Abstract
PurposeTo discern and confirm genetic biomarkers that help identify populations at high risk for age-related cataract (ARC).MethodsA literature search was performed in the PubMed, Web of Science and China National Knowledge Internet databases for genetic association studies published before June 26, 2016 regarding ARC susceptibility. All genetic polymorphisms reported were systematically reviewed, followed by extraction of candidate genes/loci with sufficient genotype data in ≥3 studies for the meta-analysis. A random/fixed-effects model was used to calculate the pooled odds ratios and 95% confidence intervals to evaluate the associations considering multiple genetic models. Sensitivity analysis was also performed.ResultsA total of 144 polymorphisms in 36 genes were reported in the 61 previous genetic association studies. Thereby, three polymorphisms of two genes (8-oxoguanine DNA glycosylase-1 [OGG1]; methylenetetrahydrofolate reductase NADPH [MTHFR]) in eight studies were included in the meta-analysis. Regarding the OGG1-rs1052133, the GG (OR = 1.925; 95%CI, 1.181–3.136; p = 0.009) and CG (OR = 1.384; 95%CI, 1.171–1.636; p<0.001) genotypes indicated higher risk of ARC. For the MTHFR gene, the CC+TT genotype of rs1801133 might be protective (OR, 0.838; 95%CI, 0.710–0.989; p = 0.036), whereas the AA+CC genotype of rs1801131 indicated increased risk for the mixed subtype (OR = 1.517; 95%CI, 1.113–2.067; p = 0.008).ConclusionsPolymorphisms of OGG1 and MTHFR genes are associated with ARC susceptibility and may help identify populations at high risk for ARC.
Highlights
Age-related cataract (ARC), known as senile cataract, remains the leading cause of blindness worldwide, accounting for approximately 80% of senile blindness cases[1]
Regarding the OGG1-rs1052133, the GG (OR = 1.925; 95% confidence intervals (95% CI), 1.181–3.136; p = 0.009) and CG (OR = 1.384; 95%CI, 1.171–1.636; p
Polymorphisms of OGG1 and MTHFR genes are associated with ARC susceptibility and may help identify populations at high risk for ARC
Summary
Age-related cataract (ARC), known as senile cataract, remains the leading cause of blindness worldwide, accounting for approximately 80% of senile blindness cases[1]. Genetic polymorphisms have been recognized as partly contributing to the genetic risk factors for cataract and increasing efforts are focused on identifying the associations between genetic polymorphisms and cataract susceptibility [5,6,7]. The polymorphisms of genes encoding antioxidant enzymes, such as glutathione S transferase (GST)[5, 8, 9], genes encoding DNA repair enzymes, such as xeroderma pigmentosum complementation group D (XPD) and X-ray cross-complementing group 1 (XRCC1)[7, 10, 11] have been confirmed as associated with ARC susceptibility. The ARC genetic association profile has not been reviewed to date.
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Free) 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
