The GEnes in Myopia (GEM) study in understanding the aetiology of refractive errors

Baird, Paul N.; Schäche, Maria; Dirani, Mohamed

doi:10.1016/j.preteyeres.2010.05.004

Cited by 78 publications

(43 citation statements)

References 149 publications

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“…Only in the Genes in Myopia cohort 22 could we obtain Caucasian genotypes for both rs10453441 and rs200329677, so that we could assess the linkage disequilibrium (LD) between these two SNPs in Caucasians. They were in moderate LD (…”

Section: Resultsmentioning

confidence: 99%

Identification of myopia-associated WNT7B polymorphisms provides insights into the mechanism underlying the development of myopia

et al. 2015

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Myopia can cause severe visual impairment. Here, we report a two-stage genome-wide association study for three myopia-related traits in 9,804 Japanese individuals, which was extended with trans-ethnic replication in 2,674 Chinese and 2,690 Caucasian individuals. We identify WNT7B as a novel susceptibility gene for axial length (rs10453441, P meta ¼ 3.9 Â 10 À 13 ) and corneal curvature (P meta ¼ 2.9 Â 10 À 40 ) and confirm the previously reported association between GJD2 and myopia. WNT7B significantly associates with extreme myopia in a case-control study with 1,478 Asian patients and 4,689 controls (odds ratio (OR) meta ¼ 1.13, P meta ¼ 0.011). We also find in a mouse model of myopia downregulation of WNT7B expression in the cornea and upregulation in the retina, suggesting its possible role in the development of myopia.

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Section: Resultsmentioning

confidence: 99%

Identification of myopia-associated WNT7B polymorphisms provides insights into the mechanism underlying the development of myopia

et al. 2015

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“…PPV in girls was 50% but 100% in boys which may indicate progression of refractive error is different between genders, and thus estimation of risk should be ideally performed separately for boys and girls. Further work should be done to improve the PPV, such as including more risk factors in the prediction, i.e., history of myopic parents [24,25], environmental factors such as outdoor activity time [26,27], near work time, [28,29] and optical biometry. Further follow-up to determine progression rates may also improve predictive power[30].…”

Section: Discussionmentioning

confidence: 99%

Identifying Children at Risk of High Myopia Using Population Centile Curves of Refraction

et al. 2016

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PurposeTo construct reference centile curves of refraction based on population-based data as an age-specific severity scale to evaluate their efficacy as a tool for identifying children at risk of developing high myopia in a longitudinal study.MethodsData of 4218 children aged 5–15 years from the Guangzhou Refractive Error Study in Children (RESC) study, and 354 first-born twins from the Guangzhou Twin Eye Study (GTES) with annual visit were included in the analysis. Reference centile curves for refraction were constructed using a quantile regression model based on the cycloplegic refraction data from the RESC. The risk of developing high myopia (spherical equivalent ≤ -6 diopters [D]) was evaluated as a diagnostic test using the twin follow-up data.ResultsThe centile curves suggested that the 3rd, 5th, and 10th percentile decreased from -0.25 D, 0.00 D and 0.25 D in 5 year-olds to -6.00 D, -5.65D and -4.63 D in 15 year-olds in the population-based data from RESC. In the GTES cohort, the 5th centile showed the most effective diagnostic value with a sensitivity of 92.9%, a specificity of 97.9% and a positive predictive value (PPV) of 65.0% in predicting high myopia onset (≤-6.00D) before the age of 15 years. The PPV was highest (87.5%) in 3rd centile but with only 50.0% sensitivity. The Mathew’s correlation coefficient of 5th centile in predicting myopia of -6.0D/-5.0D/-4.0D by age of 15 was 0.77/0.51/0.30 respectively.ConclusionsReference centile curves provide an age-specific estimation on a severity scale of refractive error in school-aged children. Children located under lower percentiles at young age were more likely to have high myopia at 15 years or probably in adulthood.

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“…A number of previous studies have extensively examined the impact of genetic effects on myopia in humans (44)(45)(46). The analysis of genes involved in the scleral extracellular matrix (ECM) is a common feature of studies on syndromic high myopia (47).…”

Section: Discussionmentioning

confidence: 99%

Association between parental myopia and the risk of myopia in a child

Zhang

Zhou

2015

Experimental and Therapeutic Medicine

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Abstract. The association between parental myopia and a child's risk of developing the condition is not well understood. Therefore, the present study conducted a meta-analysis of the results of observational studies in order to investigate the association between myopia in parents and their child's risk of developing the condition. The current study systematically examined the databases MEDLINE, Embase and Ovid for relevant studies. Two reviewers independently evaluated the data and extracted the odds ratios (ORs) and 95% confidence intervals (CIs) from the suitable studies. Heterogeneity, publication bias and subgroup analyses were performed. The present meta-analysis included 31,677 participants from 16 studies with 8,393 cases of myopia (six prospective cohort, eight cross-sectional and two case-control studies). The OR of giving birth to a child with myopia, according to the prospective cohort, cross-sectional and case-control studies, was 1.53 (95% CI, 1.21-1.85), 1.96 (95% CI, 1.53-2.39), and 2.13 (95% CI, 1.79-2.46), respectively, when one parent had myopia, and 2.10 (95% CI, 1.42-2.77), 2.96 (95% CI, 2.21-3.71), and 2.13 (95% CI, 1.79-2.46), respectively, when two parents had myopia. The current study identified a significant positive association between parental myopia and a child's risk of developing myopia. Children of two parents with myopia had a higher risk of developing myopia compared to those with one myopic parent.

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The GEnes in Myopia (GEM) study in understanding the aetiology of refractive errors

Cited by 78 publications

References 149 publications

Identification of myopia-associated WNT7B polymorphisms provides insights into the mechanism underlying the development of myopia

Identification of myopia-associated WNT7B polymorphisms provides insights into the mechanism underlying the development of myopia

Identifying Children at Risk of High Myopia Using Population Centile Curves of Refraction

Association between parental myopia and the risk of myopia in a child

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