Purpose: Genetic factors have been studied to be associated with diabetic retinopathy (DR). This study aimed to investigate the association between the polymorphisms in the osteoproterin (OPG) gene and DR in a Han Chinese population.
Methods: There were 475 patients with diabetic retinopathy (DR), 478 type 2 diabetes mellitus without retinopathy (DNR) and 469 healthy controls collected in this study. OPG single-nucleotide polymorphisms (SNPs) rs2073618 and rs3134069 were genotyped by Mass ARRAY MALDI-TOF system. The genotype and allele frequencies were evaluated using the χ2 tests. Odds ratio (OR) and 95% confidence intervals (95% CI) were calculated for the risk of genotype and allele.
Results: There was a statistically significant difference for OPG SNP rs3134069 between DR cases and healthy controls in the allelic model (P = .036, OR = 1.33, 95% CI = 1.02-1.73). The C allele frequency of this polymorphism was 0.154 in the DR cases, whereas it was 0.120 in healthy controls, suggesting a risk effect for DR. SNP rs3134069 had a significant association with DR in the dominant model (P = .038, OR = 1.37, 95% CI = 1.02-1.84), indicating that the CC/AC genotype was more likely to suffer from DR. For rs2073618, no significant difference was identified in the allelic model (P = .632, OR = 0.95, 95% CI = 0.78-1.16) and the four genetic models.
Conclusions: This study showed that OPG SNP rs3134069 was associated with DR in the dominant model, suggesting that the OPG gene variant may be involved in the development of DR.
Keywords: OPG; association; diabetic retinopathy; polymorphism.