Transethnic meta-analysis of rare coding variants in PLCG2, ABI3, and TREM2 supports their general contribution to Alzheimer’s disease

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...

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Published in:	Translational psychiatry Vol. 9; no. 1; p. 55
Main Authors:	Dalmasso, Maria Carolina, Brusco, Luis Ignacio, Olivar, Natividad, Muchnik, Carolina, Hanses, Claudia, Milz, Esther, Becker, Julian, Heilmann-Heimbach, Stefanie, Hoffmann, Per, Prestia, Federico A., Galeano, Pablo, Avalos, Mariana Soledad Sanchez, Martinez, Luis Eduardo, Carulla, Mariana Estela, Azurmendi, Pablo Javier, Liberczuk, Cynthia, Fezza, Cristina, Sampaño, Marcelo, Fierens, Maria, Jemar, Guillermo, Solis, Patricia, Medel, Nancy, Lisso, Julieta, Sevillano, Zulma, Bosco, Paolo, Bossù, Paola, Spalletta, Gianfranco, Galimberti, Daniela, Mancuso, Michelangelo, Nacmias, Benedetta, Sorbi, Sandro, Mecocci, Patrizia, Pilotto, Alberto, Caffarra, Paolo, Panza, Francesco, Bullido, Maria, Clarimon, Jordi, Sánchez-Juan, Pascual, Coto, Eliecer, Sanchez-Garcia, Florentino, Graff, Caroline, Ingelsson, Martin, Bellenguez, Céline, Castaño, Eduardo Miguel, Kairiyama, Claudia, Politis, Daniel Gustavo, Kochen, Silvia, Scaro, Horacio, Maier, Wolfgang, Jessen, Frank, Mangone, Carlos Alberto, Lambert, Jean-Charles, Morelli, Laura, Ramirez, Alfredo
Format:	Journal Article
Language:	English
Published:	London Nature Publishing Group UK 31-01-2019 Nature Publishing Group Nature Pub. Group
Subjects:	45 45/22 45/43 45/77 631/208/212 692/699 Adaptor Proteins, Signal Transducing - genetics African Continental Ancestry Group - genetics Aged Aged, 80 and over Aging Alzheimer Disease - ethnology Alzheimer Disease - genetics Apolipoproteins Argentina - ethnology Behavioral Sciences Biological Psychology Dementia European Continental Ancestry Group - genetics Female Genetic Predisposition to Disease Genetic Variation Genome-Wide Association Study Genomes Genotype Humans Indians, North American - genetics Life Sciences Male Medicin och hälsovetenskap Medicine Medicine & Public Health Membrane Glycoproteins - genetics Meta-analysis Middle Aged Neurosciences Pharmacotherapy Phospholipase C gamma - genetics Population Psychiatry Receptors, Immunologic - genetics Systematic review Argentina
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Summary:	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.
Bibliography:	ObjectType-Article-2 SourceType-Scholarly Journals-1 ObjectType-Feature-1 content type line 23
ISSN:	2158-3188 2158-3188
DOI:	10.1038/s41398-019-0394-9