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Updated: Jun 29, 2025
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Laser Capture Microdissection of Highly Pure Trabecular Meshwork from Mouse Eyes for Gene Expression Analysis
Published on: June 3, 2018
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Genetic Associations of Primary Angle-Closure Disease: A Systematic Review and Meta-Analysis
Yu Jing Liang1, Yu Yao Wang1, Shi Song Rong2
1Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong, China.
JAMA Ophthalmology
|March 28, 2024
Summary
Genetic variants significantly impact primary angle-closure disease, with common and rare variants identified across numerous genes. This complex genetic landscape shows ethnic and phenotypic diversity, requiring further investigation.
Area of Science:
- Ophthalmology
- Genetics
- Medical Research
Background:
- The genetic underpinnings of primary angle-closure disease (PACD) are not fully understood.
- Identifying genetic variants associated with PACD is crucial for understanding disease mechanisms and developing targeted therapies.
Purpose of the Study:
- To systematically review and meta-analyze the associations of common single-nucleotide variants (SNVs) and rare coding variants with PACD and its subtypes.
- To explore genetic associations with PACD progression.
Main Methods:
- A comprehensive literature search was conducted in PubMed, Embase, and Web of Science.
- Meta-analysis was performed on eligible studies using fixed- or random-effect models.
- SNV data from UK BioBank and FinnGen were also incorporated.
Main Results:
- Meta-analysis included 69 citations and 206 SNVs in 64 genes/loci.
- Seventeen SNVs in 15 genes/loci were associated with PACD, and 15 SNVs in 13 genes/loci with primary angle-closure glaucoma (PACG).
- Seven new genes/loci associated with PACG were identified, and genetic associations showed ethnic and phenotypic variations.
Conclusions:
- PACD is genetically complex, involving numerous common and rare variants across diverse genes.
- Ethnic and phenotypic heterogeneity in genetic associations was observed.
- Further research, including genotype-phenotype correlation and pathway analysis, is warranted.
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