The gene polymorphisms of UCP1 but not PPAR γ and TCF7L2 are associated with diabetic retinopathy in Chinese type 2 diabetes mellitus cases.

Abstract

This study was designed to investigate the association between the polymorphisms in three insulin resistance-related genes, uncoupling protein-1 (UCP1), peroxisome proliferator-activated receptor γ (PPARγ) and transcription factor 7-like 2 (TCF7L2) and the susceptibility to diabetic retinopathy (DR) in a Chinese type 2 diabetes mellitus (T2DM) cohort. A total of 792 patients with T2DM were enrolled and categorized into two groups: (1) the DR group consisted of 448 patients, which was further subclassified into a proliferative DR (PDR) group with 220 patients and a non-proliferative DR (NPDR) group with 228 patients; (2) the diabetes without retinopathy (DNR) group, comprised 344 patients who had no signs of DR. Single-nucleotide polymorphisms (SNPs), rs1800592 in the UCP1 gene, rs1801282, rs3856806 and rs1249719 in the PPARγ gene and rs11196205 in the TCF7L2 gene were genotyped in this study. For SNP rs1800592 of the UCP1 gene, the frequency of allele G and genotype GG was significantly higher in the PDR group than in the DNR group (allele OR: 1.32, 95% CI: 1.03-1.68, p = 0.03; genotype OR: 1.72, 95%CI: 1.06-2.79, p = 0.03). No evident association was found between the allele frequencies and genotype distributions of any individual SNP in the PPARγ or TCF7L2 genes and DR, PDR or NPDR. Haplotype analyses of the PPARγ gene did not provide any evidence for an association with DR, PDR or NPDR in this Chinese T2DM cohort. This study suggests that the SNP rs1800592 in the UCP1 gene is associated with increased risk of PDR in the Chinese T2DM population.