UCLA Stein Eye Institute, Division of Retinal Disorders and Ophthalmic Genetics, Department of Ophthalmology, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA; Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA.
UCLA Stein Eye Institute, Department of Ophthalmology, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA.
Exp Eye Res. 2020 Feb;191:107894. doi: 10.1016/j.exer.2019.107894. Epub 2019 Dec 17.
Age-related macular degeneration (AMD) is a complex disease with multiple genetic and environmental risk factors. In the age of molecular genetics, many investigators have established a link between genes and development or progression of the disease. This later evolved to determine whether phenotypic features of AMD have distinct genetic profiles. Molecular genetics have subsequently been introduced as factors in risk assessment models, increasing the predictive value of these tools. Models seek to predict either development or progression of disease, and different AMD-related genes aid our understanding of these respective features. Several investigators have attempted to link molecular genetics with treatment response, but results and their clinical significance vary. Ocular and systemic biomarkers may interact with established genes, promising future routes of ongoing clinical assessment. Our understanding of AMD molecular genetics is not yet sufficient to recommend routine testing, despite its utility in the research setting. Clinicians must be wary of misusing population-based risk models from genetic and biomarker associations, as they are not necessarily relevant for individual counseling. This review addresses the known uses of predictive genetics, and suggests future directions.
年龄相关性黄斑变性（AMD）是一种复杂的疾病，具有多种遗传和环境风险因素。在分子遗传学时代，许多研究人员已经在基因与疾病的发生或进展之间建立了联系。后来，这一研究进一步确定了 AMD 的表型特征是否具有不同的遗传特征。分子遗传学随后被引入风险评估模型中，提高了这些工具的预测价值。模型旨在预测疾病的发生或进展，不同的 AMD 相关基因有助于我们理解这些不同的特征。一些研究人员试图将分子遗传学与治疗反应联系起来，但结果及其临床意义各不相同。眼部和全身生物标志物可能与已建立的基因相互作用，为未来的临床评估提供了新途径。尽管 AMD 分子遗传学在研究中很有用，但我们对其的了解还不足以推荐常规检测。临床医生必须警惕从遗传和生物标志物关联中滥用基于人群的风险模型，因为它们对于个体咨询不一定相关。这篇综述讨论了预测遗传学的已知用途，并提出了未来的方向。
