Association of shared gene polymorphisms for refraction and axial length with corneal biomechanical properties in children.

Purpose: To investigate the associations of single-nucleotide polymorphisms (SNPs) for axial length (AL) and spherical equivalent (SE) with corneal biomechanical parameters in children.

Methods: A cohort of 2535 Chinese children, 4-12 years old, underwent measurements of corneal biomechanical properties, including corneal hysteresis (CH), corneal resistance factor (CRF), deformation amplitude (DA), peak distance (PD), highest concavity radius, as well as first and second applanation lengths and velocities (V1 and V2). Fifteen candidate SNPs for AL and SE were genotyped for association analyses.

Results: Overall, ZC3H11B rs994767 and CHD7 rs437036 showed significant associations with DA (β = -0.016, P = 0.0012 and β = 0.018, P = 0.0012, respectively). CHD7 rs437036 was associated with DA (β = 0.030, P = 0.0021) in 4-7-year-old children and ZC3H11B rs994767 with CRF (β = 0.216, P = 0.0027) in 8-12-year-old children. AL genetic risk score (GRS) showed associations with DA (β = 1.625, P = 0.014) and V2 (β = -1.630, P = 0.0019), and SE GRS with CRF (β = -64.94, P = 0.038). Compared to the first, the second and fourth AL GRS quantiles were associated with CH (β = 0.258, P = 0.008; β = 0.303, P = 0.002, respectively) and CRF (β = 0.282, P = 0.014; β = 0.373, P = 0.001, respectively), while the fifth was associated with DA (β = 0.029, P = 0.006), PD (β = 0.158, P = 0.011), V2 (β = -0.037, P = 1.24 ×10), and CH (β = 0.20, P = 0.041). The second SE GRS quantile was associated with V2 (β = -0.020, P = 0.02), and the fifth with CH (β = -0.235, P = 0.049), compared to the first.

Conclusion: ZC3H11B and CHD7 SNPs for AL and SE, along with GRS for both traits, showed associations with various corneal biomechanical parameters, suggesting their potential influence on the structure, composition and shape of eye size-related ocular tissues in children.