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
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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