Abstract:

Objective To collectively evaluate the association of candidate genes polymorphisms with diabetic retinopathy (DR) in patients with type 2 diabetic mellitus. Design Meta-analysis. Participants Literatures investigating the association of genetic variants in three candidate genes of diabetic retinopathy. Methods Overall review of available literatures investigating the association of genetic variants in three candidate genes, including pigment epithelium derived factor (PEDF), tumor necrosis factor-α (TNF-α) and paraoxonase 1 (PON1) genes, with the risk of DR was conducted on 4 electronic databases(Pubmed, ISI, Enbose, and CNKI). Meta-analysis was performed by Stata 12.0 to calculate pooled odds ratios (ORs). Potential sources of heterogeneity and publication bias were explored. Main Outcome Measures Pooled OR, Pheterogeneity and publication bias. Results Thirteen studies with genotype frequency data including 2729 cases with DR and 3420 diabetic controls free of DR were included. Meta-analysis showed significant association of DR with rs12948385 variant of PEDF gene (dominant model: OR=1.371, 95%CI: 1.072~1.755, P=0.012; allelic model: OR=1.266, 95%CI: 1.028~1.560, P=0.027) and L55M variant of PON1 gene (recessive model: OR=2.998, 95%CI: 1.282~7.010, P=0.011). A statistically significant association was detected between the rs1800629 variant of TNF-α gene and proliferative diabetic retinopathy (PDR) in allelic model (OR=1.291, 95%CI: 1.019~1.636, P=0.034). No publication bias was observed. Conclusion Rs12948385 variant of PEDF gene and L55M variant of PON1 gene may be associated with DR, and rs1800629 variant of TNF-α gene may be correlated to PDR.

Key words: PEDF, PON1, TNF-α, diabetic retinopathy, type 2 diabetes, Meta-analysis