Dataset Information

Genome-Wide Association of Genetic Variants With Refraction, Axial Length, and Corneal Curvature: A Longitudinal Study of Chinese Schoolchildren.

ABSTRACT: Background:Myopia is a common eye disorder that is approaching epidemic proportions worldwide. A genome-wide association study identified AREG (rs12511037), GABRR1 (rs13215566), and PDE10A (rs12206610) as being associated with refractive error in Asian populations. The present study investigated the associations between these three genetic variants and the occurrence and development of myopia, spherical equivalent refraction (SER), axial length (AL), and corneal curvature (CC) in a cohort of southeastern Chinese schoolchildren. Methods:We examined and followed 550 children in grade 1 enrolled in the Wenzhou Epidemiology of Refractive Error (WERE) project. During the 4-year follow-up, non-cycloplegic refraction was evaluated twice each year, and the AL and CC were measured once every year. Age, sex, and the amounts of time spent on near work and outdoors were documented with a questionnaire. Sanger DNA sequencing was used to genotype single nucleotide polymorphisms (SNPs). SNPtest software was used to identify potential genetic variants associated with myopia, SER, AL, and CC. Ten thousand permutations were used to correct for multiple testing. Results:In total, 469 children, including 249 (53.1%) boys and 220 (46.9%) girls, were included in analyses. The mean age of all the children was 6.33 ± 0.48 years. After adjusting for age, sex, time spent on near work and time spent outdoors, neither the genotypes nor the allele frequencies of the three SNPs were significantly associated with myopic shift, incident myopia or the change in SER. After adjusting for age, sex, near-work time and outdoor time with 10,000 permutations, the genotype AREG (rs12511037) was associated with an increase in AL (P'-values for the dominant, recessive, additive and general models were 0.0032, 0.0275, 0.0045, and 0.0099, respectively); the genotype PDE10A (rs12206610) was associated with a change in CC in the additive (P' = 0.0096), dominant (P' = 0.0096), and heterozygous models (P' = 0.0096). Conclusion:These findings preliminarily indicate that AREG SNP rs12511037 and PDE10A SNP rs12206610 are etiologically relevant for ocular traits, providing a basis for further exploration of the development of myopia and its molecular mechanism. However, elucidating the role of AREG and PDE10A in the pathogenesis of myopia requires further animal model and human genetic epidemiology studies. This trial is registered as ChiCTR1900020584 at www.Chictr.org.cn.

SUBMITTER: Lin Y

PROVIDER: S-EPMC7109285 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature

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Genome-Wide Association of Genetic Variants With Refraction, Axial Length, and Corneal Curvature: A Longitudinal Study of Chinese Schoolchildren.

Lin Yaoyao Y Ding Yu Y Jiang Dandan D Li Chunchun C Huang Xiaoqiong X Liu Linjie L Xiao Haishao H Vasudevan Balamurali B Chen Yanyan Y

Frontiers in genetics 20200325

<h4>Background</h4>Myopia is a common eye disorder that is approaching epidemic proportions worldwide. A genome-wide association study identified <i>AREG</i> (rs12511037), <i>GABRR1</i> (rs13215566), and <i>PDE10A</i> (rs12206610) as being associated with refractive error in Asian populations. The present study investigated the associations between these three genetic variants and the occurrence and development of myopia, spherical equivalent refraction (SER), axial length (AL), and corneal curv ...[more]

