论文部分内容阅读
目的：:分析n RASGRF1基因顺式调控元件中单核苷酸多态性与甘肃地区近视人群的相关性。n 方法：:系列病例对照研究。选取2018年1月至2019年1月就诊于甘肃省人民医院眼视光学中心的高度近视患者166例（332眼）和中低度近视患者92例（184眼）分别作为高度近视组和中低度近视组，并将77例（154眼）无近视的志愿者作为正常对照组。首先利用“DNA元件百科全书”计划（ENCODE）和基因型组织表达数据库（GTEx）确定眼组织细胞相关功能性调控元件中的5个单核苷酸多态性（SNP），并利用多重连接酶检测反应技术进行候选SNP的基因分型。在不同遗传模式下，采用卡方检验、非条件Logistic回归分析近视患者和正常对照人群的基因型频率分布差异。结果：:rs8033417 T/C在显性模式下含等位基因C的个体近视的发病风险明显降低（n P=0.035）；rs8033417与甘肃地区中低度近视发病风险无相关性，但在显性模式和加性模式下能明显降低高度近视患者的患病风险（n P=0.043、0.032）。进一步的生物信息学分析发现，rs8033417 T/C与n RASGRF1基因的反义长非编码RNA基因n RP11-16K12.1的表达相关。n 结论：:rs8033417可能是甘肃地区近视发生相关的遗传变异位点，推测其可能通过影响反义长非编码RNA基因n RP11-16K12.1的表达，继而调控n RASGRF1基因表达从而影响近视尤其是高度近视的患病风险。n “,”Objective::To analyze the association between the SNPs in the cis-regulatory elements of the n RASGRF1 gene and myopia patients in Gansu province.n Methods::In a prospective case-control study, 166 patients with high myopia (332 eyes), 92 patients with moderate and low myopia (184 eyes) and 77 people from a normal control population (154 eyes) were enrolled in the Optometry Center, Gansu Provincial Hospital from January 2018 to January 2019. Five SNPs were identified using ENCODE and GTEx, and candidate SNPs were genotyped using a multiple ligase detection reaction technique. A Chi-square test and unconditional logistic regression were used to analyze the differences in genotype frequency distribution between the myopia patients and the normal control population under different genetic patterns.Results::Rs8033417 T/C allele C significantly reduced the risk of myopia in the dominant mode (n P=0.035). Rs8033417 had no significant correlation with the risk of moderate and low myopia in Gansu, but it significantly reduced the risk of high myopia (n P=0.043, 0.032). Further bioinformatics analysis showed that rs8033417 T/C was correlated with the expression of n RP11-16K12.1, the antisense long non-coding RNA of the n RASGRF1 gene.n Conclusion::Rs8033417 may be a genetic variation locus associated with myopia in Gansu province. It is speculated that rs8033417 may affect the risk of myopia, especially high myopia, by affecting the expression of the antisense long non-coding RNA gene n RP11-16K12.1 and then regulating the expression of the n RASGRF1 gene.n