视神经病变诱导反应蛋白基因与POAG发病的关系  

The relationship between optic neuropathy inducible response protein gene and the pathogenesis of POAG

作　　者：兰兰[1] 雷方[2] LAN Lan;LEI Fang(Department of Ophthalmology,First Affiliated Hospital of Henan University of Science and Technology,Luoyang 471003,China;Henan University of Science and Technology,Luoyang 471000,China)

机构地区：[1]河南科技大学第一附属医院眼科,河南洛阳471003 [2]河南科技大学,河南洛阳471000

出　　处：《实验与检验医学》2020年第4期649-651,665,共4页Experimental and Laboratory Medicine

基　　金：国家自然科学基金项目资助(No.81772631);国家自然科学基金项目资助(No.81872037)。

摘　　要：目的探讨视神经病变诱导反应蛋白基因(OPTN)与原发性开角型青光眼(POAG)发病的关系。方法选取2017年1月至2019年2月在我院治疗的POAG患者120例(观察组),同时选取健康志愿者100例作为对照组,采用聚合酶链反应检测OPTN基因。结果共发现有5个序列改变,分别为T34T、T49T、IVS6-10G→A、M98K和H486R序列改变,未发现有新序列改变;观察组T34T序列AA基因型比例为18.33%,IVS6-10G>A序列AA基因型比例为21.67%,明显高于对照组,差异比较有统计学意义(P<0.05),其余序列基因型比较差异无统计学意义(P>0.05);观察组T34T序列等位基因A比例为43.75%,IVS6-10G>A序列等位基因A比例为44.58%,明显高于对照组,比较差异有统计学意义(P<0.05),其余序列等位基因比例差异无统计学意义(P>0.05)。结论OPTN基因多态性与POAG发病有一定关系,具有临床研究意义。Objective To investigate the relationship between optic neuropathy inducible response protein gene(OPTN)and primary open angle glaucoma(POAG).Methods One hundred and twenty POAG patients(observation group)treated in our hospital from January 2017 to February 2019 were selected,and 100 healthy volunteers were selected as control group,the OPTN gene was detected by polymerase chain reaction.Results Five sequence changes were found,including T34T,T49T,IVS6-10 G>A,M98K and H486R,no new sequence changes were found;The proportion of AA genotype in T34T sequence and IVS6-10G>A sequence in the observation group were18.33%and 21.67%,which was significantly higher than that in the control group,the difference was statistically significant(P<0.05),and there was no significant difference in other sequence genotypes(P>0.05);The proportion of allele A in T34T sequence and IVS6-10G>A sequence in the observation group were 43.75%and 44.58%,which was significantly higher than that in the control group,the difference was statistically significant(P<0.05),there was no significant difference in the proportion of other alleles(P>0.05).Conclusion The polymorphism of OPTN gene is related to the pathogenesis of POAG,which is worthy of clinical study.

关 键 词：视神经病变诱导反应蛋白基因 基因多态性 原发性开角型青光眼 

分 类 号：R775.2[医药卫生—眼科] R770.4[医药卫生—临床医学]