Transethnic meta-analysis of rare coding variants in PLCG2, ABI3, and TREM2 supports their general contribution to Alzheimer's disease
Dalmasso, Maria Carolina (Fundación Instituto Leloir (Buenos Aires, Argentina))
Brusco, Luis Ignacio (Hospital Interzonal General de Agudos Eva Perón)
Olivar, Natividad (Departamento Ciencias Fisiológicas UAII. Facultad de Medicina. UBA. C.A.B.A)
Muchnik, Carolina (Instituto de Investigaciones Médicas Alfredo Lanari (Buenos Aires, Argentina))
Hanses, Claudia (Department of Psychiatry and Psychotherapy. University of Bonn)
Milz, Esther (Division of Neurogenetics and Molecular Psychiatry. Department of Psychiatry and Psychotherapy. University of Cologne)
Becker, Julian (Department of Psychiatry and Psychotherapy. University of Bonn)
Heilmann-Heimbach, Stefanie (Department of Genomics. Life & Brain Center. University of Bonn)
Hoffmann, Per (University Hospital Basel (Basilea, Suïssa))
Prestia, Federico A. (Fundación Instituto Leloir (Buenos Aires, Argentina))
Galeano, Pablo (Fundación Instituto Leloir (Buenos Aires, Argentina))
Avalos, Mariana S. S. (Ministerio de Salud de la Provincia de Jujuy. Programa del Adulto Mayor. San Salvador de Jujuy)
Martinez, Luis Eduardo (Hospital Interzonal General de Agudos Eva Perón)
Carulla, Mariana Estela (Hospital Interzonal General de Agudos Eva Perón)
Azurmendi, Pablo Javier (Instituto de Investigaciones Médicas Alfredo Lanari (Buenos Aires, Argentina))
Liberczuk, Cynthia (Centro de Neuropsiquiatría y Neurología de la Conducta (CENECON). Facultad de Medicina. Universidad de Buenos Aires (UBA). C.A.B.A)
Fezza, Cristina (Instituto de Investigaciones Médicas Alfredo Lanari (Buenos Aires, Argentina))
Sampaño, Marcelo (Centro de Neuropsiquiatría y Neurología de la Conducta (CENECON). Facultad de Medicina. Universidad de Buenos Aires (UBA). C.A.B.A)
Fierens, Maria (Centro de Neuropsiquiatría y Neurología de la Conducta (CENECON). Facultad de Medicina. Universidad de Buenos Aires (UBA). C.A.B.A)
Jemar, Guillermo (Centro de Neuropsiquiatría y Neurología de la Conducta (CENECON). Facultad de Medicina. Universidad de Buenos Aires (UBA). C.A.B.A)
Solis, Patricia (Neurosciences and Complex Systems Unit (EnyS). CONICET. Hospital El Cruce "Dr. Néstor Kirchner". Univ Arturo Jauretche)
Medel, Nancy (Neurosciences and Complex Systems Unit (EnyS). CONICET. Hospital El Cruce "Dr. Néstor Kirchner". Univ Arturo Jauretche)
Lisso, Julieta (Neurosciences and Complex Systems Unit (EnyS). CONICET. Hospital El Cruce "Dr. Néstor Kirchner". Univ Arturo Jauretche)
Sevillano, Zulma (Neurosciences and Complex Systems Unit (EnyS). CONICET. Hospital El Cruce "Dr. Néstor Kirchner". Univ Arturo Jauretche)
Bosco, Paolo (IRCCS Associazione Oasi Maria Santissima Srl (Itàlia))
Bossù, Paola (Department of Clinical and Behavioural Neurology. Experimental Neuropsychobiology Laboratory)
Spalletta, Gianfranco (Department of Clinical and Behavioural Neurology. Neuropsychiatry Laboratory. IRCCS Santa Lucia Foundation)
Galimberti, Daniela (Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico)
Mancuso, Michelangelo (University of Pisa. Department of Experimental and Clinical Medicine)
Nacmias, Benedetta (University of Florence)
Sorbi, Sandro (IRCCS 'Don Carlo Gnocchi')
Mecocci, Patrizia (University of Perugia. Department of Medicine)
Pilotto, Alberto (Geriatric Unit and Gerontology-Geriatrics Research Laboratory. Department of Medical Sciences. IRCCS Casa Sollievo della Sofferenza)
Caffarra, Paolo (Alzheimer Center. FERB)
Panza, F. (University of Bari Aldo Moro)
Bullido, María J (Centro de Biología Molecular Severo Ochoa)
Clarimón, Jordi (Institut d'Investigació Biomèdica Sant Pau)
Sánchez-Juan, P. (Hospital Universitario Marqués de Valdecilla (Santander, Cantabria))
Coto, Eliecer (Hospital Universitario Central de Asturias)
Sanchez-Garcia, F. (Hospital Universitario de Gran Canaria Dr. Negrín)
Graff, Caroline (Karolinska Institutet (Estocolm, Suècia). Division of Neurogeriatrics)
Ingelsson, Martin (Department of Public Health/Geriatrics. Uppsala University)
Bellenguez, Céline (University Lille. U1167-Excellence Laboratory LabEx DISTALZ)
Castaño, E. M. (Fundación Instituto Leloir (Buenos Aires, Argentina))
Kairiyama, C. (Hospital Interzonal General de Agudos Eva Perón)
Politis, D. G. (Hospital Interzonal General de Agudos Eva Perón)
Kochen, S. (Neurosciences and Complex Systems Unit (EnyS). CONICET. Hospital El Cruce "Dr. Néstor Kirchner". Univ Arturo Jauretche)
Scaro, H. (Ministerio de Salud de la Provincia de Jujuy. Programa del Adulto Mayor. San Salvador de Jujuy)
Maier, Wolfgang (Department of Neurodegenerative Diseases and Geriatric Psychiatry. University of Bonn)
Jessen, F. (Department of Psychiatry and Psychotherapy. University of Cologne)
Mangone, C. A. (Centro de Neuropsiquiatría y Neurología de la Conducta (CENECON). Facultad de Medicina. Universidad de Buenos Aires (UBA). C.A.B.A)
Lambert, Jean-Charles (University Lille. U1167-Excellence Laboratory LabEx DISTALZ)
Morelli, Laura (Fundación Instituto Leloir (Buenos Aires, Argentina))
Ramirez, Alfredo (University of Bonn)
Universitat Autònoma de Barcelona

Date:	2019
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.
Note:	Altres ajuts: This work was supported by grants from the International Society for Neurochemistry (ISN) and Alexander von Humboldt Foundation (to M.C.D.); Agencia Nacional de Promoción Científica y Tecnológica (PBIT/09 2013, PICT2015-0285 and PICT-2016-4647 to L.M.; PICT-2014-1537 to M.C.D.); GENMED Labex and JPND PERADES grant; and JPND EADB grant (German Federal Ministry of Education and Research, BMBF: 01ED1619A).
Rights:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Language:	Anglès
Document:	Article ; recerca ; Versió publicada
Subject:	Receptors, Immunologic
Published in:	Translational psychiatry, Vol. 9 Núm. 1 (january 2019) , p. 55, ISSN 2158-3188

DOI: 10.1038/s41398-019-0394-9
PMID: 30705288

6 p, 820.8 KB

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Research literature > UAB research groups literature > Research Centres and Groups (research output) > Health sciences and biosciences > Institut de Recerca Sant Pau
Articles > Research articles
Articles > Published articles