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.

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)