, 141].”
From Genetic architecture of Alzheimer's disease (2020) · cites this paper as [141]
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- Authors
- Dalmasso, M. C., Brusco, L. I., Olivar, N., Muchnik, C., Hanses, C., Milz, E., Becker, J., Heilmann-Heimbach, S., Hoffmann, P., Prestia, F. A., Galeano, P., Avalos, M. S. S., Martinez, L. E., Carulla, M. E., Azurmendi, P. J., Liberczuk, C., Fezza, C., Sampaño, M., Fierens, M., Jemar, G., Solis, P., Medel, N., Lisso, J., Sevillano, Z., Bosco, P., Bossù, P., Spalletta, G., Galimberti, D., Mancuso, M., Nacmias, B., Sorbi, S., Mecocci, P., Pilotto, A., Caffarra, P., Panza, F., Bullido, M., Clarimon, J., Sánchez-Juan, P., Coto, E., Sanchez-Garcia, F., Graff, C., Ingelsson, M., Bellenguez, C., Castaño, E. M., Kairiyama, C., Politis, D. G., Kochen, S., Scaro, H., Maier, W., Jessen, F., Mangone, C. A., Lambert, J.-C., Morelli, L., & Ramirez, A.
- Affiliations
- Consejo Nacional de Investigaciones Científicas y Técnicas (AR)
- Universidad de Buenos Aires (AR)
- University of Bonn (DE)
- University of Cologne (DE)
- Oasi Maria SS (IT)
- Fondazione Santa Lucia (IT)
- University of Milan (IT)
- University of Pisa (IT)
- University of Florence (IT)
- University of Perugia (IT)
- Casa Sollievo della Sofferenza (IT)
- University of Parma (IT)
- University of Bari Aldo Moro (IT)
- Consejo Superior de Investigaciones Científicas (ES)
- Karolinska University Hospital (SE)
- Uppsala University (SE)
- Inserm (FR)
- Ministerio de Salud (AR)
- Corresponding author
- Morelli, Laura
- ORCID
- Brusco, Luis Ignacio
- Olivar, Natividad
- Muchnik, Carolina
- Hoffmann, Per
- Galeano, Pablo
- Azurmendi, Pablo Javier
- Solis, Patricia
- Medel, Nancy
- Bosco, Paolo
- Bossù, Paola
- Spalletta, Gianfranco
- Galimberti, Daniela
- Mancuso, Michelangelo
- Nacmias, Benedetta
- Sorbi, Sandro
- Mecocci, Patrizia
- Caffarra, Paolo
- Panza, Francesco
- Bullido, Maria
- Graff, Caroline
- Ingelsson, Martin
- Bellenguez, Céline
- Kairiyama, Claudia
- Politis, Daniel Gustavo
- Kochen, Silvia
- Jessen, Frank
- Lambert, Jean-Charles
- Morelli, Laura
- Ramirez, Alfredo
- Venue
- Translational Psychiatry
- Published
- 2019-01-31
- Volume
- 9
- Issue
- 1
- Pages
- 55-55
- ISSN
- 2158-3188 (ISSN-L)
- PMC
- PMC6355764
- OpenAlex
- W2913240459
- Cited by
- 51
- References
- 23
- Citations by year
- 2026: 4 · 2025: 5 · 2024: 3 · 2023: 6 · 2022: 8 · 2021: 8 · 2020: 10 · 2019: 6 · 2018: 1
- FWCI
- 0.94
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Locations
- Translational Psychiatry (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, other-oa)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- LA Referencia (Red Federada de Repositorios Institucionales de Publicaciones Científicas) (publishedVersion)
- LA Referencia (Red Federada de Repositorios Institucionales de Publicaciones Científicas) (publishedVersion, cc-by)
- Kölner Universitäts PublikationsServer (Universität zu Köln) (acceptedVersion)
- Dipòsit Digital de Documents de la UAB (Universitat Autònoma de Barcelona) (submittedVersion, cc-by)
- Florence Research (University of Florence) (submittedVersion, other-oa)
- Uppsala University Publications (Uppsala University) (submittedVersion, other-oa)
- HAL (submittedVersion)
- Archivio Istituzionale della Ricerca (Universita Degli Studi Di Milano) (submittedVersion, other-oa)
- CINECA IRIS Institutial research information system (University of Pisa) (submittedVersion)
- DIGITAL.CSIC (Spanish National Research Council (CSIC)) (submittedVersion, cc-by)
- LA Referencia (Red Federada de Repositorios Institucionales de Publicaciones Científicas) (submittedVersion, cc-by)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion)
- Hispana (submittedVersion)
- LillOA (Université de Lille (University Of Lille)) (submittedVersion, other-oa)
- DZNE Pub (submittedVersion, other-oa)
- Biblos-e Archivo (Universidad Autónoma de Madrid) (submittedVersion, public-domain)
- UCrea (University of Cantabria) (submittedVersion, cc-by)
- Conicet (submittedVersion, cc-by-nc-sa)
- CINECA IRIS Institutional Research Information System (University of Bari Aldo Moro) (submittedVersion, cc-by)
- Funders
- Bundesministerium für Bildung und Forschung (01ED1619A)
- Alexander von Humboldt-Stiftung (Georg Forster Research Award)
- Ministry of Science, Technology and Productive Innovation, Argentina | Agencia Nacional de Promoción Científica y Tecnológica (PICT-2014-1537, PICT-2015-0285, PICT-2016-4647)
- Ministry of Science, Technology and Productive Innovation, Argentina | National Agency for Science and Technology, Argentina | Fondo para la Investigación Científica y Tecnológica (PBIT/09 2013)
- Topics
- Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
- Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- Alzheimer's disease, rare coding variants, TREM2, PLCγ2, ABI3, genetic susceptibility, admixture, ancestry, European ancestry
- MeSH terms
- Aged, Aged, 80 and over, Alzheimer Disease, Argentina, Female, Genotype, Humans, Indians, North American, Male, Membrane Glycoproteins, Middle Aged, Receptors, Immunologic, Genetic Variation, Genetic Predisposition to Disease, Black People, White People, Adaptor Proteins, Signal Transducing, Phospholipase C gamma, Genome-Wide Association Study
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