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Genome-wide Association Studies-GWAS

Genome-wide Association Studies-GWAS

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...

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Glaucoma: Overview

Glaucoma: Overview

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...

Incomplete Dominance

Incomplete Dominance

Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.

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Related Experiment Video

Updated: Jul 5, 2025

Laser Capture Microdissection of Highly Pure Trabecular Meshwork from Mouse Eyes for Gene Expression Analysis

Laser Capture Microdissection of Highly Pure Trabecular Meshwork from Mouse Eyes for Gene Expression Analysis

Published on: June 3, 2018

Making glaucoma genetic studies more diverse.

David A Mackey¹, Sandra E Staffieri²

¹Lions Eye Institute, University of Western Australia, Perth, WA, Australia; Menzies Institute for Medical Research, University of Tasmania, Hobart, TAS, Australia.

|January 19, 2024

Summary

This summary is machine-generated.

Glaucoma genetic studies now include African ancestry, revealing shared risk factors with European populations. This research refines polygenic risk scores for glaucoma in African ancestry individuals.

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Full-Circle Cauterization of Limbal Vascular Plexus for Surgically Induced Glaucoma in Rodents

Full-Circle Cauterization of Limbal Vascular Plexus for Surgically Induced Glaucoma in Rodents

Published on: February 15, 2022

Area of Science:

Ophthalmology
Genetics
Population Health

Background:

Glaucoma is a leading cause of blindness, disproportionately affecting individuals of African ancestry.
Previous genetic research on glaucoma has largely excluded diverse populations, primarily focusing on European ancestry.
This gap limits the understanding of glaucoma's genetic architecture across different ancestries.

Purpose of the Study:

To conduct a genome-wide association study (GWAS) for glaucoma specifically in individuals of African ancestry.
To identify genetic variants associated with glaucoma risk in this underrepresented population.
To compare findings with existing GWAS data from European ancestry cohorts and refine polygenic risk scores.

Main Methods:

Genome-wide association study (GWAS) in a cohort of individuals of African ancestry.
Analysis of genetic variants and their association with glaucoma.
Comparison of identified loci with those previously reported in European ancestry GWAS.
Development and refinement of a polygenic risk score (PRS) tailored for African ancestry.

Main Results:

Identification of genetic loci associated with glaucoma risk in individuals of African ancestry.
Demonstration of significant overlap in glaucoma-associated genetic factors between African and European ancestries.
Refinement of a polygenic risk score, improving its predictive accuracy for glaucoma in African ancestry populations.

Conclusions:

Genetic studies for glaucoma must prioritize diverse ancestries to ensure equitable understanding and treatment.
Shared genetic risk factors exist for glaucoma across ancestries, but ancestry-specific variants also contribute.
Improved polygenic risk scores for African ancestry can aid in earlier glaucoma detection and intervention.