Transethnic meta-analysis of rare coding variants in PLCG2, ABI3, and TREM2 supports their general contribution to Alzheimer’s disease
Year: 2019
Type: review
Study design: Observational Study
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.
Source: Translational Psychiatry
Authors: Maria Carolina Dalmasso, Luis Ignacio Brusco, Natividad Olivar, Carolina Muchnik, Claudia Hanses, Esther Milz, Julian Becker, Stefanie Heilmann-Heimbach, Per Hoffmann, Federico A. Prestia, Pablo Galeano, Mariana Soledad Sanchez Avalos, Luis Eduardo Martinez, Mariana Estela Carulla, Pablo Javier Azurmendi, Cynthia Liberczuk, Cristina Fezza, Marcelo Sampaño, Maria Fierens, Guillermo Jemar, Patricia Solis, Nancy Medel, Julieta Lisso, Zulma Sevillano, Paolo Bosco, Paola Bossù, Gianfranco Spalletta, Daniela Galimberti, Michelangelo Mancuso, Benedetta Nacmias, Sandro Sorbi, Patrizia Mecocci, Alberto Pilotto, Paolo Caffarra, Francesco Panza, Maria Bullido, Jordi Clarimon, Pascual Sánchez-Juan, Eliecer Coto, Florentino Sanchez-Garcia, Caroline Graff, Martin Ingelsson, Céline Bellenguez, Eduardo Miguel Castaño, Claudia Kairiyama, Daniel Gustavo Politis, Silvia Kochen, Horacio Scaro, Wolfgang Maier, Frank Jessen, Carlos Alberto Mangone, Jean-Charles Lambert, Laura Morelli, Alfredo Ramirez
Institutions: Consejo Nacional de Investigaciones Científicas y Técnicas, Fundación Instituto Leloir, Universidad de Buenos Aires, Institute for Medical Research, University of Bonn, University of Cologne, University Hospital Bonn, University of Basel, University Hospital of Basel, Ministerio de Salud, Hospital El Cruce, Oasi Maria SS, Fondazione Santa Lucia, University of Milan, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, University of Pisa, University of Florence, University of Perugia, Casa Sollievo della Sofferenza, University of Parma, Fondazione Europea Ricerca Biomedica, University of Bari Aldo Moro, Consejo Superior de Investigaciones Científicas, Instituto de Salud Carlos III, Biomedical Research Networking Center on Neurodegenerative Diseases, Hospital La Paz Institute for Health Research, Centro de Investigación Biomédica en Red, Centro de Biología Molecular Severo Ochoa, Universitat Autònoma de Barcelona, Hospital de Sant Pau, Universidad de Cantabria, Marqués de Valdecilla University Hospital, Instituto de Investigación Marqués de Valdecilla, Hospital Universitario Central de Asturias, Hospital Universitario de Gran Canaria Doctor Negrín, Karolinska University Hospital, Karolinska Institutet, Uppsala University, Inserm, Université de Lille, Institut Pasteur de Lille, Approches épidémiologiques et moléculaires intégratives visant à améliorer la compréhension des maladies chroniques liées au vieillissement, LabEx DISTALZ, German Center for Neurodegenerative Diseases
Language: English
Subfield: Cellular and Molecular Neuroscience
Field: Neuroscience
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $4,095
Funders: Alexander von Humboldt-Stiftung, EU Joint Programme – Neurodegenerative Disease Research, Agence Nationale de la Recherche, Bundesministerium für Bildung und Forschung, Ministerio de Ciencia, Tecnología e Innovación Productiva, International Society for Neurochemistry, Agencia Nacional de Promoción Científica y Tecnológica, Fondo para la Investigación Científica y Tecnológica
Awards: Defining Genetic, Polygenic and Environmental Risk for Alzheimer's Disease using multiple powerful cohorts, focussed Epigenetics and Stem cell metabolomics, G2445677691, G3107428339, JPND Verbundprojekt EADB: Identifizierung genetischer Risikofaktoren, die einen Einfluss auf die Progressionsrate der Alzheimer Erkrankung haben, Développement de stratégies innovantes pour une approche transdisciplinaire de la maladie d'Alzheime, G3360127827, G350075096, Busqueda de nuevos biomarcadores en un modelo animal de enfermedad de Alzheimer presintomtica mediante metabolmica por espectrometra de RMN, Diseño del TARGET-AD: un algoritmo clínico que pondera el riesgo de padecer Alzheimer mediante el uso de variantes genéticas y su interacción con factores ambientales, Medical Genomics, G6477723311, Neo-angiogénesis y Bioenérgetica: nuevos paradigmas para la búsqueda de biomarcadores con valor pronóstico en enfermedad de Alzheimer, G7845972356
OpenAlex ID: W2913240459