Ubiquitin Carboxyl-Terminal Esterase L1 (UCHL1) S18Y Polymorphism In Patients With Cataracts

作者：Rudolph Thiemo^*; Sjolander Annica; Palmer Mona Seibt; Minthon Lennart; Wallin Anders; Andreasen Niels; Tasa Gunnar; Juronen Erkki; Blennow Kaj; Zetterberg Henrik; Zetterberg Madeleine

来源：Ophthalmic Genetics, 2011, 32(2): 75-79.

DOI：10.3109/13816810.2010.544360

Methods: aEuro,Patients with cataract (n == 493) and controls (n == 142) were analyzed for the UCHL1 p.S18Y polymorphism using dynamic allele-specific hybridization.
Results: aEuro,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: aEuro,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.

• 出版日期2011-6