A functional polymorphism at the FGF10 gene is associated with extreme myopia

Edward His, Ku Chung Chen, Wan Shu Chang, Ming Lung Yu, Chung Ling Liang, Suh Hang Hank Juo

Research output: Contribution to journalArticle

17 Citations (Scopus)

Abstract

PURPOSE. Fibroblast growth factor-10 (FGF10) can modulate extracellular matrix associated genes and, therefore, it could be a myopia susceptibility gene. This study used an animal model, single nucleotide polymorphisms (SNPs) association, and genetic functional assay to evaluate FGF10 gene for myopia. METHODS. The expression levels of FGF10 gene were compared among the form deprivation myopic (FDM) eyes, the fellow eyes of the FDM group, and the healthy eyes of experimental mice. In the present study 1020 cases (≤-6.0 diopters [D]) and 960 controls (≥-1.5 D) were enrolled from a Chinese population. Eight tagging SNPs were genotyped to test for an association between genotypes and myopia. The luciferase reporter assay was conducted for the particular SNP to assess the allelic effect on gene expression. RESULTS. The sclera of FDM eyes had a 2.57-fold higher level of FGF10 mRNA (P = 0.018) than the fellow eyes. Although no SNP was associated with high myopia, SNP rs339501 was significantly associated with extreme myopia (≤-10 D, P = 0.008) and the odds ratio (OR) was 1.58 for G allele carriers. The luciferase assay showed that the risk G allele significantly caused a higher expression level than the A allele (P = 0.011). CONCLUSIONS. The evidence suggested FGF10 to be a risk factor for myopia. The sclera of myopic eyes had higher FGF10 levels. The risk G allele of SNP rs339501 was associated with extreme myopia in human and caused a higher gene expression in the luciferase assay. It is concluded that the FGF10 could have been involved in the development of myopia.

Original languageEnglish
Pages (from-to)3265-3271
Number of pages7
JournalInvestigative Ophthalmology and Visual Science
Volume54
Issue number5
DOIs
Publication statusPublished - 2013

Fingerprint

Fibroblast Growth Factor 10
Myopia
Single Nucleotide Polymorphism
Genes
Luciferases
Alleles
Sclera
Gene Expression
Extracellular Matrix
Animal Models
Odds Ratio
Genotype
Messenger RNA

Keywords

  • FDM
  • FGF10
  • Myopia

ASJC Scopus subject areas

  • Ophthalmology
  • Sensory Systems
  • Cellular and Molecular Neuroscience

Cite this

A functional polymorphism at the FGF10 gene is associated with extreme myopia. / His, Edward; Chen, Ku Chung; Chang, Wan Shu; Yu, Ming Lung; Liang, Chung Ling; Juo, Suh Hang Hank.

In: Investigative Ophthalmology and Visual Science, Vol. 54, No. 5, 2013, p. 3265-3271.

Research output: Contribution to journalArticle

His, Edward ; Chen, Ku Chung ; Chang, Wan Shu ; Yu, Ming Lung ; Liang, Chung Ling ; Juo, Suh Hang Hank. / A functional polymorphism at the FGF10 gene is associated with extreme myopia. In: Investigative Ophthalmology and Visual Science. 2013 ; Vol. 54, No. 5. pp. 3265-3271.
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abstract = "PURPOSE. Fibroblast growth factor-10 (FGF10) can modulate extracellular matrix associated genes and, therefore, it could be a myopia susceptibility gene. This study used an animal model, single nucleotide polymorphisms (SNPs) association, and genetic functional assay to evaluate FGF10 gene for myopia. METHODS. The expression levels of FGF10 gene were compared among the form deprivation myopic (FDM) eyes, the fellow eyes of the FDM group, and the healthy eyes of experimental mice. In the present study 1020 cases (≤-6.0 diopters [D]) and 960 controls (≥-1.5 D) were enrolled from a Chinese population. Eight tagging SNPs were genotyped to test for an association between genotypes and myopia. The luciferase reporter assay was conducted for the particular SNP to assess the allelic effect on gene expression. RESULTS. The sclera of FDM eyes had a 2.57-fold higher level of FGF10 mRNA (P = 0.018) than the fellow eyes. Although no SNP was associated with high myopia, SNP rs339501 was significantly associated with extreme myopia (≤-10 D, P = 0.008) and the odds ratio (OR) was 1.58 for G allele carriers. The luciferase assay showed that the risk G allele significantly caused a higher expression level than the A allele (P = 0.011). CONCLUSIONS. The evidence suggested FGF10 to be a risk factor for myopia. The sclera of myopic eyes had higher FGF10 levels. The risk G allele of SNP rs339501 was associated with extreme myopia in human and caused a higher gene expression in the luciferase assay. It is concluded that the FGF10 could have been involved in the development of myopia.",
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T1 - A functional polymorphism at the FGF10 gene is associated with extreme myopia

