Association Between ZIC2, RASGRF1, and SHISA6 Genes and High Myopia in Japanese Subjects
Association Between ZIC2, RASGRF1, and SHISA6 Genes and High Myopia in Japanese Subjects
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DOI：
10.1167/iovs.13-12825
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发表时间：
2013-11-01
影响因子：
4.4
通讯作者：
Yoshimura, Nagahisa
中科院分区：
文献类型：
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作者：
Oishi, Maho;Yamashiro, Kenji;Yoshimura, Nagahisa
目的。在日本高度近视受试者中，高加索人屈光不正和常见近视的风险与基因变异之间的关联进行了研究。方法在长滨研究中，对1339名无关的高度近视日本患者和3248名健康日本人进行了TOX、RDH5、ZIC2、RASGRF1和SHISA6基因的5个单核苷酸多态(SNPs)的基因分型。结果无脉络膜新生血管的高度近视组和近视性近视组的rs8000973(P=7.16×10(-7))、RASGRF1的rs4778879(P=3.40×10(-7))、SHISA6的rs2969180(P=0.033)与高度近视有显著相关性。Rs8000973 C等位基因、rs4778879 A等位基因和rs2969180 G等位基因的优势比(95%可信区间)分别为1.33(1.19~1.49)、0.78(0.71~0.86)和1.11(1.01~1.22)。Rs2969180等位基因G的作用与原报道相反，而其他2个SNPs的作用一致。使用-1.0屈光度的控件进行进一步分析(D)
PURPOSE. We investigated the association of genetic variations, which were identified recently in a large-scale genome-wide association study (GWAS) to confer risk of refractive error and common myopia in Caucasians, with high myopia in Japanese subjects.METHODS. The 5 single-nucleotide polymorphisms (SNPs) from the 5 genes TOX, RDH5, ZIC2, RASGRF1, and SHISA6, were genotyped in 1339 unrelated highly myopic Japanese patients and 3248 healthy Japanese participants in the Nagahama Study. In addition, genotypes were compared between high myopia patients without choroidal neovascularization (CNV) and patients with myopic CNV.RESULTS. Significant associations between rs8000973 near ZIC2 (P = 7.16 x 10(-7)), rs4778879 in RASGRF1 (P = 3.40 x 10(-7)), and rs2969180 in SHISA6 (P = 0.033) and high myopia were observed. Odds ratios (95% confidence intervals) were 1.33 (1.19-1.49), 0.78 (0.71-0.86), and 1.11 (1.01-1.22) for the rs8000973 C allele, rs4778879 A allele, and rs2969180 G allele, respectively. The effect of the rs2969180 allele G contrasted with that observed in the original report, whereas the effect of the other 2 SNPs agreed. Further analysis using controls with -1.0 diopter (D)