Association of 1704G/T and G82S polymorphisms in the receptor for advanced glycation end products gene with diabetic retinopathy in Chinese population.

BACKGROUND: The receptor for advanced glycation end products (RAGE) plays an important role in the pathogenesis of diabetic complications. The aim of this study is to investigate the association of the 1704 G/T and G82S polymorphisms in the RAGE gene with diabetic retinopathy (DR). METHODS: The 1704G/T and G82S polymorphisms were genotyped in 340 Type 2 diabetes (T2DM) without DR subjects (DR- group); 166 T2DM with DR subjects (DR+ group), and 182 normal glucose tolerant subjects (NGT group). The genotypes were detected by the methods of ligase detection reaction coupled PCR. RESULTS: There was no evident difference in the 1704G/T and G82S genotypic and allelic frequencies distribution between NGT and T2DM subjects. However, the frequences of G/A+AA genotypes (60.6%) and A allele (36.4%) of G82S were significantly higher in DR+ group than those (38.4%; 20.9%, respectively) in DR- group (p=0.01and p=0.007, respectively). Furthermore, haplotype analysis revealed that the frequency of G-A haplotype containing 1704G and 82S allele in DR+ group was significantly higher than that in DR- group (33.5% vs 19.6%, p=0.01). The multiple logistic regression analysis indicated that the G82S polymorphism [odds ratio (OR): 2.964, 95% confidence interval (CI): 1.013-5.46, p=0.029] and diabetes duration (OR: 1.013, 95% CI: 1.007-1.02, p<0.001) were independent risk factors for DR. CONCLUSIONS: G82S polymorphism in the RAGE gene is associated with DR and G-A haplotype containing 1704G and 82S allele might be a genetic marker of DR in Chinese T2DM patients.