Association study of fibroblast growth factor 10 (FGF10) polymorphisms with susceptibility to extreme myopia in a Japanese population
Association study of fibroblast growth factor 10 (FGF10) polymorphisms with susceptibility to extreme myopia in a Japanese population
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发表时间：
2013-11
期刊：
影响因子：
2.2
通讯作者：
Masao Yoshida;A. Meguro;E. Okada;N. Nomura;N. Mizuki
中科院分区：
文献类型：
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作者：
Masao Yoshida;A. Meguro;E. Okada;N. Nomura;N. Mizuki
目的成纤维细胞生长因子10（FGF 10）基因rs339501多态性与中国人群高度近视相关。在本研究中，我们调查了FGF 10多态性是否与日本人群的极度近视相关。方法共招募了433名日本极端近视患者（≤-10.00屈光度）和542名日本健康对照（+1.50至-1.50屈光度）。我们对FGF 10中包括rs339501在内的7个标记单核苷酸多态性（SNP）进行了基因分型。我们还进行了插补分析，以评估未分型的FGF 10 SNP的潜在关联，并插补了34个SNP。结果发现rs339501和rs 12517396与极度近视相关性最强（p=3.9 × 10−4，校正p [Pc]=0.0030）。rs 10462070也有显著相关性（p=6.5 × 10−4，Pc=0.0059）。这3个SNPs均处于强连锁不平衡（D' ≥0.99，r2 ≥0.96）。然而，与对照组相比，病例组rs339501的A等位基因频率增加，这与先前中国人群中病例组G等位基因频率增加不同。结论FGF 10基因rs339501、rs 12517396和rs 10462070多态性与日本人群高度近视相关，rs339501等位基因与中国人群高度近视相关。因此，这三个SNPs可能不是极端近视易感性的重要危险因素。需要进一步的研究来阐明FGF 10区域在极端近视发展中的可能作用。
Purpose The fibroblast growth factor 10 (FGF10) gene polymorphism rs339501 was previously reported to be associated with high myopia in a Chinese population. In the present study, we investigated whether FGF10 polymorphisms are associated with extreme myopia in a Japanese population as well. Methods A total of 433 Japanese patients with extreme myopia (≤ −10.00 diopters) and 542 Japanese healthy controls (+1.50 to −1.50 diopters) were recruited. We genotyped seven tagging single-nucleotide polymorphisms (SNPs), including rs339501, in FGF10. We also performed an imputation analysis to evaluate the potential association of ungenotyped FGF10 SNPs, and 34 SNPs were imputed. Results It was found that rs339501 and rs12517396 exhibited the strongest association with extreme myopia (p=3.9 × 10−4, corrected p [Pc]=0.0030). A significant association was also observed for rs10462070 (p=6.5 × 10−4, Pc=0.0059). These three SNPs were in strong linkage disequilibrium (D’ ≥0.99, r2 ≥0.96). However, the frequency of the A allele of rs339501 was increased in cases compared to controls, which differs from the increased frequency of the G allele in cases in the previous Chinese population. Conclusions Three FGF10 SNPs in complete linkage disequilibrium—rs339501, rs12517396, and rs10462070—were associated with extreme myopia in the Japanese population, and the risk allele of rs339501 differed from the previous Chinese population. Therefore, these three SNPs may not be an important risk factor for susceptibility to extreme myopia. Further studies are needed to elucidate the possible contribution of the FGF10 region in the development of extreme myopia.