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

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 JemarPatricia 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

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Article number55
JournalTranslational Psychiatry
Issue number1
Publication statusPublished - Dec 1 2019

ASJC Scopus subject areas

  • Psychiatry and Mental health
  • Cellular and Molecular Neuroscience
  • Biological Psychiatry


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