Artículo
Transethnic meta-analysis of rare coding variants in PLCG2, ABI3, and TREM2 supports their general contribution to Alzheimer’s disease
Dalmasso, Maria Carolina
; Brusco, Luis Ignacio
; Olivar, Natividad; Muchnik, Carolina; Hanses, Claudia; Milz, Esther; Becker, Julian; Heilmann Heimbach, Stefanie; Hoffmann, Per; Prestia, Federico; Galeano, Pablo
; Sanchez Avalos, Mariana Soledad; Martinez, Luis Eduardo; Carulla, Mariana Estela; Azurmendi, Pablo Javier
; Liberczuk, Cynthia; Fezza de Celso, María Cristina; Sampaño, Marcelo; Fierens, Maria; Jemar, Guillermo; Solis, Patricia Cristina Lourdes; Medel, Nancy Ruth; Lisso, Julieta; Sevillano, Zulma Haidée; 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 Beatriz; Politis, Daniel Gustavo
; Kochen, Sara Silvia
; Scaro, Horacio; Maier, Wolfgang; Jessen, Frank; Mangone, Carlos Alberto; Lambert, Jean Charles; Morelli, Laura
; Ramirez, Alfredo Jose
Fecha de publicación:
01/2019
Editorial:
Nature Publishing Group
Revista:
Translational Psychiatry
ISSN:
2158-3188
e-ISSN:
2158-3188
Idioma:
Inglés
Tipo de recurso:
Artículo publicado
Clasificación temática:
Resumen
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.
Palabras clave:
ALZHEIMER
,
GENETIC
,
DIAGNOSIS
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Articulos(ENYS)
Articulos de UNIDAD EJECUTORA DE ESTUDIOS EN NEUROCIENCIAS Y SISTEMAS COMPLEJOS
Articulos de UNIDAD EJECUTORA DE ESTUDIOS EN NEUROCIENCIAS Y SISTEMAS COMPLEJOS
Articulos(IIBBA)
Articulos de INST.DE INVEST.BIOQUIMICAS DE BS.AS(I)
Articulos de INST.DE INVEST.BIOQUIMICAS DE BS.AS(I)
Articulos(SEDE CENTRAL)
Articulos de SEDE CENTRAL
Articulos de SEDE CENTRAL
Citación
Dalmasso, Maria Carolina; Brusco, Luis Ignacio; Olivar, Natividad; Muchnik, Carolina; Hanses, Claudia; et al.; Transethnic meta-analysis of rare coding variants in PLCG2, ABI3, and TREM2 supports their general contribution to Alzheimer’s disease; Nature Publishing Group; Translational Psychiatry; 9; 1; 1-2019; 55
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