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.
