The association of polymorphisms with diabetic retinopathy in Chinese population.

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 () 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. single-nucleotide polymorphisms (SNPs) rs2073618 and rs3134069 were genotyped by Mass ARRAY MALDI-TOF system. The genotype and allele frequencies were evaluated using the χ 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 SNP rs3134069 between DR cases and healthy controls in the allelic model ( = .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 ( = .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 ( = .632, OR = 0.95, 95% CI = 0.78-1.16) and the four genetic models.

CONCLUSIONS

This study showed that SNP rs3134069 was associated with DR in the dominant model, suggesting that the gene variant may be involved in the development of DR.