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Abstract
Aims To investigate the associations of genetic variants previously linked to axial length (AL) and spherical equivalent refraction (SE) in adults with refractive error and related endophenotypes in children, at baseline and 3-year follow-up.
Methods 15 candidate single-nucleotide polymorphisms (SNPs), selected from previous Genome-Wide Association Studies and meta-analyses, were genotyped in 2819 Chinese children, who had undergone baseline and 3-year follow-up cycloplegic refraction, ocular biometry and ocular health examinations. Linear regression analyses were conducted to assess the associations of the SNPs with baseline measurements and longitudinal changes in SE, spherical power (SPH), AL, corneal radius of curvature (CR) and AL/CR ratio.
Results SNPs ZMAT4 rs7829127, ZMAT4 rs16890057, TOX rs7837791, GRIA4 rs11601239 and RDH5 rs3138142 were associated with SE (β=0.233, p=4.21×10−4; β=0.221, p=7.87×10−4; β=0.106, p=0.0076; β=0.084, p=0.041; β=0.14, p=0.013, respectively) and SPH (β=0.24, p=2.3×10−4; β=0.232, p=3.8×10−4; β=0.088, p=0.025; β=0.086, p=0.034; β=0.14, p=0.012, respectively). Among them, ZMAT4 rs7829127 and rs16890057, were also associated with AL (β=−0.128, p=5.6×10−4; β=−0.128, p=5.21×10−4) and AL/CR ratio (β=−0.014, p=0.0028; β=−0.014, p=0.0034), whereas TOX rs7837791 was associated with AL (β=−0.062, p=0.0058) and GRIA4 11 601 239 with AL/CR ratio (β=−0.0058, p=0.049). Additionally, CD55 rs1652333 and RDH5 rs3138142 were associated with 3-year longitudinal changes in AL (β=0.062, p=0.018; β=−0.079, p=0.029) and CR (β=0.014, p=0.027; β=−0.018, p=0.035).
Conclusion Among SNPs previously associated with AL and SE in adults, variants in ZMAT4, TOX and GRIA4 were associated with AL, SE, SPH, and/or AL/CR ratio, while variants in RDH5 and CD55 showed associations with AL and CR changes in children.
- Optics and Refraction
- Genetics
- Humans
- Child health (paediatrics)
Data availability statement
Data are available on reasonable request. All data relevant to the study are included in the article or uploaded as online supplemental information.
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Data availability statement
Data are available on reasonable request. All data relevant to the study are included in the article or uploaded as online supplemental information.
Footnotes
X @JasonYam7
Contributors EZ, XZ, JCY and LJC conceived the idea and designed the study; XZ, JCY, LJC, KWK, WWKY and ALY recruited the study subjects and performed clinical examinations; XZ, KWK, JCY and LJC contributed to data acquisition of the study; EZ, ES, YW and YZ contributed to data analysis of the study; EZ, ES, YW and POST performed the experiments; EZ drafted the manuscript; ALY, CCT, C-PP, JCY and LJC provided critical review on the manuscript. All authors approved the submitted version. LJC will act as the guarantor.
Funding The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper. The work in this paper was supported by the research grants from the Health and Medical Research Fund Hong Kong (05160836 & 07180256 (LJC)); the HKAM-HKGI Research Excellence Grants in Genomic Medicine (AM-GI-GG-2023-01, (LJC)); the General Research Fund, Hong Kong (14111515 and 14103419 (JCY)); Direct Grants from the Chinese University of Hong Kong (4054695, 4054628 and 4054486 ([LJC)); the Endowment Fund for Lim Por-Yen Eye Genetics Research Centre, Hong Kong; the Centaline Myopia Fund (JCY); National Natural Science Foundation of China (8217040098 (JCY)); the Innovation and Technology Fund (7010590 (JCY)); the CUHK Jockey Club Myopia Prevention Programme (No grant no., (JCY)) and the CUHK Jockey Club Children Eye Care Programme (No grant no (JCY)).
Competing interests None declared.
Provenance and peer review Not commissioned; externally peer reviewed.
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