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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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Related Experiment Video

Updated: Jun 7, 2025

Three Different Protocols of Corneal Collagen Crosslinking in Keratoconus: Conventional, Accelerated and Iontophoresis

Three Different Protocols of Corneal Collagen Crosslinking in Keratoconus: Conventional, Accelerated and Iontophoresis

Published on: November 12, 2015

Developing and validating a comprehensive polygenic risk score to enhance keratoconus risk prediction.

Weixiong He^1,2, Urmo Võsa^3,4, Teele Palumaa^4,5,6

¹QIMR Berghofer Medical Research Institute, 300 Herston Road, Herston, Queensland 4006, Australia.

Human Molecular Genetics

|November 13, 2024

Summary

A new polygenic risk score (PRS) effectively predicts keratoconus risk, aiding in preventing vision loss and post-LASIK ectasia. This PRS tool shows promise for clinical application in identifying high-risk individuals.

Keywords:

Estonian Biobank GWAS PRS The UK Biobank keratoconus

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Related Experiment Videos

Last Updated: Jun 7, 2025

Three Different Protocols of Corneal Collagen Crosslinking in Keratoconus: Conventional, Accelerated and Iontophoresis

Three Different Protocols of Corneal Collagen Crosslinking in Keratoconus: Conventional, Accelerated and Iontophoresis

Published on: November 12, 2015

Implementation of a Real-Time Psychosis Risk Detection and Alerting System Based on Electronic Health Records using CogStack

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Published on: May 15, 2020

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

Area of Science:

Ophthalmology
Genetics
Bioinformatics

Background:

Keratoconus is a progressive eye condition leading to visual impairment.
Identifying individuals at high risk is crucial for timely intervention and preventing complications like post-LASIK ectasia.
Current risk prediction methods for keratoconus require enhancement.

Purpose of the Study:

To develop and validate a comprehensive polygenic risk score (PRS) for keratoconus.
To improve the accuracy of identifying individuals with elevated keratoconus risk.
To aid in the prevention of keratoconus-associated visual impairment.

Main Methods:

Utilized multi-trait analysis approach (MTAG) with genome-wide association study data for keratoconus and related traits.
Constructed multiple PRS models using various methodologies.
Evaluated PRS predictive performance in the Estonian Biobank (EstBB) and UK Biobank (UKB) using Area Under the Curve (AUC) and Odds Ratios (ORs).

Main Results:

PRS models demonstrated significant predictive capabilities in EstBB (AUC=0.72) and UKB.
The SBayesRC model achieved a high OR of 2.28 in EstBB.
In UKB, incorporating PRS into a model with corneal measurements increased AUC from 0.84 to 0.88, with an OR of 4.26.

Conclusions:

Developed PRS models significantly enhance keratoconus risk prediction.
These models show potential for clinical utility in identifying at-risk individuals.
The PRS may help mitigate the risk of post-LASIK ectasia.