Abstract
Purpose :
To investigate the associations of genetic variants previously linked to both axial length and refraction in adults with refractive error and related ocular biometric parameters in Chinese children, at baseline and 3-year follow-up
Methods :
Fifteen candidate single-nucleotide polymorphisms (SNPs), selected from previous genome-wide association studies and meta-analysis, were genotyped in a cohort of 2,819 Chinese children, who had gone through baseline and 3-year follow-up cycloplegic refraction and ophthalmic investigations. Linear regression analyses were conducted to assess the associations of the SNPs with baseline measurements and longitudinal changes in spherical equivalent (SE), spherical power (SPH), axial length (AL), corneal radius of curvature (CR), and axial length/corneal radius of curvature (AL/CR) ratio.
Results :
SNPs ZMAT4 rs7829127 and rs16890057, TOX rs7837791, GRIA4 rs11601239 and RDH5 rs3138142 were associated with both SE (β=0.23, P<0.0033; β=0.22, P<0.0033; β=0.11, P<0.05; β=0.084, P<0.05; β=0.14, P<0.05, respectively) and SPH (β=0.24, P<0033; β=0.23, P<0.0033; β=0.088, P<0.05; β=0.086, P<0.05; β=0.14, P<0.05, respectively). Among them, ZMAT4 rs7829127 and rs16890057 were also associated with AL (β=-0.13, P<0.0033; β=-0.13, P<0.0033, respectively) and AL/CR ratio (β=-0.014, P<0.0033; β=-0.014, P<0.05, respectively), whereas TOX rs7837791 was associated with AL (β=-0.063, P<0.05) and GRIA4 11601239 with AL/CR ratio (β=-0.0058, P<0.05). In addition, CD55 rs1652333 and RDH5 rs3138142 were associated with the longitudinal changes in AL (β=0.063, P<0.05; β=-0.081, P<0.05, respectively) and CR (β=0.018, P<0.05; β=-0.025, P<0.05, respectively).
Conclusions :
This study demonstrated shared genetic variants in ZMAT4, TOX, GRIA4, and RDH5 for refractive error and related endophenotypes in children, suggesting their involvement in eye growth and refractive error development from early life.
This abstract was presented at the 2024 ARVO Annual Meeting, held in Seattle, WA, May 5-9, 2024.