Related Experiment Video
Updated: Jul 3, 2026
13:47
Laser Capture Microdissection of Highly Pure Trabecular Meshwork from Mouse Eyes for Gene Expression Analysis
Published on: June 3, 2018
Genome-Wide Association Study for Glucocorticoid-Induced Ocular Hypertension
Jyoti Lama1,2, Renee Liu1, Alicia Huerta-Chagoya3,4
1Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, Massachusetts.
Ophthalmology Science
|July 2, 2026
Summary
This study identified genetic variants, including rs13425173 in UBE2E3, linked to changes in intraocular pressure (IOP) after glucocorticoid (GC) exposure. These findings advance understanding of GC-induced IOP changes and potential genetic markers.
Area of Science:
- Ophthalmology
- Genetics
- Pharmacology
Background:
- Glucocorticoids (GCs) can induce significant changes in intraocular pressure (IOP), a major risk factor for glaucoma.
- Identifying genetic factors influencing GC-induced IOP changes is crucial for personalized treatment strategies.
Purpose of the Study:
- To pinpoint genetic variants associated with glucocorticoid-induced intraocular pressure (IOP) changes.
- Utilize genome-wide association study (GWAS) and whole exome sequencing (WES) for comprehensive genetic analysis.
Main Methods:
- Conducted a pharmacogenetic study involving a discovery cohort (FAME trials) and a replication cohort (MEE/RHC).
- Analyzed DNA from participants exposed to GCs (primarily via intravitreal injection) using GWAS and WES.
- Performed GWAS, WES rare variant gene burden analyses, and expression quantitative trait loci (eQTL) colocalization analysis.
Main Results:
- Identified genome-wide significant variants in the UBE2E3 locus (rs13425173 and rs1040227) associated with GC-induced IOP change.
- UBE2E3 locus showed linkage to gene expression regulation.
- Whole exome sequencing identified MSTO1 as a gene passing false discovery rate correction for GC-induced IOP change in the FAME cohort.
Conclusions:
- Discovered genome-wide significant common variants associated with glucocorticoid-induced intraocular pressure changes.
- Identified specific genes and rare variants potentially influencing intraocular pressure response to GCs.
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