LSS和HMGCR基因的单核苷酸多态性与年龄相关性白内障的关系  

Association between single nucleotide polymorphisms of LSS and HMGCR genes and age-related cataract

作　　者：邹茜 邓国华[1] 张骏 顾珊珊[2] 戎晗 康丽华[2] 王勇[2] 管怀进[2] Xi Zou;Guo-Hua Deng;Jun Zhang;Shan-Shan Gu;Han Rong;Li-Hua Kang;Yong Wang;Huai-Jin Guan(Departmentof Ophthalmology,the Third People s Hospital of Changzhou,Changzhou 213000,Jiangsu Province,China;Eye Institute,Affiliated Hospital of Nantong University,Nantong 226001,Jiangsu Province,China)

机构地区：[1]中国江苏省常州市第三人民医院眼科,213000 [2]南通大学附属医院眼科南通大学眼科研究所,中国江苏省南通市226001

出　　处：《国际眼科杂志》2021年第5期776-780,共5页International Eye Science

基　　金：国家自然科学基金项目(No.8187040994);常州市科技项目(No.CJ20190062);常州市卫生健康青苗人才培养工程(No.CZQM2020091)。

摘　　要：目的:探讨汉族人群羊毛甾醇合成酶(LSS)和3-羟基-3-甲基戊二酰辅酶A还原酶(HMGCR)基因的单核苷酸多态性(SNPs)与年龄相关性白内障(ARC)的风险是否相关。方法:采用病例对照研究。研究对象来自流调人群以及临床病例。用TaqMan RT-PCR法检测基因的SNPs;用qRT-PCR检测晶状体上皮细胞(LECs)的LSS mRNA水平;用卡方检验比较ARC组与对照组SNPs的差异,并计算比值比。结果:发现LSS-rs2968在ARC组与对照组人群存在差异(P=0.018),但是Bonferroni校正后该差异消失(P=0.072)。进行分层分析后发现LSS-rs2968 A等位基因与江苏人群的核型ARC危险相关(P=0.003),Bonferroni校正后差异依然存在(P=0.012)。我们进一步发现了各型ARC组LECs中LSS的mRNA表达均低于对照组(P<0.05)。结论:LSS-rs2968 A等位基因可能参与了江苏人群在核型ARC的发生发展,其中A等位基因为易感基因。AIM:To investigate the association between single nucleotide polymorphisms(SNPs)of Lanosterol synthase(LSS)and 3-Hydroxy-3-methylglutaryl coenzyme A reductase(HMGCR)genes and age-related cataract(ARC)risks.METHODS:This was a case-control study.The SNPs of the genes were assayed with TaqMan RT-PCR genotyping.The qRT-PCR was used to detect the LSS mRNA levels of lens epithelial cells(LECs)in individuals.The Chi-square test was used to compare differences of each SNPs between ARCs and controls and to calculate the odds ratio.RESULTS:We found that LSS-rs2968 of ARCs was different from controls(P=0.018),but the significance was lost after Bonferroni correction(P=0.072).We then further performed stratification analysis and found that LSS-rs2968 A allele was associated with nuclear type of ARC risk in Chinese population(P=0.003),and the significances still existed after Bonferroni correction(P=0.012).Consequently,we found that the LSS mRNA levels was lower in LECs of all subtypes of ARC group than that of control group(P<0.05).CONCLUSION:LSS-rs2968 A allele might plays a role in the formation and development of nuclear type of ARC risk in Jiangsu population.

关 键 词：年龄相关性白内障 羊毛甾醇 羊毛甾醇合成酶 3-羟基-3-甲基戊二酰辅酶A还原酶 单核苷酸多态性 

分 类 号：R73[医药卫生—肿瘤]