Kondkar Altaf A
Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
Glaucoma Research Chair in Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
Appl Clin Genet. 2021 Mar 9;14:89-112. doi: 10.2147/TACG.S274884. eCollection 2021.
Primary angle-closure glaucoma (PACG) is estimated to affect over 30 million people worldwide by 2040 and is highly prevalent in the Asian population. PACG is more severe and carries three times the higher risk of blindness than primary open-angle glaucoma, thus representing a significant public health concern. High heritability and ethnic-specific predisposition to PACG suggest the involvement of genetic factors in disease development. In the recent past, genetic studies have led to the successful identification of several genes and loci associated with PACG across different ethnicities. The precise cellular and molecular roles of these multiple loci in the development and progression of PACG remains to be elucidated. Nonetheless, these studies have significantly increased our understanding of the emerging cellular processes and biological pathways that might provide more significant insights into the disease's genetic etiology and may be valuable for future clinical applications. This review aims to summarize and update the current knowledge of PACG genetics analysis research.
据估计,到2040年,全球原发性闭角型青光眼(PACG)患者将超过3000万,且在亚洲人群中高度流行。PACG比原发性开角型青光眼更为严重,失明风险高出三倍,因此是一个重大的公共卫生问题。PACG的高遗传性和种族特异性易感性表明遗传因素参与了疾病的发展。最近,基因研究已成功鉴定出多个不同种族中与PACG相关的基因和基因座。这些多个基因座在PACG发生和发展过程中的确切细胞和分子作用仍有待阐明。尽管如此,这些研究显著增进了我们对新出现的细胞过程和生物学途径的理解,这些过程和途径可能为该疾病的遗传病因提供更重要的见解,并可能对未来的临床应用具有重要价值。本综述旨在总结和更新PACG遗传学分析研究的当前知识。