Singapore Eye Research Institute, Singapore National Eye Centre, Singapore, Singapore.
Vision Performance Centre, Military Medicine Institute, Singapore Armed Forces, Singapore, Singapore.
Ophthalmic Genet. 2020 Feb;41(1):41-48. doi: 10.1080/13816810.2020.1737951. Epub 2020 Mar 13.
: To investigate the associations of Single Nucleotide Polymorphisms (SNPs) in the VIPR2 and ZMAT4 genes with high myopia in a Han Chinese population.: In this case-control genetic association study comprising 193 high myopia participants and 135 normal emmetropic controls from a Han Chinese population, 15 SNPs from the VIPR2 and ZMAT4 genes were selected for genotyping based on previous studies. Allelic frequencies of the SNPs and haplotypes were compared for association with high myopia and axial length (AL).: RS885863 (G-reference/A-effect) and RS7829127 (A-reference/G-effect) were significantly associated with high myopia (OR = 1.832, = .045; OR = 0.539, = .023 respectively). The associations of RS885863 with high myopia were observed under the dominant (GA+AA: OR = 1.972, < .05) and co-dominant models (Heterozygous GA: OR = 1.874; Homozygous AA: OR = 5.310; < .05) against GG (reference). The mean AL of GG was 25.94 mm, compared with that in GA and AA of 26.64 mm and 27.48 mm respectively. The associations of RS7829127 with high myopia were observed under the dominant (AG+GG: OR = 0.512, < .05) and co-dominant models (Heterozygous AG: OR = 0.524; Homozygous GG: OR = 0.307; < .05) against AA (reference). The mean AL of AA was 26.35 mm, compared with that in AG and GG of 25.62 mm and 25.17 mm respectively. The importance of RS885863 and RS7829127 were also highlighted by their being the constituent SNPs in the haplotypes (ACGA, = .002; and GA, = .008 respectively) that were significantly associated with high myopia.: Our findings agree that RS885863 from VIPR2 and RS7829127 from ZMAT4 are significantly associated with high myopia in a Han Chinese population.
: 探讨 VIPR2 和 ZMAT4 基因中的单核苷酸多态性（SNPs）与汉族高度近视的关联。: 在这项包括 193 名高度近视患者和 135 名正常正视对照的病例对照遗传关联研究中，根据先前的研究，选择了 VIPR2 和 ZMAT4 基因中的 15 个 SNPs 进行基因分型。比较了 SNPs 和单倍型的等位基因频率与高度近视和眼轴（AL）的关联。: RS885863（G-参考/A-效应）和 RS7829127（A-参考/G-效应）与高度近视显著相关（OR=1.832， =0.045；OR=0.539， =0.023）。在显性（GA+AA：OR=1.972， <0.05）和共显性模型（杂合 GA：OR=1.874；纯合 AA：OR=5.310； <0.05）下，观察到 RS885863 与高度近视的关联，而 GG（参考）。GG 的平均 AL 为 25.94mm，而 GA 和 AA 的平均 AL 分别为 26.64mm 和 27.48mm。在显性（AG+GG：OR=0.512， <0.05）和共显性模型（杂合 AG：OR=0.524；纯合 GG：OR=0.307； <0.05）下，观察到 RS7829127 与高度近视的关联，而 AA（参考）。AA 的平均 AL 为 26.35mm，而 AG 和 GG 的平均 AL 分别为 25.62mm 和 25.17mm。RS885863 和 RS7829127 作为单倍型（ACGA， =0.002；和 GA， =0.008）的组成 SNP 也凸显了其重要性，这些单倍型与高度近视显著相关。: 我们的研究结果表明，VIPR2 中的 RS885863 和 ZMAT4 中的 RS7829127 与汉族人群的高度近视显著相关。
