Dataset Information

Association of WNT7B and RSPO1 with Axial Length in School Children.

ABSTRACT: Purpose:To evaluate the association between single-nucleotide polymorphisms (SNPs) in the ZC3H11B, RSPO1, C3orf26, GJD2, ZNRF3, and WNT7B genes and myopia endophenotypes in children. Methods:Seven SNPs identified in previous genome-wide association studies of axial length (AL) were genotyped in 2883 Southern Han Chinese children. Multiple linear regression analyses were conducted to evaluate the genotype association with AL, spherical equivalent (SE), corneal curvature (CC), and central corneal thickness (CCT). Results:Two SNPs-namely, rs12144790 in RSPO1 (allele T, P = 0.0066, ? = 0.062) and rs10453441 in WNT7B (allele A, P = 8.03 × 10-6, ? = 0.103)-were significantly associated with AL. The association of rs4373767 in ZC3H11B (allele C, P = 0.030, ? = -0.053) could not withstand the correction for multiple testing. WNT7B rs10453441 showed a strong association with CC (P = 1.17 × 10-14, ? = 0.053) and with CCT (P = 0.0026, ? = 2.65). None of the tested SNPs was significantly associated with SE. The C allele of SNP rs12321 in ZNRF3 was associated with CC (P = 0.0060, ? = -0.018). Conclusions:This study revealed that the RSPO1 SNP rs12144790 was associated with AL, whereas WNT7B rs10453441 was associated with AL, CC, and CCT in children. A novel association between ZNRF3 rs12321 and CC was discovered. Our data suggest that the RSPO1 and WNT7B genes might exert their effects on multiple aspects of eye growth during childhood. Potential differences in the genetic profiles of AL between children and adults should be explored in larger cohorts.

SUBMITTER: Lu SY

PROVIDER: S-EPMC7441295 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature

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Association of WNT7B and RSPO1 with Axial Length in School Children.

Lu Shi Yao SY Tang Shu Min SM Li Fen Fen FF Kam Ka Wai KW Tam Pancy O S POS Yip Wilson W K WWK Young Alvin L AL Tham Clement C CC Pang Chi Pui CP Yam Jason C JC Chen Li Jia LJ

Investigative ophthalmology & visual science 20200801 10

<h4>Purpose</h4>To evaluate the association between single-nucleotide polymorphisms (SNPs) in the ZC3H11B, RSPO1, C3orf26, GJD2, ZNRF3, and WNT7B genes and myopia endophenotypes in children.<h4>Methods</h4>Seven SNPs identified in previous genome-wide association studies of axial length (AL) were genotyped in 2883 Southern Han Chinese children. Multiple linear regression analyses were conducted to evaluate the genotype association with AL, spherical equivalent (SE), corneal curvature (CC), and c ...[more]

PMID: 32761137

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Project description:BackgroundMyopic shift had been observed during the COVID-19 lockdown in young school children. It remains unknown whether myopic shift is accompanied with increase in axial length. We aimed to evaluate the impact of the COVID-19 lockdown on myopia and axial length of school children in China by comparing them before, during and after the lockdown.MethodsIn this population-based cross-sectional study, school-based myopia screenings were conducted in the Fall of 2019, 2020, and 2021 (representing before, during and after COVID-19 lockdown respectively) in Chengdu, China. Myopia screenings were performed on 83,132 students aged 6 to 12 years. Non-cycloplegic refractive error was examined using NIDEK auto-refractor (ARK-510A; NIDEK Corp., Tokyo, Japan) and axial length was measured using AL-Scan (NIDEK Corp., Tokyo, Japan). Spherical equivalent (SER, calculated as sphere+ 0.5*cylinder), prevalence of myopia (SER ≤ -0.50 D), and axial length were compared across 3 years stratified by age.ResultsMyopia prevalence rate was 45.0% (95% CI: 44.6-45.5%) in 2019, 48.7% (95% CI: 48.3-49.1%) in 2020, and 47.5% (95% CI: 47.1-47.9%) in 2021 (p < 0.001). The mean non-cycloplegic SER (SD) was -0.70 (1.39) D, -0.78 (1.44) D, and -0.78 (1.47) D respectively (p < 0.001). The mean (SD) axial length was 23.41 (1.01) mm, 23.45 (1.03) mm, and 23.46 (1.03) mm across 3 years respectively (p < 0.001). From the multivariable models, the risk ratio (RR) of myopia was 1.07 (95% CI: 1.06-1.08) times, the SER was 0.05 D (95% CI: 0.04 D to 0.06 D) more myopic and the mean axial length increased by 0.01 mm (95% CI: 0.01 mm to 0.02 mm) in 2020 compared to 2019. In 2021, the risk ratio (RR) of myopia was 1.05 (95% CI: 1.04-1.06), the mean SER was 0.06 D (95% CI: 0.05 D to 0.07 D) more myopic, and the mean axial length increased by 0.03 mm (95% CI: 0.02 mm to 0.04 mm) compared to 2019.ConclusionsThe COVID-19 lockdown had significant impact on myopia development and axial length, and these impacts remained 1 year after the lockdown. Further longitudinal studies following-up with these students are needed to help understand the long-term effects of COVID-19 lockdown on myopia.

