IGF信号通路和环境因素在新疆维汉青少年近视中的作用和机制研究

The incidence of myopia in China is very high, but the myopia rate of Uygur adolescent in Xinjiang is far lower than that of the Han nationality, and there is no related report on the difference. Based on this difference, the case-control genetic epidemiological method in a family based on investigation and research of environmental risk factors, the IGF signaling pathway as an important target, the key factor for measuring IGF expression in signal transduction, expression regulation and gene of genetic polymorphism on the study of environmental factors, different the national family genetic model; IGF pathway: IGF1R, correlation of changes in key signal factor PI3K-Akt pathway and the relationship with myopia rate difference (change of visual environment measurement, refractive elements detection, IGF pathway and IGF-2DNA methylation of the IGF pathway) expression, protein levels, and serum levels of polymorphism and IGF-2DNA methylation in different the level of the best possible cut-off point evaluation and discovery (cut-off), a ROC curve based on model. Through logistic regression analysis, effectiveness evaluation, pedigree analysis, gene gene and gene environment interaction, and provide the basis for the study of Han and Uygur myopia is not balanced in the molecular biology mechanism and prevention and control.

我国近视眼发病率很高，但在新疆维吾尔族青少年的近视率远远低于汉族，且这种差异性原因未见相关报道。本研究针对这种显著的差异，拟选用病例对照研究进行环境危险因素调查、以家系为基础的遗传流行病学方法，把IGF信号通路作为重要靶点，测量IGF信号传导中的关键因子表达，表观遗传及基因多态性的调控关系，研究环境因素、不同民族家系遗传模式、IGF通路：IGF1R，关键信号因子PI3K-Akt通路的变化和相互关系与近视率差异的关联性（视觉环境测量、屈光要素检测、IGF通路、IGF-2DNA甲基化的变化），评价与发现IGF通路表达、蛋白水平、多态性、血清含量及IGF-2DNA甲基化不同水平的最佳可能截点（cut-off），建立以模型为基础的ROC曲线。通过多分类logistic回归分析、有效性评价、家系遗传分析，基因-基因、基因-环境交互，为探讨维汉近视发病不均衡的分子生物学机制和防控提供依据。

近视是目前世界上最常见的眼部疾病，其发病受到遗传与环境因素的共同影响。随着移动电子设备的普及以及学生学习压力的增大，近年我国近视患病率呈上升趋势，且近视发病人群呈明显低龄化趋势，儿童青少年群体成为了近视最主要的易感人群。因此，预防近视发生和控制近视发展成为教育、卫生部门共同面临的公共卫生问题，研究近视发病的影响因素，有利制订和实施防控近视的具体方案，从而科学的降低中小学生近视的发病风险。本研究欲了解乌鲁木齐市中小学生近视的流行现状，通过与本课题组在2012年的研究进行对比，观察近视的流行趋势，并分析近视的遗传及环境影响因素。研究结果提示，目前乌鲁木齐市中小学生近视率较高，且有低龄化趋势，教育部门应从纠正学生不良读写姿势及习惯，增加学生户外活动及睡眠时间，合理改善学生饮食结构入手，积极开展近视的预防工作。