Dataset Information

Ubiquitin carboxyl-terminal esterase L1 (UCHL1) S18Y polymorphism in patients with cataracts.

ABSTRACT: 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.

SUBMITTER: Rudolph T

PROVIDER: S-EPMC3116718 | biostudies-literature | 2011 Jun

REPOSITORIES: biostudies-literature

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Ubiquitin carboxyl-terminal esterase L1 (UCHL1) S18Y polymorphism in patients with cataracts.

Rudolph Thiemo T Sjölander Annica A Palmér Mona Seibt MS Minthon Lennart L Wallin Anders A Andreasen Niels N Tasa Gunnar G Juronen Erkki E Blennow Kaj K Zetterberg Henrik H Zetterberg Madeleine M

Ophthalmic genetics 20110126 2

<h4>Background</h4> 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 ...[more]

PMID: 21268678

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Dataset Information

Ubiquitin carboxyl-terminal esterase L1 (UCHL1) S18Y polymorphism in patients with cataracts.

Publications

Ubiquitin carboxyl-terminal esterase L1 (UCHL1) S18Y polymorphism in patients with cataracts.

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