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

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.

 Fuente: Transl Psychiatry . 2019 Jan 31;9(1):55

Editorial: Nature Pub. Group

 Año de publicación: 2019

Nº de páginas: 6

Tipo de publicación: Artículo de Revista

 DOI: 10.1038/s41398-019-0394-9

ISSN: 2158-3188

Url de la publicación: https://doi.org/10.1038/s41398-019-0394-9

Autoría

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

SANCHEZ AVALOS, MARIANA SOLEDAD

MARTINEZ, LUIS EDUARDO

CARULLA, MARIANA ESTELA

AZURMENDI, PABLO JAVIER

LIBERCZUK, CYNTHIA

FEZZA, CRISTINA

SAMPAÑO, MARCELO

FIERENS, MARIA

PASCUAL SANCHEZ JUAN