Project description:Background: This is a cross-sectional study to further understand the effects of axial length elongation on the corneal endothelial cell's morphology in myopic children. Abnormal changes in the morphology of corneal endothelium are indicators of corneal stress or instability which could be linked to myopia. Methods: 111 school children comprising of 37 emmetropes, 37 mild myopes and 37 moderate myopes aged 8-9 years old were recruited. Visual acuity was measured using the LogMar chart, cycloplegic refraction was determined using an open-field autorefractor (Grand Seiko WAM-5100, Hiroshima, Japan) and refined using subjective refraction. Morphology of corneal endothelial cells [endothelial cell density, coefficient of variation, hexagonality and central corneal thickness] was evaluated using a non-contact specular microscope (Topcon SP-2000P). Axial length was measured with A-scan ultrasound biometry (PacScan Plus, Sonomed Escalon, NY). The correlation between morphology of corneal endothelial cells and axial length were assessed using Pearson Correlation and Linear regression analysis. Results: There was no significant difference in corneal endothelial cells and axial length between gender (p>0.05). Significant reduction in endothelial cells density and hexagonality and increased coefficient of variation was found in eyes of higher myopic power which had longer axial when compared to emmetropes (p<0.001). Except for central corneal thickness, all corneal endothelial cells parameters correlated significantly with axial length (p<0.05). For every 1mm increase in axial length, endothelial cells density decreased by 73.27cells/mm 2, hexagonality decreased by 2.32% and coefficient of variation increased by 1.75%. Conclusions: There were significant changes in morphology of cornea endothelial cells in young moderate myopic children of Chinese ethnicity at 8-9 years of age. This result provides normative data for Malaysian children of Chinese ethnicity that can be used for comparison and reference for clinical procedures, thereby facilitating decision-making with respect to interventions for myopia control, especially in prescribing contact lens for children.

Project description:Clinical relevanceIdentification of individuals with a higher risk of developing refractive error under specific gene and environmental backgrounds, especially myopia, could enable more personalized myopic control advice for patients.BackgroundRefractive error is a common disease that affects visual quality and ocular health worldwide. Its mechanisms have not been elaborated, although both genes and the environment are known to contribute to the process. Interactions between genes and the environment have been shown to exert effects on the onset of refractive error, especially myopia. Axial length elongation is the main characteristic of myopia development and could indicate the severity of myopia. Thus, the purpose of the study was to investigate the interaction between environmental factors and genetic markers of VIPR2 and their impact on spherical equivalence and axial length in a population of Han Chinese children.MethodsA total of 1825 children aged 13~15 years in the Anyang Childhood Eye Study (ACES) were measured for cycloplegic autorefraction, axial length, and height. Saliva DNA was extracted for genotyping three single-nucleotide polymorphisms (SNPs) in the candidate gene (VIPR2). The median outdoor time (2 h/day) was used to categorize children into high and low exposure groups, respectively. Genetic quality control and linear and logistic regressions were performed. Generalized multifactor dimensional reduction (GMDR) was used to investigate gene-environment interactions.ResultsThere were 1391 children who passed genetic quality control. Rs2071623 of VIPR2 was associated with axial length (T allele, β=-0.11 se=0.04 p=0.006), while SNP nominally interacted with outdoor time (T allele, β=-0.17 se=0.08 p=0.029). Rs2071623 in children with high outdoor exposure had a significant interaction effect on axial length (p=0.0007, β=-0.19 se=0.056) compared to children with low outdoor exposure. GMDR further suggested the existence of an interaction effect between outdoor time and rs2071623.ConclusionsRs2071623 within VIPR2 could interact with outdoor time in Han Chinese children. More outdoor exposure could enhance the protective effect of the T allele on axial elongation.

Dataset Information

Association of WNT7B and RSPO1 with Axial Length in School Children.

Publications

Association of WNT7B and RSPO1 with Axial Length in School Children.

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