Related Experiment Video
Updated: Apr 19, 2026
09:34
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
35.1K
Exome array analysis identifies CAV1/CAV2 as a susceptibility locus for intraocular pressure
Fei Chen1, Alison P Klein1, Barbara E K Klein2
1Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, Maryland, United States.
Investigative Ophthalmology & Visual Science
|December 20, 2014
Summary
This study identified novel genetic variants influencing intraocular pressure (IOP), a key factor in glaucoma risk. Findings highlight the role of rare variants and caveolin genes in IOP regulation and primary open-angle glaucoma (POAG).
Area of Science:
- Ophthalmology
- Genetics
- Molecular Biology
Background:
- Intraocular pressure (IOP) is crucial for eye health assessment.
- Elevated IOP is a significant risk factor for primary open-angle glaucoma (POAG).
Purpose of the Study:
- To identify rare and less common genetic variants affecting intraocular pressure.
- To explore genetic underpinnings of IOP variations and their link to POAG.
Main Methods:
- Exome array analysis of 1660 individuals from the Beaver Dam Eye Study.
- Genome-wide association testing of 45,849 single nucleotide variants and 12,390 autosomal genes for IOP association.
Main Results:
- Suggestive associations found for novel variants in FAR2, GGA3, and PKDREJ.
- Gene-based analysis indicated associations with HAP1, MTBP, FREM3, and PHF12.
- Replicated associations with GAS7 and identified a POAG locus in CAV1/CAV2, confirmed by meta-analysis.
Conclusions:
- Novel genetic variants and genes with multiple rare variants may regulate IOP.
- Caveolin genes (CAV1/CAV2) may be a common factor in IOP variation and POAG, offering insights into glaucoma mechanisms.
Related Concept Videos
01:25Glaucoma: Overview
1.7K
Glaucoma is an eye condition characterized by increased intraocular pressure that damages the retina and optic nerve, leading to irreversible blindness if left untreated. The human eye has various components, including the cornea, iris, pupil, lens, and optic nerve. Aqueous humor is secreted by the epithelium of the ciliary body in the posterior chamber and flows through the trabecular meshwork and canal of Schlemm, maintaining normal intraocular pressure. The trabecular meshwork and the canal...
1.7K
01:11Genome-wide Association Studies-GWAS
17.2K
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
GWAS does not require the identification of the target gene involved in...
17.2K
01:11Genetic Lingo
119.2K
Overview
119.2K
01:27Open Angle Glaucoma: Treatment
1.1K
In open-angle glaucoma, the iridocorneal angle remains open, but the trabecular meshwork becomes stiff, slowing down the outflow of aqueous humor. This causes a buildup of aqueous humor in the anterior chamber, leading to a sudden increase in intraocular pressure. The treatment for open-angle glaucoma focuses on reducing the elevated intraocular pressure by either decreasing the secretion of aqueous humor or increasing its outflow.
Drugs such as carbonic anhydrase inhibitors, α2- and...
Drugs such as carbonic anhydrase inhibitors, α2- and...
1.1K
01:28Angle Closure Glaucoma: Treatment
1.7K
Angle-closure glaucoma, or closed-angle glaucoma, is an eye condition where the iris bulges out and blocks the iridocorneal angle, resulting in a buildup of aqueous humor and increased intraocular pressure. Immediate medical attention is necessary due to the sudden onset of symptoms. The treatment for angle-closure glaucoma includes short-term and long-term approaches. Short-term treatment involves using eye drops like pilocarpine to lower intraocular pressure by increasing aqueous humor...
1.7K
01:29Increased Intracranial Pressure ll: Pathophysiology
2
Increased intracranial pressure (ICP) refers to a potentially life-threatening rise in pressure inside the skull. This usually happens when there is a major change in the volume of brain tissue, blood, or cerebrospinal fluid (CSF) — the three components inside the skull. According to the Monro-Kellie doctrine, if the volume of one component increases, the volumes of the other components must decrease to maintain normal pressure. If this does not happen, ICP rises.The process often begins...
2