Li Yufei, Zhang Yong, Zhang Ping, Gao Lei, Ma Qingyue, Li Jin, Wang Shengxia, Liu Bing, Wang Xinye, Meng Chao
College of Life Sciences, Shandong First Medical University & Shandong Academy of Medical Sciences, Tai'an, 271016, China.
Continuous Education College, Shandong First Medical University & Shandong Academy of Medical Sciences, Tai'an, 271016, China.
Open Life Sci. 2022 May 17;17(1):512-516. doi: 10.1515/biol-2022-0055. eCollection 2022.
High myopia is a common ocular genetic disease in the world. The study sought to investigate the effect of the Insulin-like growth factor-1 (IGF-1) and Matrix metalloproteinase-9 (MMP-9) genes polymorphisms on high myopia in a Han population of China. This study recruited 216 unrelated Han Chinese subjects, including 103 cases with high myopia and 113 controls. Four tagging single nucleotide polymorphisms (SNPs) of and genes were genotyped using the Sequenom MassARRAY method. The chi-square test showed that the family history was significantly correlated with myopia. The SNP genotypes were all in Hardy-Weinberg equilibrium ( > 0.05). Among the four SNPs, there were statistically significant differences in the genotype and allele frequencies of between the groups ( = 0.024). The significant associations of between cases and controls also appeared after Bonferroni multiple correction ( = 0.024). Then, there were significant differences in the genotypes dominant model and codominant model of between groups ( = 0.007 and = 0.004, respectively). showed a significant difference between the cases and the controls in the recessive model ( = 0.037). Our findings indicated that of was associated with myopia in the population. The result suggested gene locus may play a role in myopia.
高度近视是一种世界范围内常见的眼部遗传性疾病。本研究旨在探讨胰岛素样生长因子-1（IGF-1）和基质金属蛋白酶-9（MMP-9）基因多态性对中国汉族人群高度近视的影响。本研究招募了216名无血缘关系的汉族受试者，包括103例高度近视患者和113名对照。采用Sequenom MassARRAY方法对IGF-1和MMP-9基因的4个标签单核苷酸多态性（SNP）进行基因分型。卡方检验显示家族史与近视显著相关。SNP基因型均处于哈迪-温伯格平衡（P>0.05）。在这4个SNP中，两组间IGF-1的基因型和等位基因频率存在统计学显著差异（P=0.024）。经Bonferroni多重校正后，IGF-1病例组与对照组之间也存在显著关联（P=0.024）。然后，两组间IGF-1的基因型显性模型和共显性模型存在显著差异（分别为P=0.007和P=0.004）。MMP-9在隐性模型中病例组与对照组之间存在显著差异（P=0.037）。我们的研究结果表明，IGF-1的rs6214与人群中的近视相关。结果提示IGF-1基因位点可能在近视中起作用。
