BACKGROUND: Diabetic retinopathy has a varied prevalence, severity, and rate of progression. The aim of this study was to determine whether the single nucleotide polymorphisms (SNPs) of the gene encoding a 135-kD centrosomal protein CEP135 rs4865047 and the gene encoding the type 2 NPY protein NPY2R rs1902491 were associated with the development of rapidly progressive proliferative diabetic retinopathy in patients with type 1 diabetes mellitus.

MATERIAL AND METHODS: Patients with rapidly progressive proliferative diabetic retinopathy (n=48) were included in the study group. The control group (n=84) consisted of diabetes mellitus patients who had no proliferative diabetic retinopathy up to 15 years of diabetes duration. The reference group (n=90) included non-diabetic individuals who matched the study group by age and gender. The SNPs in the three groups were analyzed using real-time polymerase chain reaction (PCR) amplification.

RESULTS: The analysis of the distribution of genotypes in CEP135 rs4865047 and NPY2R rs1902491 detected significant differences only in the single nucleotide polymorphism rs4865047 genotype between the case and control group in comparison to the reference group. The co-dominant model showed that CEP135 rs4865047 was significantly associated with patients with rapidly progressive proliferative diabetic retinopathy (OR 7.2, 95% CI, 2.28–22.74, p=0.001). No significant association was found for the NPY2R SNP rs1902491 genotype.

CONCLUSIONS: Our study reports a significant association of the CEP135 single nucleotide polymorphism rs4865047 genotype with rapidly progressive proliferative diabetic retinopathy and the control group. No significant association was found of the NPY2R single nucleotide polymorphism rs1902491 genotype.

Keywords: Diabetes Mellitus, Type 1, Diabetic Retinopathy, Genome-Wide Association Study