Primary angle closure glaucoma genomic associations and disease mechanism.
Liu Chang, Nongpiur Monisha E, Khor Chiea-Chuen, Vithana Eranga N, Aung Tin
AI Summary
Recent GWAS identified new genetic loci for primary angle closure glaucoma, showing partial overlap with open-angle glaucoma. This genetic insight improves understanding of disease mechanisms, potentially guiding new therapies.
Abstract
Purpose of review: The genetic basis of primary angle closure (PAC) glaucoma is slowly being elucidated. In recent years, genome-wide association studies have identified eight new susceptibility loci for PAC. Our purpose in this review is to summarize our current knowledge of genetics in angle closure, to take a closer look at the eight novel loci and what we have learned about their function, and consider what they might teach us about angle closure disease.
Recent findings: Multiple novel loci associated with PAC glaucoma have been identified in large genome-wide association studies. Moreover, primary open angle glaucoma and PAC glaucoma are found to have partly overlapping genetic features.
Summary
The genetic basis of PAC glaucoma is being deciphered. Even though there is still much more to be uncovered, this process has already provided new insights in the pathogenesis of this blinding disease. A better understanding of the pathogenic mechanisms through genomics may be valuable for the development of novel therapies.
MeSH Terms
Shields Classification
Key Concepts5
Genome-wide association studies have identified eight new susceptibility loci for primary angle closure glaucoma.
Multiple novel loci associated with primary angle closure glaucoma have been identified in large genome-wide association studies.
Primary open angle glaucoma and primary angle closure glaucoma are found to have partly overlapping genetic features.
The genetic basis of primary angle closure glaucoma is being slowly elucidated.
A better understanding of the pathogenic mechanisms of primary angle closure glaucoma through genomics may be valuable for the development of novel therapies.
Related Articles5
Clinical features of patients with mutations in genes for nanophthalmos.
Observational StudyMFRP, PRSS56, and MYRF account for 60.5% of a Chinese cohort with nanophthalmos.
Cohort StudyBiallelic variants in CPAMD8 are associated with primary open-angle glaucoma and primary angle-closure glaucoma.
Observational StudySmall RNA Sequencing of Aqueous Humor and Plasma in Patients With Primary Open-Angle Glaucoma.
Basic ScienceEvaluation of Primary Angle-Closure Glaucoma Susceptibility Loci for Estimating Angle Closure Disease Severity.
Case-Control StudyIs this article assigned to the wrong chapter(s)? Let us know.