Association of apurinic/pyrimidinic endonuclease 1 gene single nucleotide polymorphism with senile and presenile cataract in a pilot study of an Egyptian population

Purpose The aim of this study was to investigate the association between genetic single nucleotide polymorphism in the promotor spot of Apurinic/Pyrimidinic Endonuclease 1 (APE1) and both senile and presenile cataract in an Egyptian population. Patients and methods This is a prospective cohort study with a random selection of patients from the Military Kobri Elkobba Eye Specialized Hospital Outpatient Clinic, Cairo, Egypt. The study included 50 patients with senile and presenile cataract (case group) and 50 age and sex matched controls (control group). Any patients with known secondary causes of cataract and pregnant females were excluded from the study. The blood samples were collected and PCR with confronting two-pair primers was done on both cases and controls to detect single nucleotide polymorphism in the promoter region of APE1-141 T/G. The PCR products were then analyzed using agarose gel electrophoresis. Results The APE1-141 G/G genotype was statistically significantly more common in the control group than in the case group ( P =0.044). In cataract patients, the APE1-141 T/T genotype was higher than in controls, but the difference was not statistically significant ( P >0.05). The G/G (42% in controls vs 38% in cases) and G/T genotypes (52% in controls vs. 40% in cases) were statistically significantly more prevalent in controls than in cases ( P =0.021), suggesting a potential protective effect of the G allele. Conclusion The APE1-141 G/G genotype and G allele appear to be protective against cataract, whereas the T allele appears to be detrimental in the development of cataract.