Department of Ophthalmology and Visual Sciences, Chinese University of Hong Kong, New Territories, Hong Kong.
Department of Ophthalmology and Visual Sciences, Prince of Wales Hospital, New Territories, Hong Kong.
Br J Ophthalmol. 2020 Oct;104(10):1472-1476. doi: 10.1136/bjophthalmol-2019-314203. Epub 2019 Jul 12.
To investigate the associations of single-nucleotide polymorphisms (SNPs) in the , and genes with severities of myopia in Chinese populations.
Based on previous myopia genome-wide association studies, five SNPs ( rs4373767, rs13382811, rs2730260, rs7839488 and rs9318086) were selected for genotyping in a Chinese cohort of 2079 subjects: 252 extreme myopia, 277 high myopia, 393 moderate myopia, 366 mild myopia and 791 non-myopic controls. Genotyping was performed by TaqMan assays. Allelic frequencies of the SNPs were compared with myopia severities and ophthalmic biometric measurements.
The risk allele T of SNP rs4373767 was significantly associated with high myopia (OR=1.39, p=0.007) and extreme myopia (OR=1.34, p=0.013) when compared with controls, whereas rs13382811 (allele T, OR=1.33, p=0.018) and rs7839488 (allele G, OR=1.71, p=8.44E-05) were significantly associated with extreme myopia only. In contrast, there was no significant association of these SNPs with moderate or mild myopia. When compared with mild myopia, subjects carrying T allele of rs4373767 had a risk of progressing to high myopia (spherical equivalent ≤-6 dioptres) (OR=1.29, p=0.017). Similarly, the T allele of rs13382811 also imposed a significant risk to high myopia (OR=1.36, p=0.007). In quantitative traits analysis, SNPs rs4373767, rs13382811 and rs7839488 were correlated with axial length and refractive errors.
We confirmed as a susceptibility gene for high and extreme myopia, and and for extreme myopia in Chinese populations. Instead of myopia onset, these three genes were more likely to impose risks of progressing to high and extreme myopia.
研究中国人群中单核苷酸多态性（SNP）在 、 和 基因与近视严重程度的相关性。
基于之前的近视全基因组关联研究，选择了 5 个 SNP（rs4373767、rs13382811、rs2730260、rs7839488 和 rs9318086）在 2079 名中国受试者中进行基因分型：252 名高度近视、277 名超高度近视、393 名中度近视、366 名轻度近视和 791 名非近视对照组。通过 TaqMan 分析进行基因分型。比较 SNP 的等位基因频率与近视严重程度和眼科生物测量值。
与对照组相比，SNP rs4373767 的风险等位基因 T 与高度近视（OR=1.39，p=0.007）和超高度近视（OR=1.34，p=0.013）显著相关，而 rs13382811（等位基因 T，OR=1.33，p=0.018）和 rs7839488（等位基因 G，OR=1.71，p=8.44E-05）仅与超高度近视显著相关。相反，这些 SNP 与中度或轻度近视均无显著相关性。与轻度近视相比，携带 rs4373767 风险等位基因 T 的受试者发展为高度近视（等效球镜值≤-6 屈光度）的风险更高（OR=1.29，p=0.017）。同样，rs13382811 的 T 等位基因也对高度近视有显著的风险（OR=1.36，p=0.007）。在定量性状分析中，SNP rs4373767、rs13382811 和 rs7839488 与眼轴长度和屈光不正相关。
我们在中国人群中证实了 是高度近视和超高度近视的易感基因， 和 是超高度近视的易感基因。这些基因更可能导致近视向高度和超高度近视发展，而不是近视的起始。