PMID: 32269590

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Project description:PurposeTo assess the changing profile of astigmatism in Chinese schoolchildren and the association between astigmatism changes and ocular biometry.MethodsWe examined and followed up 1,463 children aged 6-9 years from Wenzhou, China. We measured noncycloplegic refraction twice each year and tested axial length (AL) and corneal radius of curvature (CRC) annually for two years. We defined clinically significant astigmatism (CSA) as ≤-0.75 diopter (D) and non-CSA astigmatism as ≤0 to >-0.75 D.ResultsPrevalence of CSA at baseline was 22.4% (n = 327) and decreased to 20.3% (n = 297) at the two-year follow-up (P = 0.046). Ninety-two (8.1%) non-CSA children developed CSA. In multiple regression, after adjusting for age, gender, baseline cylinder refraction, and axis, children who had longer baseline ALs (>23.58 mm; odds ratio (OR) = 5.19, 95% confidence interval (CI): 2.72-9.90) and longer baseline AL/CRC ratio (>2.99, OR = 4.99, 95% CI: 2.37-10.51) were more likely to develop CSA after two years. Four-hundred and two (27.5%) children had increased astigmatism, 783 (53.5%) had decreased, and 278 (19.0%) had no change during the two-year follow-up. Children with increased astigmatism had longer baseline ALs (23.33 mm, P < 0.001), higher AL/CRC ratios (2.99 mm, P < 0.001), and more negative spherical equivalent refraction (SER) (-0.63 D, P < 0.001) compared with the decreased and no astigmatism change subgroups. Also, children in the increased astigmatism subgroup had more AL growth (0.68 mm, P < 0.001), higher increases in AL/CRC ratio (0.08, P < 0.001), and more negative SER change (-0.86 D, P < 0.001) compared with the decreased and no astigmatism change subgroups.ConclusionsThe prevalence of astigmatism decreased slightly over the two-year study period. Longer ALs and higher AL/CRC ratios were independent risk factors for developing CSA. Increased astigmatism was associated with AL growth, AL/CRC ratio increases, and the development of myopia. This trial is registered with ChiCTR1800019915.

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:ObjectiveTo identify associations between anthropometric indicators (height, weight and body mass index (BMI)) and both refraction and ocular biometrics in Chinese schoolchildren in Tianjin, China.DesignCross-sectional study.ParticipantsA total of 482 (86.07%) students (6-15 years old) with no history of ocular or systemic pathologies were enrolled in this study.MethodologyHeight and weight were measured using standardised protocols. Ocular biometrics (axial length (AL), vitreous chamber depth (VCD) and corneal curvature (CC)) were measured by a low-coherence optical reflectometry device. Cycloplegic refraction was measured using autorefraction. The AL/CC ratio and spherical equivalent refraction (SER) were calculated. Myopia was defined as SER ≤-0.50 dioptres (D). Multiple linear regression analysis was performed to explore the associations between anthropometric indicators (height, weight and BMI) and both refraction and ocular biometrics.ResultsThe overall prevalence of myopia was 71.16%. Overall, only height was associated with ALs, VCDs, AL/CC ratios and refractions after controlling for age, gender, parental myopia, family income, reading and writing distance and time spent outdoors. Furthermore, age-specific results demonstrated that height and weight were independently associated with refraction in participants aged 6-8 years and 9-11 years participants. Higher heights in schoolchildren were associated with longer ALs (regression coefficient b=+0.25 for each 10 cm difference in height, p<0.01), deeper VCDs (b=+0.23, p<0.01), higher AL/CC ratios (b=+0.04, p<0.01) and more negative refractions (b=-0.48, p<0.01). Heavier weights were also associated with longer ALs (+0.29 mm, p<0.01), deeper VCDs (+0.29 mm, p<0.01), higher AL/CC ratios (+0.04, p<0.01) and more negative refractions (-0.48 D, p<0.01).ConclusionsHeight and weight remained independently related to refraction and various ocular biometrics during the early adolescent growth period after adequately controlling for covariates, which could support the idea that a shared mechanism may regulate the coordinated growth of body and eye size in children.

Dataset Information

Genome-Wide Association of Genetic Variants With Refraction, Axial Length, and Corneal Curvature: A Longitudinal Study of Chinese Schoolchildren.

Publications

Genome-Wide Association of Genetic Variants With Refraction, Axial Length, and Corneal Curvature: A Longitudinal Study of Chinese Schoolchildren.

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