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
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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)


Association between single nucleotide polymorphisms of LSS and HMGCR genes and age-related cataract
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National Natural Science Foundation of China(No.8187040994); Science and Technology Planning Project Foundation of Changzhou(No.CJ20190062); Young Talent Development Plan of Changzhou Health Commission(No.CZQM2020091)

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    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。

    Abstract:

    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.

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邹茜,邓国华,张骏,等. 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.国际眼科杂志, 2021,21(5):776-780.

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  • 收稿日期:2020-06-17
  • 最后修改日期:2021-04-06
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  • 在线发布日期: 2021-04-21
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