遗传学与年龄相关性黄斑变性：临床医生实用综述
Genetics and age-related macular degeneration: a practical review for the clinician.
作者信息
Schwartz Stephen G, Hampton Blake M, Kovach Jaclyn L, Brantley Milam A
机构信息
Department of Ophthalmology, Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, FL, USA.
Department of Ophthalmology, Vanderbilt Eye Institute, Vanderbilt University Medical Center, Nashville, TN, USA.
出版信息
Clin Ophthalmol. 2016 Jul 4;10:1229-35. doi: 10.2147/OPTH.S109723. eCollection 2016.
Abstract
Age-related macular degeneration is a complex disease, with both genetic and environmental risk factors interacting in unknown ways. Currently, 52 gene variants within 34 loci have been significantly associated with age-related macular degeneration. Two well-studied major genes are complement factor H (CFH) and age-related maculopathy susceptibility 2 (ARMS2). There exist several commercially available tests that are proposed to stratify patients into high-risk and low-risk groups, as well as predict response to nutritional supplementation. However, at present, the bulk of the available peer-reviewed evidence suggests that genetic testing is more useful as a research tool than for clinical management of patients.
摘要
年龄相关性黄斑变性是一种复杂的疾病，遗传和环境风险因素以未知方式相互作用。目前，34个基因座内的52个基因变异已与年龄相关性黄斑变性显著相关。两个经过充分研究的主要基因是补体因子H（CFH）和年龄相关性黄斑病变易感性2（ARMS2）。有几种商业上可用的检测方法，旨在将患者分为高风险和低风险组，并预测对营养补充的反应。然而，目前大量经过同行评审的现有证据表明，基因检测作为一种研究工具比用于患者的临床管理更有用。
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