AU - His, Edward

AU - Chen, Ku Chung

AU - Chang, Wan Shu

AU - Yu, Ming Lung

AU - Liang, Chung Ling

AU - Juo, Suh Hang Hank

PY - 2013

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N2 - PURPOSE. Fibroblast growth factor-10 (FGF10) can modulate extracellular matrix associated genes and, therefore, it could be a myopia susceptibility gene. This study used an animal model, single nucleotide polymorphisms (SNPs) association, and genetic functional assay to evaluate FGF10 gene for myopia. METHODS. The expression levels of FGF10 gene were compared among the form deprivation myopic (FDM) eyes, the fellow eyes of the FDM group, and the healthy eyes of experimental mice. In the present study 1020 cases (≤-6.0 diopters [D]) and 960 controls (≥-1.5 D) were enrolled from a Chinese population. Eight tagging SNPs were genotyped to test for an association between genotypes and myopia. The luciferase reporter assay was conducted for the particular SNP to assess the allelic effect on gene expression. RESULTS. The sclera of FDM eyes had a 2.57-fold higher level of FGF10 mRNA (P = 0.018) than the fellow eyes. Although no SNP was associated with high myopia, SNP rs339501 was significantly associated with extreme myopia (≤-10 D, P = 0.008) and the odds ratio (OR) was 1.58 for G allele carriers. The luciferase assay showed that the risk G allele significantly caused a higher expression level than the A allele (P = 0.011). CONCLUSIONS. The evidence suggested FGF10 to be a risk factor for myopia. The sclera of myopic eyes had higher FGF10 levels. The risk G allele of SNP rs339501 was associated with extreme myopia in human and caused a higher gene expression in the luciferase assay. It is concluded that the FGF10 could have been involved in the development of myopia.

AB - PURPOSE. Fibroblast growth factor-10 (FGF10) can modulate extracellular matrix associated genes and, therefore, it could be a myopia susceptibility gene. This study used an animal model, single nucleotide polymorphisms (SNPs) association, and genetic functional assay to evaluate FGF10 gene for myopia. METHODS. The expression levels of FGF10 gene were compared among the form deprivation myopic (FDM) eyes, the fellow eyes of the FDM group, and the healthy eyes of experimental mice. In the present study 1020 cases (≤-6.0 diopters [D]) and 960 controls (≥-1.5 D) were enrolled from a Chinese population. Eight tagging SNPs were genotyped to test for an association between genotypes and myopia. The luciferase reporter assay was conducted for the particular SNP to assess the allelic effect on gene expression. RESULTS. The sclera of FDM eyes had a 2.57-fold higher level of FGF10 mRNA (P = 0.018) than the fellow eyes. Although no SNP was associated with high myopia, SNP rs339501 was significantly associated with extreme myopia (≤-10 D, P = 0.008) and the odds ratio (OR) was 1.58 for G allele carriers. The luciferase assay showed that the risk G allele significantly caused a higher expression level than the A allele (P = 0.011). CONCLUSIONS. The evidence suggested FGF10 to be a risk factor for myopia. The sclera of myopic eyes had higher FGF10 levels. The risk G allele of SNP rs339501 was associated with extreme myopia in human and caused a higher gene expression in the luciferase assay. It is concluded that the FGF10 could have been involved in the development of myopia.

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