Association of S18Y isomer in UCHL1 gene polymorphism with age-related cataract pathogenesis

• Main Authors: Shuai-Jie Li, Guo-Xu Xu, Ke-Hong Feng
• Format: Article
• Language: English
• Published: Press of International Journal of Ophthalmology (IJO PRESS) 2019-10-01
• Series: Guoji Yanke Zazhi
• Subjects: cataract; UCHL1; ubiquitin; S18Y; variant
• Online Access: http://ies.ijo.cn/cn_publish/2019/10/201910001.pdf

AIM:To explore the possible effects of genetic variant S18Y of ubiquitin carboxyl-terminal esterase L1(UCHL1)gene on age-related cataract formation.<p>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.<p>RESULTS:There is no statistical difference between cataract patients and healthy controls for the frequency of alleles(<i>P</i>=0.746)and genotypes(<i>P</i>=0.813). Since there was in our sample a significant difference between the groups in mean age(<i>P</i><0.001), <i>OR</i> and <i>CI</i> 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(<i>P</i>=0.818).<p>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.