Association between vitamin D receptor polymorphisms and diabetic retinopathy in Uygur Chinese with type 2 diabetes.

Purpose: This study was to investigate the potential association between vitamin D receptor(VDR) gene polymorphisms and the risk of diabetic retinopathy(DR) in the Uygur population in China, focusing on four specific VDR gene single nucleotide polymorphisms(SNPs) as candidate SNPs.

Methods: The study genotyped a total of 151 DR patients and 130 healthy controls from the Uygur population using the single-base terminal extension (SNaPshot) method for four VDR gene SNPs: rs1544410, rs7975232, rs2228570, and rs731236. Hardy-Weinberg equilibrium was assessed using the χ2 test. Genotype frequencies were determined by directly counting the genotypes and correlating them with population data. The χ2 test was utilized to compare allele and genotype frequencies between patients and controls.

Results: Compared to the healthy control group, the study observed a significantly higher frequency of the "TT" genotype at rs1544410 in the DR group. Additionally, within the non-proliferative diabetic retinopathy (NPDR) group, a significantly higher frequency of the "AA" genotype at rs7975232 was noted. No significant differences were found in the comparison of all haplotypes between patients and controls.

Conclusions: The study concluded that the rs1544410 polymorphism is associated with DR, and the rs7975232 polymorphism is associated with susceptibility to NPDR in the Uygur population in China.