Open AccessUpdates on Genes and Genetic Mechanisms Implicated in Primary Angle-Closure Glaucoma
Author(s) -
Altaf A. Kondkar
Publication year - 2021
Publication title -
application of clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.879
H-Index - 32
ISSN - 1178-704X
DOI - 10.2147/tacg.s274884
Subject(s) - genome wide association study , glaucoma , genetics , trabecular meshwork , candidate gene , disease , population , biology , open angle glaucoma , medicine , bioinformatics , gene , genotype , ophthalmology , pathology , single nucleotide polymorphism , environmental health
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.