目的：研究泛素羧基末端酯酶L1(UCHL1)的基因多态性异构体S18Y在年龄相关性白内障发病机制中的作用。

方法：采用病例对照研究的方法，使用聚合酶链式反应(PCR)分别扩增白内障组(242例)和正常人组(144例)血液中UCHL1基因，测序后分析S18Y异构体的基因频率。

结果：UCHL1-S18Y的基因多态性在等位基因(P=0.746)和基因型频率(P=0.813)上没有统计学差异； 二元Logistic回归模型分析显示年龄在两组间具有统计学意义(P<0.001)，将年龄和性别作为混杂因子校正后计算UCHL1的S18Y等位基因中(腺嘌呤)A-携带者的OR比值比和95%置信区间(95% CI)，结果显示(腺嘌呤)A-携带者在两组间无统计学差异(P=0.818)。

结论：本研究提示UCHL1-S18Y的基因多态性在年龄相关性白内障发生发展过程中没有起到显著作用或者保护作用。

METHODS:We have investigated the frequency of this variant among the Han-Chinese population in a case-control study. A total of 242 cortical cataract patients and 144 controls were genotyped using polymerase chain reaction(PCR)and genomic sequencing.

RESULTS:There is no statistical difference between cataract patients and healthy controls for the frequency of alleles(P=0.746)and genotypes(P=0.813). Since there was in our sample a significant difference between the groups in mean age(P<0.001), OR and CI for UCHL1 allele A positivity were computed by a binary Logistic regression model, no association was obtained for a positive UCHL1 allele A carrier status(P=0.818).

CONCLUSION:We did not find any difference between the cases and the controls at allelic and genotypic level. Our results do not support a role for this variant in cataracts.