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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
Publisher: Nature Pub. Group
Year of publication: 2019
No. of pages: 6
Publication type: Article
DOI: 10.1038/s41398-019-0394-9
ISSN: 2158-3188
Publication Url: https://doi.org/10.1038/s41398-019-0394-9
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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
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