汉族人群Toll样受体3基因启动子区rs128912单核苷酸多态性与白内障的关系  

Relationship between rs128912 single nucleotide polymorphism in promoter region of Toll-like receptor 3 gene and cataract in Chinese Han population

作　　者：郭晶晶[1] 马玲玲 江黎 周妍妍 陈伟芳 贺玲[1] Jing-Jing Guo;Ling-Ling Ma;Li Jiang;Yan-Yan Zhou;Wei-Fang Chen;Ling He(Department of Eye&ENT,the 83rd Group Army Hospital of PLA,Xinxiang 453000,Henan Province,China;Department of Ophthalmology,Weihui People's Hospital,Weihui 453100,Henan Province,China;Department of Ophthalmology,Central Theater Command General Hospital of PLA,Wuhan 430000,Hubei Province,China)

机构地区：[1]中国人民解放军陆军第八十三集团军医院眼耳鼻喉科,河南省新乡市453000 [2]中国河南省卫辉市人民医院眼科,453100 [3]中国人民解放军中部战区总医院眼科,湖北省武汉市430000

出　　处：《国际眼科杂志》2023年第12期2031-2034,共4页International Eye Science

摘　　要：目的:分析汉族人群Toll样受体3(TLR3)基因启动子区rs128912单核苷酸多态性(SNP)与白内障的关系。方法:选取2019-06/2021-06我院收治的白内障患者263例作为研究组,晶状体脱位患者150例作为对照组。采用免疫印迹法(Western blotting)检测两组患者晶状体前囊膜组织中TLR3蛋白表达情况,采用直接测序法分析TLR3基因启动子区rs128912位点多态性,采用实时荧光定量-聚合酶链式反应(RT-qPCR)法检测不同基因型患者外周血TLR3 mRNA表达情况。结果:研究组患者前囊膜组织中TLR3蛋白相对表达水平高于对照组(P<0.05)。研究组和对照组患者TLR3基因启动子区rs128912位点基因型(AA、AT、TT)频率均符合Hardy-Weinberg遗传平衡定律,且两组患者间TLR3基因启动子区rs128912位点基因型(AA、AT、TT)频率和等位基因(A、T)频率均有差异(P<0.05)。研究组中TT基因型患者外周血TLR3 mRNA相对表达水平均高于AA和AT基因型患者(P<0.05)。结论:白内障患者晶状体前囊膜组织中TLR3蛋白表达明显上调,且TLR3基因启动子区rs128912位点多态性与汉族人群白内障易感性有关,携带TT基因型者更易发生白内障。AIM:To analyze the relationship between rs128912 single nucleotide polymorphism(SNP)in the promoter region of Toll-like receptor 3(TLR3)gene and cataract in Chinese Han population.METHODS:A total of 263 patients with cataract admitted to our hospital from June 2019 to June 2021 were selected as study group,and 150 patients with lens dislocation were included in control group.Western blotting was used to detect the expression of TLR3 protein in the anterior capsular tissues of lens in the two groups,and direct sequencing method was applied to analyze the polymorphism of rs128912 locus in the promoter region of TLR3 gene.The expression of peripheral blood TLR3 mRNA of patients with different genotypes was detected by real-time quantitative polymerase chain reaction(RT-qPCR).RESULTS:The expression level of TLR3 protein in the anterior capsular tissues in the study group was higher than that in the control group(P<0.05).The frequencies of genotypes(AA,AT,TT)at rs128912 locus in the TLR3 gene promoter region in the study group and the control group were in accordance with Hardy-Weinberg genetic equilibrium,and there were differences in the frequencies of genotypes(AA,AT,TT)and frequencies of alleles(A,T)at rs128912 locus in the TLR3 gene promoter region between both groups(P<0.05).The relative expression level of peripheral blood TLR3 mRNA in patients with TT genotype in the study group was higher than that in patients with AA or AT genotypes(P<0.05).CONCLUSION:The expression of TLR3 protein in anterior capsular tissues of lens of patients with cataract is significantly up-regulated,and rs128912 locus polymorphism in the TLR3 gene promoter region is related to the susceptibility of cataract in Chinese Han population,and people with TT genotype are more prone to cataract.

关 键 词：TOLL样受体3 单核苷酸多态性 启动子 白内障 易感性 

分 类 号：R776.1[医药卫生—眼科]