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.
Highlights
Cataract consists in a loss of the lens transparency and it is considered to be the leading cause of treatable blindness worldwide [1]
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; odds ratios (OR) = 1.04–15.97)
This association decreased when we performed the analysis adjusting by the studied risk factors (p = 0.056)
Summary
Cataract consists in a loss of the lens transparency and it is considered to be the leading cause of treatable blindness worldwide [1]. It is usually caused by the physiological aging process [2]; a percentage of patients may develop cataracts in ages prior to senescence. Its development is usually associated with aging, there are some conditions that may predispose to early cataract formation such as myotonic dystrophy, diabetes mellitus [3, 4], scleroderma, or metabolic diseases. Some drugs intake like corticosteroids can predispose to the development of pre-senile cataracts [1, 5,6,7]. Several theories have been proposed for cataract development, such as excess ultraviolet radiation (UV-r) [8, 9] or ionizing radiation [10, 11]
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