Study of Association between Pre-Senile Cataracts and the Polymorphisms rs2228000 in XPC and rs1042522 in p53 in Spanish Population

Abstract

PurposeTo determine if the presence of certain polymorphisms in the DNA repair gene XPC and the apoptosis inductor gene p53 is associated with pre-senile cataract development.MethodsWe have performed a retrospective study over three groups of patients. The group with pre-senile cataract formed by 72 patients younger than 55 with cataract surgery. The group with senile cataract formed by 101 patients older than 55 with cataract surgery. The group without cataract was formed by 42 subjects older than 55 without lens opacities. We analyzed the presence of SNP rs2228000 from XPC and rs1042522 from p53; and the relationship between risk factors such as smoking, alcohol intake, hypertension or diabetes.ResultsThe comparison of the genotype distribution in XPC, within the different groups, did not show any statistically significant association in any of our analysis (p>0,05). The comparison of the genotype distribution in p53 within the different groups did not show any statistically significant association (p>0,05); except for the comparison between the pre-senile cataract group and the group with senile cataract where the genotype Pro/Pro (C/C) in the recessive inheritance model showed a higher risk for developing pre-senile cataract (p = 0,031; OR = 1.04–15.97). This association decreased when we performed the analysis adjusting by the studied risk factors (p = 0.056).ConclusionsAllelic variants in the gene XPC are not associated with an increased risk for developing pre-senile cataract. The presence of the genotype Pro/Pro in p53 might be associated with a major risk for developing pre-senile cataract.

Expression of miR‑34a in cataract rats and its related mechanism

“…There was a positive feedback between P53 and miR-34a (15)(16)(17). P53 is a transcription factor whose main function is to regulate the cell life cycle by controlling the expression of multiple genes, thus promoting apoptosis (18,19). Ji et al (20) found that P53 could regulate the cellular differentiation genes in the lens by regulating αA-and βA3/a1-crystallin genes.…”