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Updated: Oct 29, 2025

Large-Scale Multi-Omics Genome-Wide Association Studies Mo-GWAS: Guidelines for Sample Preparation and Normalization
Published on: July 27, 2021
Mendelian randomization analysis identified genes pleiotropically associated with central corneal thickness
Zhikun Yang1, Jingyun Yang2,3, Di Liu4
1Department of Ophthalmology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Key Laboratory of Ocular Fundus Diseases, Chinese Academy of Medical Sciences, Beijing, China.
This study identified genes pleiotropically associated with central corneal thickness (CCT) in Europeans. Findings offer insights into CCT genetics and potential therapeutic targets for glaucoma and keratoconus.
Area of Science:
- Genetics
- Ophthalmology
- Bioinformatics
Background:
- Central corneal thickness (CCT) is a key factor in eye health.
- Understanding the genetic underpinnings of CCT is crucial for diagnosing and treating related eye conditions.
- Pleiotropic gene associations with CCT can reveal shared genetic factors with other diseases.
Purpose of the Study:
- To identify genes with pleiotropic or potentially causal associations with central corneal thickness (CCT).
- To prioritize candidate genes for further investigation into CCT regulation.
- To explore genetic links between CCT and other ocular conditions.
Main Methods:
- Applied the summary data-based Mendelian randomization (SMR) method.
- Integrated genome-wide association study (GWAS) data for CCT with expression quantitative trait loci (eQTL) data.
- Conducted separate SMR analyses using CAGE and GTEx eQTL data for European and East Asian ancestries.
Main Results:
- Identified multiple genes significantly associated with CCT in European ancestry participants.
- Top genes identified include CLIC3, PTGDS, and C9orf142 (using CAGE eQTL data).
- No significant pleiotropic associations with CCT were found in East Asian ancestry participants after multiple testing correction.
Conclusions:
- Several genes were identified as pleiotropically associated with CCT, including novel candidates.
- These findings enhance understanding of the genetic factors influencing CCT.
- Identified genes represent potential therapeutic targets for primary open-angle glaucoma and keratoconus.
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