Person: Slachevsky Chonchol, Andrea
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Slachevsky Chonchol
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Andrea
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Andrea María Slachevsky Conchol
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Publication The first genome-wide association study in the Argentinian and Chilean populations identifies shared genetics with Europeans in Alzheimer's disease(2024) Dalmasso, Maria; De Rojas, Itziar; Olivar, Natividad; Muchnik, Carolina; Angel, Bárbara; Gloger, Sergio; Sanchez, Mariana; Chacón, María; Aránguiz, Rafael; Orellana, Paulina; Cuesta, Carolina; Galeano, Pablo; Campanelli, Lorenzo; Novack, Gisela; Martinez, Luis; Medel, Nancy; Lisso, Julieta; Sevillano, Zulma; Irureta, Nicolás; Castaño, Eduardo; Montrreal, Laura; Thoenes, Michaela; Hanses, Claudia; Heilmann-Heimbach, Stefanie; Kairiyama, Claudia; Mintz, Inés; Villella, Ivana; Rueda, Fabiana; Romero, Amanda; Wukitsevits, Nancy; Quiroga, Ivana; Gona, Cristian; Lamber, Jean-Charles; Solis, Patricia; Politis, Daniel; Mangone, Carlos; Gonzalez, Christian; Boada, Mercè; Tàrraga, Lluís; Slachevsky Chonchol, AndreaIntroduction: Genome-wide association studies (GWAS) are fundamental for identifying loci associated with diseases. However, they require replication in other ethnicities. Methods: We performed GWAS on sporadic Alzheimer's disease (AD) including 539 patients and 854 controls from Argentina and Chile. We combined our results with those from the European Alzheimer and Dementia Biobank (EADB) in a meta-analysis and tested their genetic risk score (GRS) performance in this admixed population. Results: We detected apolipoprotein E ε4 as the single genome-wide significant signal (odds ratio = 2.93 [2.37-3.63], P = 2.6 × 10-23 ). The meta-analysis with EADB summary statistics revealed four new loci reaching GWAS significance. Functional annotations of these loci implicated endosome/lysosomal function. Finally, the AD-GRS presented a similar performance in these populations, despite the score diminished when the Native American ancestry rose. Discussion: We report the first GWAS on AD in a population from South America. It shows shared genetics modulating AD risk between the European and these admixed populations. Highlights: This is the first genome-wide association study on Alzheimer's disease (AD) in a population sample from Argentina and Chile. Trans-ethnic meta-analysis reveals four new loci involving lysosomal function in AD. This is the first independent replication for TREM2L, IGH-gene-cluster, and ADAM17 loci. A genetic risk score (GRS) developed in Europeans performed well in this population. The higher the Native American ancestry the lower the GRS valuesPublication Biomarkers for dementia in Latin American countries: Gaps andopportunities(2023) Parra, Mario A.; Orellana, Paulina; León, Tomas; Victoria, Cabello G.; Henriquez, Fernando; Gomez, Rodrigo; Avalos, Constanza; Damian, Andres; Slachevsky Chonchol, Andrea; Ibañez, Agustin; Zetterberg, Henrik; Tijms, Betty M.; Yokoyama, Jennifer S.; Piña-Escudero, Stefanie D.; Cochran, Nicholas; Matallana, Diana L.; Acosta, Daisy; Allegri, Ricardo; Arias-Suáres, Bianca P.; Barra, Bernardo; Behrens, María Isabel; Brucki, Sonia M.D.; Busatto, Geraldo; Caramelli, Paulo; Castro-Suarez, Sheila; Contreras, Valeria; Custodio, Nilton; Dansilio, Sergio; De la Cruz-Puebla, Myriam; Cruz de Souza, Leonado; Díaz, Monica M.; Duque, Lissette; Farias, Gonzalo A.; Ferreira, Sergio T.; Magrath Guimet, Nahuel; Kmaid, Ana; Lira, David; Lopera, Francisco; Mar Meza, Beatriz; Miotto, Eliane C.Limited knowledge on dementia biomarkers in Latin American and Caribbean (LAC)countries remains a serious barrier. Here, we reported a survey to explore the ongo-ing work, needs, interests, potential barriers, and opportunities for future studiesrelated to biomarkers. The results show that neuroimaging is the most used biomarker(73%), followed by genetic studies (40%), peripheral fluids biomarkers (31%), and cere-brospinal fluid biomarkers (29%). Regarding barriers in LAC, lack of funding appears toundermine the implementation of biomarkers in clinical or research settings, followedby insufficient infrastructure and training. The survey revealed that despite the abovebarriers, the region holds a great potential to advance dementia biomarkers research.Considering the unique contributions that LAC could make to this growing field,we highlight the urgent need to expand biomarker research. These insights allowedus to propose an action plan that addresses the recommendations for a biomarkerframework recently proposed by regional experts.Publication Validation of Picture Free and Cued Selective Reminding Test for Illiteracy in Lima, Perú(2022) Montesinos, Rosa; Parodi, José; Díaz, Mónica; Herrera, Eder; Valeriano, Elizabeth; Soto, Ambar; Delgado, Carolina; Slachevsky Chonchol, Andrea; Custodio, NiltonDementia in Latin America is a crucial public health problem. Identifying brief cognitive screening (BCS) tools for the primary care setting is crucial, particularly for illiterate individuals. We evaluated tool performance characteristics and validated the free and total recall sections of the Free and Cued Selective Reminding Test-Picture version (FCSRT-Picture) to discriminate between 63 patients with early Alzheimer's disease dementia (ADD), 60 amnestic mild cognitive impairment (aMCI) and 64 cognitively healthy Peruvian individuals with illiteracy from an urban area. Clinical, functional, and cognitive assessments were performed. FCSRT-Picture performance was assessed using receiver operating characteristic curve analyses. The mean ± standard deviation scores were 7.7 ± 1.0 in ADD, 11.8 ± 1.6 in aMCI, and 29.5 ± 1.8 in controls. The FCSRT-Picture had better performance characteristics for distinguishing controls from aMCI compared with several other BCS tools, but similar characteristics between controls and early ADD. The FCSRT-Picture is a reliable BCS tool for illiteracy in Perú.