RASGRF1基因多态性与先天性白内障合并高度近视的关系

Association between RASGRF1 gene polymorphisms and congenital cataract with high myopia

目的 探讨Ras特异性鸟嘌呤核苷酸释放因子(RASGRF1)基因多态性与先天性白内障(CC)合并高度近视的关系。方法 选取2020年4月至2022年3月该院的CC患儿186例为研究对象,根据是否合并高度近视分为两组,其中合并高度近视的105例患儿为A组,未合并高度近视的81例患儿为B组;另选取同期该院的体检健康者93例为对照组。比较CC患儿与体检健康者RASGRF1基因的单核苷酸多态性(SNP)分型与基因型频率,比较A、B两组RASGRF1基因的SNP分型与基因型频率及一般资料,采用Logistic回归分析RASGRF1基因rs8033417分型对CC合并高度近视患儿的独立作用。结果 CC患儿与体检健康者RASGRF1基因的SNP分型rs2870087、rs8033417、rs939658、rs4778879、rs12902831的基因型频率比较,差异有统计学意义(P<0.05)。A组与B组RASGRF1基因的SNP分型rs8033417的基因型频率比较,差异有统计学意义(P<0.05)。A组女性、年龄>12~14岁人数多于B组,眼轴长度、屈光度、黄斑区中心凹视网膜厚度大于B组,黄斑区上方、下方、鼻侧、颞侧视网膜厚度小于B组(P<0.05)。在未校正因素时,RASGRF1基因rs8033417分型为C/T-C/C的CC患儿发生高度近视的风险是T/T基因型患儿的0.476倍;在模型2、模型3中,RASGRF1基因rs8033417分型为C/T-C/C的CC患儿发生高度近视的风险分别是T/T基因型患儿的0.441倍、0.426倍(P<0.05)。结论 RASGRF1基因与CC密切相关,且其rs8033417分型是CC患儿发生高度近视的独立影响因素。当CC患儿RASGRF1基因rs8033417分型为C/T-C/C时,高度近视发生率较低。

Objective To investigate the association between Ras-specific guanine nucleotide releasing factor(RASGRF1)gene polymorphism and congenital cataract(CC)with high myopia.Methods A total of 186 children with CC in this hospital from April 2020 to March 2022 were selected as the research objects,and were divided into two groups according to whether they were complicated with high myopia.Among them,105 children with high myopia were in group A,and 81 children without high myopia were in group B.In addition,93 healthy people in the same hospital during the same period were selected as the control group.The RASGRF1 single nudetide polymorphism(SNP)typing and genotype frequency of CC children and healthy people were compared,and the RASGRF1 SNP typing and genotype frequency,general data of group A and group B were compared.Logistic regression analysis was used to analyze the independent effect of RASGRF1 rs8033417 genotype on CC with high myopia.Results There were significant differences in rs2870087,rs8033417,rs939658,rs4778879 and rs12902831 genotype frequencies of RASGRF1 between CC children and healthy people(P<0.05).There was significant difference in RASGRF1 rs8033417 genotype frequency between group A and group B(P<0.05).Compared with group B,group A had more female,older than 12 to 14 years old,larger axial length,diopter,thicker macular fovea and smaller superior,inferior,nasal and temporal retinal thickness(P<0.05).Without adjusting for factors,RASGRF1 rs8033417 CC patients with C/T-C/C genotype were 0.476 times more likely to develop high myopia than those with T/T genotype.In model 2 and model 3,the risk of high myopia in CC children with C/T-C/C genotype of RASGRF1 rs8033417 was 0.441 and 0.426 times higher than that in children with T/T genotype,respectively(P<0.05).Conclusion RASGRF1 gene is closely related to CC,and its rs8033417 genotype is an independent risk factor for high myopia in children with CC.When rs8033417 of RASGRF1 gene is C/T-C/C,the incidence of high myopia is lower.