年龄相关性黄斑变性的遗传学：当前概念与未来方向
Genetics of age-related macular degeneration: current concepts, future directions.
作者信息
Deangelis Margaret M, Silveira Alexandra C, Carr Elizabeth A, Kim Ivana K
机构信息
Ocular Molecular Genetics Institute, Massachusetts Eye and Ear Infirmary, Department of Ophthalmology, Harvard Medical School, Boston, MA 02114, USA.
出版信息
Semin Ophthalmol. 2011 May;26(3):77-93. doi: 10.3109/08820538.2011.577129.
Abstract
Age-related macular degeneration (AMD) is a progressive degenerative disease which leads to blindness, affecting the quality of life of millions of Americans. More than 1.75 million individuals in the United States are affected by the advanced form of AMD. The etiological pathway of AMD is not yet fully understood, but there is a clear genetic influence on disease risk. To date, the 1q32 (CFH) and 10q26 (PLEKHA1/ARMS2/HTRA1) loci are the most strongly associated with disease; however, the variation in these genomic regions alone is unable to predict disease development with high accuracy. Therefore, current genetic studies are aimed at identifying new genes associated with AMD and their modifiers, with the goal of discovering diagnostic or prognostic biomarkers. Moreover, these studies provide the foundation for further investigation into the pathophysiology of AMD by utilizing a systems-biology-based approach to elucidate underlying mechanistic pathways.
摘要
年龄相关性黄斑变性（AMD）是一种导致失明的进行性退行性疾病，影响着数百万美国人的生活质量。在美国，超过175万人受到晚期AMD的影响。AMD的病因途径尚未完全了解，但疾病风险存在明显的遗传影响。迄今为止，1q32（CFH）和10q26（PLEKHA1/ARMS2/HTRA1）位点与该疾病关联最为紧密；然而，仅这些基因组区域的变异无法高精度预测疾病发展。因此，当前的基因研究旨在识别与AMD相关的新基因及其修饰因子，目标是发现诊断或预后生物标志物。此外，这些研究通过利用基于系统生物学的方法来阐明潜在的机制途径，为进一步研究AMD的病理生理学提供了基础。
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