Genetic contributions to Alzheimer’s disease and frontotemporal dementia in admixed Latin American populations

Latin America's diverse genetic landscape provides a unique opportunity to study Alzheimer's disease (AD) and frontotemporal dementia (FTD). The Multi-Partner Consortium to Expand Dementia Research in Latin America (ReDLat) recruited 2162 participants with AD, FTD, or healthy controls from six countries: Argentina, Brazil, Chile, Colombia, Mexico, and Peru. Participants underwent genomic sequencing, and population structure analyses were conducted using Principal Component Analysis and ADMIXTURE. The study revealed a predominant mix of American, African, and European ancestries, with an additional East Asian component in Brazil. Variant curation identified 17 pathogenic variants, a pathogenic <i>C9orf72</i> expansion, and 44 variants of uncertain significance. Seventy families showed autosomal dominant inheritance, with 48 affected by AD and 22 by FTD. This represents the first large-scale genetic study of AD and FTD in Latin America, highlighting the need to consider diverse ancestries, social determinants of health, and cultural factors when assessing genetic risk for neurodegenerative diseases.

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Publication Details

Journal
npj Dementia
Published
2026-01-21
DOI
https://doi.org/10.1038/s44400-025-00025-z
Primary Topic
Alzheimer's disease research and treatments
Type
article
Field-Weighted Citation Impact
0.00

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article

Genetic contributions to Alzheimer’s disease and frontotemporal dementia in admixed Latin American populations

Stefanie Pina-Escudero, Maria Eugenia Godoy, Erin A. Barinaga, Dan Vitale et al.
npj Dementia
Alzheimer's disease research and treatments
article

Genetic contributions to Alzheimer’s disease and frontotemporal dementia in admixed Latin American populations

Stefanie Pina-Escudero, Maria Eugenia Godoy, Erin A. Barinaga, Dan Vitale, Marcelo Adrián Maito, Martín A. Bruno, Nancy Gélvez, Dafne Estefania Durón-Reyes, Caroline B. Pantazis, A. Levine, Kevin J. Roberts, Lina Maria Zapata‐Restrepo, Juliana Acosta-Uribe, Andrew B. Singleton, Claudia Durán-Aniotz, Luis I. Brusco, Elisa de Paula França Resende, Andrea Slachevsky, Agustin Ibañez, Diana L. Matallana, Bruce L. Miller, Luisa F. Gómez, P. Alejandra Castruita, Mike A. Nalls, Jennifer S. Yokoyama, Caroline Jonson, Nilton Custodio, Francisco Lopera, Victor Valcour, Shireen Javandel, Dawwod S. George, J. Nicholas Cochran, Jared W. Taylor, Leonel T. Takada, Kenneth S. Kosik, María I. Behrens, M. Beatriz Bistue
article en

Abstract

Latin America's diverse genetic landscape provides a unique opportunity to study Alzheimer's disease (AD) and frontotemporal dementia (FTD). The Multi-Partner Consortium to Expand Dementia Research in Latin America (ReDLat) recruited 2162 participants with AD, FTD, or healthy controls from six countries: Argentina, Brazil, Chile, Colombia, Mexico, and Peru. Participants underwent genomic sequencing, and population structure analyses were conducted using Principal Component Analysis and ADMIXTURE. The study revealed a predominant mix of American, African, and European ancestries, with an additional East Asian component in Brazil. Variant curation identified 17 pathogenic variants, a pathogenic <i>C9orf72</i> expansion, and 44 variants of uncertain significance. Seventy families showed autosomal dominant inheritance, with 48 affected by AD and 22 by FTD. This represents the first large-scale genetic study of AD and FTD in Latin America, highlighting the need to consider diverse ancestries, social determinants of health, and cultural factors when assessing genetic risk for neurodegenerative diseases.

npj DementiaVol. 2(1)
Universidade Federal de Minas Gerais (BR), Universidad del Desarrollo (CL), Université de Bordeaux (FR), University of California, Santa Barbara (US), University of California, San Francisco (US), Trinity College Dublin (IE), Adolfo Ibáñez University (CL), Pontificia Universidad Javeriana (CO), Universidad de Buenos Aires (AR), University of California System (US), Universidad de Antioquia (CO), Centro Científico Tecnológico - San Juan (AR), Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán (MX), Fundación Valle del Lili (CO), Hospital del Salvador (CL), University Memory and Aging Center (US), Bordeaux Population Health (FR), National Institute of Neurological Disorders and Stroke (US), All Russian Research Institute of Hydrometeorological information World Data Center (RU), Universidad Católica de Cuyo (AR), Fundación Santa Fe de Bogotá (CO), Institute of Peruvian Studies (PE), Instituto de Neurociencia Biomédica (CL), Asociación por los Derechos Civiles (AR), Institute on Aging (US), National Institute on Aging (US), Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (BR), HudsonAlpha Institute for Biotechnology (US), Hospital Universitario San Ignacio (CO), Global Brain Health Institute (US), Icesi University (CO)
U.S. Department of Health and Human Services, Alzheimer's Association, Larry L. Hillblom Foundation, Amazon Web Services, Agencia Nacional de Investigación y Desarrollo, National Institutes of Health, National Institute on Aging, National Institute on Drug Abuse, Fogarty International Center, National Institute of Neurological Disorders and Stroke, Fondo de Fomento al Desarrollo Científico y Tecnológico, Fondo de Financiamiento de Centros de Investigación en Áreas Prioritarias
Partnerships for the goals
Openalex Percentile: Top 83%
Alzheimer's disease research and treatments
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