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首页> 外文期刊>Ophthalmic genetics >Ubiquitin carboxyl-terminal esterase L1 (UCHL1) S18Y polymorphism in patients with cataracts.
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Ubiquitin carboxyl-terminal esterase L1 (UCHL1) S18Y polymorphism in patients with cataracts.

机译：白内障患者泛素羧基末端酯酶L1（UCHL1）S18Y多态性。

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摘要

BACKGROUND: Cataract is characterized by light-scattering protein aggregates. The ubiquitin-proteasome system has been proposed a role in proteolytic removal of these protein aggregates. Ubiquitin carboxyl-terminal esterase L1 (UCHL1) is a de-ubiquitinating enzyme with important functions in recycling of ubiquitin. A protective role of the p.S18Y polymorphism of the UCHL1 gene has been shown in Parkinson`s disease. The current study aimed to examine possible effects on cataract formation. METHODS: Patients with cataract (n = 493) and controls (n = 142) were analyzed for the UCHL1 p.S18Y polymorphism using dynamic allele-specific hybridization. RESULTS: Significant differences were observed in allele and genotype frequencies of the p.S18Y polymorphism between controls and cataract patients, where a positive UCHL1 allele A carrier status was associated with the cataract diagnosis (adjusted OR 1.7 [95% CI = 1.1-2.6] p = 0.02). No significant differences were seen in genotype distribution when stratifying for type of cataract. Nor did the mean age at cataract surgery differ between genotypes. CONCLUSION: The current study does not support a protective role for the UCHL1 S18Y polymorphism in cataract development, but may instead suggest a disease-promoting effect.
机译：背景：白内障的特征是光散射蛋白聚集体。已经提出了遍在蛋白-蛋白酶体系统在蛋白水解去除这些蛋白质聚集体中的作用。泛素羧基末端酯酶L1（UCHL1）是一种去泛素化酶，在回收泛素中具有重要作用。帕金森氏病已显示出UCHL1基因p.S18Y多态性的保护作用。当前的研究旨在检查对白内障形成的可能影响。方法：使用动态等位基因特异性杂交分析白内障患者（n = 493）和对照组（n = 142）的UCHL1 p.S18Y多态性。结果：在对照组和白内障患者之间，p.S18Y多态性的等位基因和基因型频率存在显着差异，其中UCHL1等位基因A携带者状态与白内障诊断相关（校正OR 1.7 [95％CI = 1.1-2.6] p = 0.02）。对白内障类型进行分层时，在基因型分布上未见明显差异。白内障手术的平均年龄在基因型之间也没有差异。结论：本研究不支持UCHL1 S18Y多态性在白内障发展中的保护作用，但可能提示有促进疾病的作用。

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