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1.
Prog Retin Eye Res ; 67: 56-86, 2018 11.
Artículo en Inglés | MEDLINE | ID: mdl-29729972

RESUMEN

There is an urgency to find new treatment strategies that could prevent or delay the onset or progression of AMD. Different classes of lipids and lipoproteins metabolism genes have been associated with AMD in a multiple ways, but despite the ever-increasing knowledge base, we still do not understand fully how circulating lipids or local lipid metabolism contribute to AMD. It is essential to clarify whether dietary lipids, systemic or local lipoprotein metabolismtrafficking of lipids in the retina should be targeted in the disease. In this article, we critically evaluate what has been reported in the literature and identify new directions needed to bring about a significant advance in our understanding of the role for lipids in AMD. This may help to develop potential new treatment strategies through targeting the lipid homeostasis.


Asunto(s)
Metabolismo de los Lípidos/fisiología , Degeneración Macular/metabolismo , Transporte Biológico/genética , Colesterol/metabolismo , Dieta , Ácidos Grasos Omega-3/fisiología , Humanos , Lipoproteínas HDL/metabolismo
2.
Nat Commun ; 5: 4883, 2014 Sep 22.
Artículo en Inglés | MEDLINE | ID: mdl-25241763

RESUMEN

Glaucoma is characterized by irreversible optic nerve degeneration and is the most frequent cause of irreversible blindness worldwide. Here, the International Glaucoma Genetics Consortium conducts a meta-analysis of genome-wide association studies of vertical cup-disc ratio (VCDR), an important disease-related optic nerve parameter. In 21,094 individuals of European ancestry and 6,784 individuals of Asian ancestry, we identify 10 new loci associated with variation in VCDR. In a separate risk-score analysis of five case-control studies, Caucasians in the highest quintile have a 2.5-fold increased risk of primary open-angle glaucoma as compared with those in the lowest quintile. This study has more than doubled the known loci associated with optic disc cupping and will allow greater understanding of mechanisms involved in this common blinding condition.


Asunto(s)
Estudio de Asociación del Genoma Completo , Glaucoma/genética , Glaucoma/fisiopatología , Pueblo Asiatico/genética , Estudios de Casos y Controles , Perfilación de la Expresión Génica , Frecuencia de los Genes , Genotipo , Glaucoma/etnología , Humanos , Disco Óptico/patología , Nervio Óptico/patología , Fenotipo , Polimorfismo de Nucleótido Simple , Población Blanca/genética
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