Abstract
Background
The eye is a sensory organ that receives light and generates visual information. Refractive errors, which are influenced by both genetic and environmental factors, are a major cause of visual impairment. In particular, the high prevalence of myopia in some East Asian countries has become an increasing public health concern.
Objective
To gain insights into the genetic basis of refractive error, this study aimed to identify genetic associations for axial length (AL) and central corneal thickness (CCT), two quantitative ocular traits that contribute to refractive error.
Methods
We conducted genome-wide association (GWA) analyses of 649 Korean individuals using the Korea Biobank Array (KBA) chip to identify genetic variants associated with AL and CCT. After SNP imputation, a total of 9,408,715 common SNPs were included in the association analysis. Additionally, 97,434 rare variants were analyzed using q.emmax test. Gene-based analyses were further performed to detect genes significantly associated with these ocular traits.
Results
The GWA analyses identified 10 common variants (minor allele frequency [MAF] ≥ 1%) significantly associated with AL and 2 with CCT (P < 5 × 10⁻⁸). Analyses of rare variants (MAF < 1%) further detected 7 associations with AL and 2 with CCT. In addition, gene-based analysis identified MROH1 as significantly associated with AL.
Conclusion
This study identified novel genetic associations influencing AL and CCT in the Korean population. These findings provide new insights into the genetic architecture of refractive error and may contribute to improving eye health through the prediction of genetic predisposition to refractive errors.
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Data availability
Summary statistics of association analyses are available from the corresponding author upon reasonable request.
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Acknowledgements
This study was supported by Hallym University Research Fund 2022 (HRF-202401-012).
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All authors made a significant contribution to the work reported. W.Y.L. contributed to manuscript preparation, construction of tables and figures, and statistical analysis. K.D.K. contributed to data collection and synthesis. Y.S.C. contributed to study design, manuscript preparation and revision, and submission of the manuscript.
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Woo Young Lim, Kui Dong Kang, and Yoon Shin Cho declare that they have no conflicts of interest.
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This study was approved by the Institutional Review Board of Hallym University (HIRB-2023-047) and the Institutional Review Board of The Catholic University of Korea Incheon St. Mary’s Hospital (OIRB-00238-004). Written informed consent was obtained from all participants.
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13258_2025_1719_MOESM1_ESM.pptx
Supplementary file1: Supplementary Figure 1. Multidimensional Scaling (MDS) plot of the study samples generated from Korean Biobank Array (KBA) genotype data. Supplementary Figure 2. Regional association plots of common variant GWAS results for axial length. Supplementary Figure 3. Regional association plots of rare variant q.emmax results for axial length. Supplementary Figure 4. Regional association plots of rare variant GWAS results for central corneal thickness. Supplementary Figure 5. Regional association plots of rare variant q.emmax results for central corneal thickness.
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Lim, W.Y., Kang, K.D. & Cho, Y.S. Genome-wide association study of quantitative ocular traits, including axial length and central corneal thickness, identifies loci for refractive error in the Korean population. Genes Genom (2025). https://doi.org/10.1007/s13258-025-01719-7
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DOI: https://doi.org/10.1007/s13258-025-01719-7