Department of Ophthalmology, Faculty of Medicine, University of Yamanashi, Shimokato 1110, Chuo, Yamanashi, 409- 3898, Japan.
Curr Neuropharmacol. 2018;16(7):933-941. doi: 10.2174/1570159X15666170718142406.
Glaucoma is a neurodegenerative disease characterized by the progressive loss of retinal ganglion cells and optic nerve axons. According to its anatomical features, glaucoma is mainly subdivided into primary open-angle glaucoma (POAG) and primary angle-closure glaucoma (PACG). Exfoliation syndrome (XFS) and glaucoma (XFG) are characterized by the accumulation of extracellular materials in ocular tissues, particularly the lens surface and pupillary border. In addition to the two major forms of glaucoma, XFG is the most common cause of secondary open-angle glaucoma. Recent genome-wide association studies(GWASs) revealed genetic loci associated with each glaucoma subtype.
Review of literatures regarding GWASs for POAG, PACG and XFS.
Several genetic loci were found to be independently associated with POAG, PACG, and XFS by large-scale GWASs.
Genetic studies may not only provide a better understanding of the pathophysiological mechanisms underlying the diseases, but also facilitate the development of new drugs or treatments.
青光眼是一种神经退行性疾病，其特征是视网膜神经节细胞和视神经轴突进行性丧失。根据其解剖学特征，青光眼主要分为原发性开角型青光眼（POAG）和原发性闭角型青光眼（PACG）。剥脱综合征（XFS）和青光眼（XFG）的特征是细胞外物质在眼部组织中积聚，特别是在晶状体表面和瞳孔缘。除了两种主要类型的青光眼外，XFG 是继发性开角型青光眼最常见的原因。最近的全基因组关联研究（GWAS）揭示了与每种青光眼亚型相关的遗传位点。
对 POAG、PACG 和 XFS 的 GWAS 文献进行综述。
大规模 GWAS 发现了几个与 POAG、PACG 和 XFS 独立相关的遗传位点。
遗传研究不仅可以更好地了解疾病的病理生理机制，还可以促进新药或治疗方法的开发。
