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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
A functional polymorphism at the FGF10 gene is associated with extreme myopia
Edward Hsi1, Ku-Chung Chen, Wan-Shu Chang
1Graduate Institute of Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan.
Investigative Ophthalmology & Visual Science
|April 20, 2013
Summary
Fibroblast growth factor-10 (FGF10) is linked to myopia development. Higher FGF10 levels were found in myopic eyes, and a specific genetic variant (rs339501 G allele) increased myopia risk and gene expression.
Area of Science:
- Genetics
- Ophthalmology
- Molecular Biology
Background:
- Fibroblast growth factor-10 (FGF10) influences genes related to the extracellular matrix.
- FGF10's role in extracellular matrix modulation suggests it may be a susceptibility gene for myopia.
Purpose of the Study:
- To investigate the association between the FGF10 gene and myopia.
- This study employed an animal model, single nucleotide polymorphism (SNP) association analysis, and a genetic functional assay.
Main Methods:
- Compared FGF10 gene expression in mouse models of myopia (form deprivation myopic eyes) versus control eyes.
- Genotyped 1020 myopia cases and 960 controls from a Chinese population for eight tagging SNPs.
- Utilized a luciferase reporter assay to assess the allelic effect of a specific SNP on gene expression.
Main Results:
- FGF10 mRNA levels were 2.57-fold higher in the sclera of form deprivation myopic eyes compared to fellow eyes (P = 0.018).
- SNP rs339501 showed a significant association with extreme myopia (≤-10 D, P = 0.008), with a 1.58 odds ratio for G allele carriers.
- Luciferase assays confirmed that the risk G allele led to significantly higher gene expression than the A allele (P = 0.011).
Conclusions:
- FGF10 is implicated as a risk factor in myopia development.
- Elevated FGF10 expression in the sclera of myopic eyes supports its role.
- The risk G allele of SNP rs339501 is associated with extreme myopia and increased gene expression, suggesting FGF10's involvement in myopia pathogenesis.
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