Graduate Institute of Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan.
Invest Ophthalmol Vis Sci. 2013 May 7;54(5):3265-71. doi: 10.1167/iovs.13-11814.
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.
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.
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).
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.
成纤维细胞生长因子 10（FGF10）可以调节细胞外基质相关基因，因此它可能是近视易感性基因。本研究使用动物模型、单核苷酸多态性（SNP）关联和遗传功能测定来评估 FGF10 基因与近视的关系。
在本研究中，比较了形觉剥夺性近视（FDM）眼、FDM 组的对侧眼和实验小鼠的正常眼之间 FGF10 基因的表达水平。从中国人群中纳入了 1020 例（≤-6.0 屈光度[D]）近视病例和 960 例（≥-1.5 D）对照。对 8 个标记 SNP 进行基因分型，以检测基因型与近视之间的关联。通过荧光素酶报告基因检测特定 SNP，评估等位基因对基因表达的影响。
FDM 眼的巩膜 FGF10 mRNA 水平高出对侧眼 2.57 倍（P=0.018）。虽然没有 SNP 与高度近视相关，但 SNP rs339501 与极高度近视（≤-10 D，P=0.008）显著相关，G 等位基因携带者的比值比（OR）为 1.58。荧光素酶检测显示，风险 G 等位基因的表达水平明显高于 A 等位基因（P=0.011）。
证据表明 FGF10 是近视的危险因素。近视眼中的巩膜 FGF10 水平较高。SNP rs339501 的风险 G 等位基因与人类的极高度近视相关，并在荧光素酶检测中导致更高的基因表达。综上所述，FGF10 可能参与了近视的发生。
