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Related Experiment Video

Updated: Sep 11, 2025

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

Whole Exome Sequencing Study Uncovers Novel Candidate Genes and Protein-Coding Variants for Cataract.

Dima L Chaar¹, Chen Jiang¹, Sarah Y Coomson²

¹Kaiser Permanente Northern California (KPNC), Division of Research, Pleasanton, California, United States.

Investigative Ophthalmology & Visual Science

|August 13, 2025

Summary

This study identified novel genes and variants associated with cataract susceptibility using large-scale genetic data. Findings highlight the role of specific genes in lens biology and visual perception, advancing our understanding of cataract etiology.

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Last Updated: Sep 11, 2025

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Characterization of Molecular Mechanisms of In vivo UVR Induced Cataract

Characterization of Molecular Mechanisms of In vivo UVR Induced Cataract

Published on: November 28, 2012

Area of Science:

Genetics
Ophthalmology
Molecular Biology

Background:

Cataract is a leading cause of vision impairment globally, often linked to genetic factors.
Identifying genetic contributors to cataract susceptibility is crucial for understanding disease mechanisms and developing targeted therapies.

Purpose of the Study:

To discover novel genetic candidates associated with cataract.
To evaluate the role of protein-coding variants in cataract susceptibility.

Main Methods:

Utilized UK Biobank exome data for gene-based and single-variant association testing in cataract cases and controls.
Validated findings with genome-wide association study (GWAS) data from the GERA cohort.
Examined gene expression in human lens tissue using the iSyTE database.

Main Results:

Identified four significant genes (KDM5B, COL2A1, MIP, CRYBB2) associated with cataract, including novel associations for KDM5B.
Discovered seven variants within six genes (BFSP2, ZNF800, MIP, HERC2, TSPAN10, CPAMD8) linked to cataract.
Confirmed expression of most identified cataract genes in lens tissue and enrichment in relevant biological pathways.

Conclusions:

Gene-based and single-variant association testing effectively identifies novel genetic risk factors for cataract.
Cataract-associated genes are significantly expressed in ocular tissues and involved in critical lens-related pathways.