Pan Yang, Iwata Takeshi
NHO Tokyo Medical Center, National Institute of Sensory Organs, Tokyo, Japan.
Taiwan J Ophthalmol. 2024 Jan 29;14(4):531-539. doi: 10.4103/tjo.TJO-D-23-00152. eCollection 2024 Oct-Dec.
Age-related macular degeneration (AMD) is one of the leading causes of severe irreversible blindness worldwide in the elderly population. AMD is a multifactorial disease mainly caused by advanced age, environmental factors, and genetic variations. Genome-wide association studies (GWAS) have strongly supported the link between locus on chromosome 10q26 and AMD development, encompassing multiple variants, rs10490924 (c.205G > T, p.A69S in ), insertion/deletion (del443/ins54 in ), and rs11200638 (in promoter region). In this comprehensive review, we provide an overview of the role played by risk alleles in neovascular AMD pathogenesis, covering GWAS, studies, and animal models, shedding light on their underlying molecular genetic mechanisms. Further extensive research is also imperative, including confirmation of these findings, identifying novel treatment targets, and advancing primary and secondary prevention strategies for AMD.
年龄相关性黄斑变性（AMD）是全球老年人群严重不可逆失明的主要原因之一。AMD是一种多因素疾病，主要由高龄、环境因素和基因变异引起。全基因组关联研究（GWAS）有力地支持了10号染色体q26位点与AMD发生之间的联系，该位点包含多个变体，如rs10490924（c.205G>T，p.A69S）、插入/缺失（del443/ins54）以及rs11200638（在启动子区域）。在这篇综述中，我们概述了风险等位基因在新生血管性AMD发病机制中的作用，涵盖GWAS、研究及动物模型，揭示其潜在分子遗传机制。进一步广泛研究也势在必行，包括对这些发现的确认、确定新的治疗靶点以及推进AMD的一级和二级预防策略。
