中老年人群眼轴及相关眼球生物学指标与基因多态性间的关联分析

发布时间：2018-04-19 17:32

本文选题：遗传学分析 + 缝隙连接蛋白d　；参考：《汕头大学》2011年硕士论文

【摘要】：目的:近视是常见眼病之一,然而近视的病因和发病机制复杂,尚未完全明了,遗传因素及环境的共同作用可能是近视的病因或易感因素之一。近视的器质性改变主要是眼轴的延长。最新研究进展认为缝隙连接蛋白d 2基因(Gap junction protein delta 2 gene, GJD2),胰岛素样生长因子-1基因(Insulin-like growth factor-1 gene, IGF-1)和肝细胞生长因子基因(Hepatocyte growth factor gene, HGF)与屈光不正人群密切相关。本研究的目的是拟评价中国汕头南澳中老年人群的眼轴及其相关眼球生物学指标与GJD2、IGF-1和HGF的单核苷酸多态性(single nucleotide polymorphism, SNP)的相关性。方法:研究对象为=45岁南澳人。用A型超声测量眼轴及前房深度、晶状体厚度和玻璃体腔深度。利用Taqman基因型鉴定技术对GJD2旁的rs634990、IGF-1的rs6214和HGF的rs3735520三个SNPs进行基因型鉴定。应用Haploview 4.2统计软件对基因型进行哈迪-温伯格平衡检验。应用SPSS 17.0统计软件对基因型与眼球生物学指标按不同遗传模型进行多元线性回归模型分析。结果:总共有459例样本纳入研究。GJD2旁的rs634990、IGF-1的rs6214和HGF的rs3735520这三个SNPs与眼轴、前房深度和玻璃体腔深度均无统计学显著意义的相关性。IGF-1的rs6214基因型分布加性模型与晶状体厚度有统计学显著意义的相关性。结论:本研究结果显示GJD2、IGF-1和HGF的单核苷酸多态性与眼轴无相关性。IGF-1可能是影响晶状体厚度的遗传因素之一。
[Abstract]:Objective: myopia is one of the common eye diseases. However, the etiology and pathogenesis of myopia are complicated and not fully understood. The joint action of genetic factors and environment may be one of the causes or susceptible factors of myopia.The organic change of myopia is the extension of eye axis.Recent advances suggest that gap junction protein D2 gene gap junction protein delta 2 gene, GJD2 gene, insulin-like growth factor-1 gene insulin-like growth factor-1 gene (IGF-1) and hepatocyte growth factor gene (HGFs) are closely associated with ametropia.The purpose of this study was to evaluate the correlation between the eye axis and its related eyeball biological indexes and single nucleotide polymorphisms (SNPs) of GJD2IGF-1 and HGF in the middle-aged and elderly population of Nanao, Shantou, China.Methods: the subjects were 45 years old in South Australia.Axial and anterior chamber depth, lens thickness and vitreous cavity depth were measured by A-mode ultrasound.The rs6214 of rs634990 and rs3735520 of HGF were genotyped by Taqman genotyping technique.The Hardy-Weinberg equilibrium test was performed with Haploview 4. 2 statistical software.The multivariate linear regression model was used to analyze genotypes and eyeball biological indexes according to different genetic models with SPSS 17.0 software.Results: a total of 459 samples were included in the study. GJD2 was adjacent to rs634990 for IGF-1 rs6214 and HGF for rs3735520 for these three SNPs and eye axes.There was no significant correlation between anterior chamber depth and vitreous cavity depth. The rs6214 genotypic distribution of IGF-1 was significantly correlated with lens thickness.Conclusion: the results of this study indicate that the single nucleotide polymorphisms of GJD2IGF-1 and HGF have no correlation with ocular axis. IGF-1 may be one of the genetic factors affecting lens thickness.
【学位授予单位】：汕头大学
【学位级别】：硕士
【学位授予年份】：2011
【分类号】：R778.11

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