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Genetic analysis of axial length genes in high grade myopia from Indian population.

ABSTRACT: PURPOSE:To study the putative association of Membrane frizzled related protein (MFRP) and Visual system homeobox protein (VSX2) gene variants with axial length (AL) in myopia. METHOD:A total of 189 samples with (N = 98) and without (N = 91) myopia were genotyped for the MRFP and VSX2 variations in ABI Prism 3100 AVANT genetic analyzer. Genotype/haplotype analysis was performed using PLINK, Haploview and THESIAS softwares. RESULTS:Fifteen variations were observed in the MFRP gene of which, rs36015759 (c.492C > T, T164T) in exon 5 was distributed at a high frequency in the controls and significantly associated with a low risk for myopia (P = 4.10 ? e(- 07) OR < 1.0). An increased frequency for the coding haplotype block [CGTCGG] harboring rs36015759 was observed in controls (31%) than cases (8%) that also correlated with a decreased mean AL (- 1.35085; P = 0.000444) by THESIAS analysis. The 'T' allele of rs36015759 was predicted to abolish the binding site for splicing enhancer (SRp40) by FASTSNP analysis. CONCLUSION:Myopia is a complex disorder influenced by genetic and environmental factors. Our work shows evidence of association of a specific MFRP haplotype which was more prevalent in controls with decreased AL. However, replication and functional studies are warranted to confirm these findings.

SUBMITTER: Sharmila F

PROVIDER: S-EPMC4287827 | biostudies-literature | 2014 Dec

REPOSITORIES: biostudies-literature

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Genetic analysis of axial length genes in high grade myopia from Indian population.

Sharmila Ferdinamarie F Abinayapriya Ramprabhu Karthikeyan K Kumaramanickavel Govindasamy G R R Sudhir Sripriya Sarangapani S

Meta gene 20140215

<h4>Purpose</h4>To study the putative association of Membrane frizzled related protein (MFRP) and Visual system homeobox protein (VSX2) gene variants with axial length (AL) in myopia.<h4>Method</h4>A total of 189 samples with (N = 98) and without (N = 91) myopia were genotyped for the MRFP and VSX2 variations in ABI Prism 3100 AVANT genetic analyzer. Genotype/haplotype analysis was performed using PLINK, Haploview and THESIAS softwares.<h4>Results</h4>Fifteen variations were observed in the MFRP ...[more]

PMID: 25606400

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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.

Dataset Information

Genetic analysis of axial length genes in high grade myopia from Indian population.

Publications

Genetic analysis of axial length genes in high grade myopia from Indian population.

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