Transethnic meta-analysis of rare coding variants in PLCG2, ABI3, and TREM2 supports their general contribution to Alzheimer's disease
Autor: | Florentino Sanchez-Garcia, Jean-Charles Lambert, Horacio Scaro, Zulma Sevillano, Paolo Bosco, Wolfgang Maier, Silvia Kochen, Alfredo Ramirez, Laura Morelli, Julieta Lisso, Mariana Soledad Sanchez Avalos, Carlos A Mangone, Cynthia Liberczuk, Paolo Caffarra, Frank Jessen, Daniel Gustavo Politis, Eduardo M. Castaño, Guillermo Jemar, Eliecer Coto, Claudia Kairiyama, Daniela Galimberti, Cristina Fezza, Patrizia Mecocci, Per Hoffmann, Jordi Clarimón, Luis I. Brusco, Claudia Hanses, Paola Bossù, Sandro Sorbi, Benedetta Nacmias, Nancy Medel, Mariana Estela Carulla, Michelangelo Mancuso, Federico A. Prestia, Maria Carolina Dalmasso, Pascual Sánchez-Juan, Pablo Galeano, María J. Bullido, Carolina Muchnik, Martin Ingelsson, Luis Eduardo Martinez, Pablo Javier Azurmendi, Caroline Graff, J Becker, Alberto Pilotto, Marcelo Sampaño, Céline Bellenguez, Maria Fierens, Francesco Panza, Natividad Olivar, Esther Milz, Stefanie Heilmann-Heimbach, Gianfranco Spalletta, Patricia Solís |
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Přispěvatelé: | International Society for Neurochemistry, Alexander von Humboldt Foundation, Agencia Nacional de Promoción Científica y Tecnológica (Argentina), Universidad de Cantabria, UAM. Departamento de Biología Molecular |
Jazyk: | angličtina |
Rok vydání: | 2019 |
Předmět: |
0301 basic medicine
Male Neurologi Genome-wide association study genetics [Alzheimer Disease] Disease 0302 clinical medicine genetics [Membrane Glycoproteins] genetics [Adaptor Proteins Signal Transducing] purl.org/becyt/ford/3.2 [https] genetics [Black People] TREM2 ethnology [Argentina] genetics [Receptors Immunologic] Receptors Immunologic ABI3 protein human Genetics Aged 80 and over Membrane Glycoproteins Genomics genetics [African Continental Ancestry Group] Middle Aged Biología y Biomedicina / Biología genetics [European Continental Ancestry Group] Neurology genetics [Phospholipase C gamma] Psychiatry and Mental Health genetics [Indians North American] purl.org/becyt/ford/3 [https] Female Alzheimer's disease Genotype ABI3 GENETIC Argentina genetics [White People] Black People Single-nucleotide polymorphism Biology DIAGNOSIS White People Article lcsh:RC321-571 PLCG2 03 medical and health sciences Cellular and Molecular Neuroscience Alzheimer Disease medicine Genetic predisposition Humans Genetic Predisposition to Disease ddc:610 Allele frequency lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry Biological Psychiatry Genetic association Aged Adaptor Proteins Signal Transducing ethnology [Alzheimer Disease] TREM2 protein human Phospholipase C gamma Genetic Variation medicine.disease 030104 developmental biology PLCG2 ABI3 TREM2 Indians North American Alzheimer 030217 neurology & neurosurgery Genome-Wide Association Study |
Zdroj: | Translational Psychiatry 9(1), 55 (2019). doi:10.1038/s41398-019-0394-9 Transl Psychiatry . 2019 Jan 31;9(1):55 Digital.CSIC. Repositorio Institucional del CSIC instname UCrea Repositorio Abierto de la Universidad de Cantabria Universidad de Cantabria (UC) Biblos-e Archivo. Repositorio Institucional de la UAM Dipòsit Digital de Documents de la UAB Universitat Autònoma de Barcelona Translational Psychiatry, Vol 9, Iss 1, Pp 1-6 (2019) Translational Psychiatry r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau CONICET Digital (CONICET) Consejo Nacional de Investigaciones Científicas y Técnicas instacron:CONICET |
ISSN: | 2158-3188 |
Popis: | 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. 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.) |
Databáze: | OpenAIRE |
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