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1.
Alzheimers Dement ; 20(2): 1298-1308, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-37985413

RESUMO

INTRODUCTION: 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 values.


Assuntos
Doença de Alzheimer , Azidas , Estudo de Associação Genômica Ampla , Humanos , Chile , Doença de Alzheimer/genética , Predisposição Genética para Doença/genética , Polimorfismo de Nucleotídeo Único/genética
2.
Rev. Hosp. El Cruce ; (23): 15-20, 19/12/2018.
Artigo em Espanhol | LILACS, BINACIS | ID: biblio-967983

RESUMO

La hipertensión arterial es un importante problema de salud, uno de los factores de riesgo más importantes para el desarrollo de enfermedad coronaria y el de mayor peso para el desarrollo de enfermedad cerebrovascular. Se ha demostrado que es posible reducir la muerte por esta causa en un 40%, dos terceras partes se debe a medidas tales como: dieta y peso adecuado, control de la hipertensión, actividad física y abandono del hábito de fumar. El autocuidado como valor inherente a cada ser humano y percibido esté como un deber y un derecho para consigo mismo y con la sociedad, es una estrategia que responde a las metas y prioridades del equipo de salud. Este estudio indaga acerca de las actividades de autocuidado que implementan los pacientes, alcanzando una caracterización de los mismos, y su relación con actividades de autocuidado.


Hypertension is an important health problem, one of the most important risk factors for the development of coronary heart disease and the one with the greatest weight for the development of cerebrovascular disease. It has been shown that it is possible to reduce death from this cause by 40%; Two thirds are due to measures such as: diet and adequate weight control of hypertension physical activity and smoking cessation (OMS). Self-care as an inherent value to each human being and perceived as a duty and a right to himself and society, is a strategy that responds to the goals and priorities ofthe health team. This study investigates the self-care activities that patients implement, reaching a characterization of them, and their relationship with self-care activities.


Assuntos
Autocuidado , Hipertensão , Pacientes Internados
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