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探讨分子生物标志物在年龄相关性黄斑变性精准医学中的应用。

Exploring the Use of Molecular Biomarkers for Precision Medicine in Age-Related Macular Degeneration.

机构信息

Department of Ophthalmology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, Philips van Leydenlaan 15, 6525 EX, Nijmegen, The Netherlands.

Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.

出版信息

Mol Diagn Ther. 2018 Jun;22(3):315-343. doi: 10.1007/s40291-018-0332-1.

DOI:10.1007/s40291-018-0332-1
PMID:29700787
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5954014/
Abstract

Precision medicine aims to improve patient care by adjusting medication to each patient's individual needs. Age-related macular degeneration (AMD) is a heterogeneous eye disease in which several pathways are involved, and the risk factors driving the disease differ per patient. As a consequence, precision medicine holds promise for improved management of this disease, which is nowadays a main cause of vision loss in the elderly. In this review, we provide an overview of the studies that have evaluated the use of molecular biomarkers to predict response to treatment in AMD. We predominantly focus on genetic biomarkers, but also include studies that examined circulating or eye fluid biomarkers in treatment response. This involves studies on treatment response to dietary supplements, response to anti-vascular endothelial growth factor, and response to complement inhibitors. In addition, we highlight promising new therapies that have been or are currently being tested in clinical trials and discuss the molecular studies that can help identify the most suitable patients for these upcoming therapeutic approaches.

摘要

精准医学旨在通过调整药物来满足每个患者的个体需求,从而改善患者的治疗效果。年龄相关性黄斑变性(AMD)是一种异质性眼病,涉及多个途径,每个患者的致病因素也不同。因此,精准医学有望改善这种疾病的治疗效果,目前 AMD 是导致老年人视力丧失的主要原因。在这篇综述中,我们概述了评估分子生物标志物在 AMD 治疗反应预测中的应用的研究。我们主要关注遗传生物标志物,但也包括研究循环或眼内液生物标志物在治疗反应中的作用。这涉及到对膳食补充剂治疗反应、抗血管内皮生长因子治疗反应和补体抑制剂治疗反应的研究。此外,我们还重点介绍了一些正在临床试验中或即将进行临床试验的有前途的新疗法,并讨论了有助于确定这些新疗法最适合患者的分子研究。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3a35/5954014/72d215f60d59/40291_2018_332_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3a35/5954014/72d215f60d59/40291_2018_332_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3a35/5954014/72d215f60d59/40291_2018_332_Fig1_HTML.jpg

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Genome-Wide Association Study Reveals Variants in CFH and CFHR4 Associated with Systemic Complement Activation: Implications in Age-Related Macular Degeneration.
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