Association of S18Y isomer in UCHL1 gene polymorphism with age-related cataract pathogenesis
- VernacularTitle:UCHL1基因多态性中的S18Y异构体与年龄相关性白内障发病机制的相关性
- Author:
Shuai-Jie Li
1
,
2
,
3
Author Information
- Publication Type:Journal Article
- Keywords: cataract; UCHL1; ubiquitin; S18Y; variant
- From: International Eye Science 2019;19(10):1633-1636
- CountryChina
- Language:English
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Abstract:
AIM:To explore the possible effects of genetic variant S18Y of ubiquitin carboxyl-terminal esterase L1(UCHL1)gene on age-related cataract formation.
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.
- Full text:201910001.pdf
