SIRT۱ rs۷۸۹۵۸۳۳ and SOD۱-۵۰bp ins/del Gene vVariations in Age-Related Cataract Patients: A Case-Control Study

Aim: Oxidative stress is one of the main factors has been implicated in pathophysiology of cataracts. Superoxide dismutase (SOD) can prepare the first line of defense versus detrimental reactive oxygen species (ROS) and Sirtuin (SIRT) confers protection against oxidative stress and retinal degeneration. Correlation of SOD۱-۵۰bp ins/del and SIRT۱-rs۷۸۹۵۸۳۳ polymorphisms with risk of cataracts is not studied currently. Therefore, we aimed to explore possible relationship between SOD۱ (۵۰bp ins/del) and SIRT۱ (rs۷۸۹۵۸۳۳) polymorphisms with the risk of cataracts in Iranian population. Methods: Our study design consisted of ۲۰۰ patients with age-related cataracts and ۲۰۰ healthy individuals as a control group. After DNA extraction, the identification of polymorphisms was conducted using PCR-based methods and data analysis was done by SPSS software. Results: A significant difference in SOD۱ DD genotype distribution was observed between studied groups (OR: ۳.۴۲, P:۰.۰۳۷), the D allele was more frequent in patients in comparison with controls (OR: ۱.۶۸, P:۰.۰۰۹). Also, in the dominant genetic model for the D allele (comparison between ID+DD vs. II), ID+DD genotypes increased the risk of cataracts (OR: ۱.۶۲, P: ۰۳۴). The association between SIRT۱-rs۷۸۹۵۸۳۳ polymorphism and cataract was significant in the AG genotype (OR: ۲.۳۷, P<۰.۰۰۱) and G allele (OR: ۱.۹۷, P<۰.۰۰۱). The SIRT۱-۱ polymorphism increased the risk of cataracts in the dominant tested inheritance model (OR: ۲.۳۴, P<۰.۰۰۱). In the combined analysis of two polymorphisms, there is an additive effect of the high-risk putative alleles about the risk of cataracts. Risk estimation according to the number of high-risk alleles showed that χ۲ for linear trend for ۰, ۱, ۲, ۳ and ۴ putative high-risk alleles is equal to ۲۰.۱۰ (P<۰.۰۰۱). Conclusion: The results showed that for the first time, SIRT۱ rs۷۸۹۵۸۳۳ and SOD۱-۵۰bp ins/del gene variations had additive effects on the risk of cataracts.

کلیدواژه ها:

Oxidative stress ، SOD۱ ، SIRT۱ ، Polymorphism ، Cataract