Department of Medical and Surgical Sciences and Advanced Technologies "GF Ingrassia", University of Catania, Via S. Sofia 87, 95123 Catania, Italy.
SIFI SpA, Research and Development Department, Via Ercole Patti 36, 95025 Catania, Italy.
Biomed Res Int. 2018 Aug 26;2018:7532507. doi: 10.1155/2018/7532507. eCollection 2018.
Age-related macular degeneration (AMD) is the most common cause of visual loss in developed countries, with a significant economic and social burden on public health. Although genome-wide and gene-candidate studies have been enabled to identify genetic variants in the complement system associated with AMD pathogenesis, the effect of gene-environment interaction is still under debate. In this review we provide an overview of the role of complement system and its genetic variants in AMD, summarizing the consequences of the interaction between genetic and environmental risk factors on AMD onset, progression, and therapeutic response. Finally, we discuss the perspectives of current evidence in the field of genomics driven personalized medicine and public health.
年龄相关性黄斑变性(AMD)是发达国家最常见的致盲原因,给公共卫生带来了重大的经济和社会负担。尽管全基因组和候选基因研究已经能够确定与 AMD 发病机制相关的补体系统中的遗传变异,但基因-环境相互作用的影响仍存在争议。在这篇综述中,我们概述了补体系统及其遗传变异在 AMD 中的作用,总结了遗传和环境危险因素相互作用对 AMD 发病、进展和治疗反应的影响。最后,我们讨论了当前基因组学驱动的个体化医学和公共卫生领域证据的前景。