Abstract
PurposeThe aim of this study was to investigate variants in UCP2 genes in type 2 diabetes mellitus (DM) and diabetic retinopathy (DR) in Chinese population.Materials and MethodsWe conducted a single nucleotide polymorphism-based and haplotype-based case-control study between the variants of UCP2 and DM and between the variants of UCP2 and DR in 479 Chinese patients with type 2 DM and 479 control subjects without DM. Two SNPs (rs660339 and rs659366) were selected as genetic markers.ResultsThe risk allele C at UCP2 rs660339 was closely associated with DM in Chinese population. There was significant difference in rs660339 between DM and controls (P = 0.0016; OR [95%CI] = 1.37 (1.14–1.65)). Subjects who were homozygous of the C allele were more likely to develop DM. The frequency of C allele was higher in DM (58%) than in control (51%). But this locus didn't have a definite effect on the onset of non-proliferative diabetic retinopathy (NPDR) (P = 0.44; OR [95%CI] = 0.80 (0.56–1.14)) and proliferative diabetic retinopathy (PDR) (P = 1.00; OR [95%CI] = 0.99 (0.74–1.34)) comparing to subjects with DM without retinopathy (DWR), respectively. Moreover, the UCP2 rs659366 polymorphism showed no significant difference between DM and control (P = 0.66; OR [95%CI] = 1.10 (0.91–1.32)). However, there was a significant difference between PDR and DWR (P = 0.016; OR [95%CI] = 0.66 (0.49–0.90)), but there was no difference between NPDR and DWR (P = 1.00; OR [95%CI] = 0.96 (0.67–1.37)). Participants who carried the G allele at rs659366 were more likely to develop PDR. For the haplotype, C-A was present more frequently in DM than in control (16% vs 7%), indicating that it was risky, and T-A was present less in DM than in control (29% vs 35%). Haplotype frequencies in DR and DWR showed no significant difference (P = 0.068).ConclusionIt was indicated that UCP2 may be implicated in the pathogenesis of type 2 DM and DR in Chinese population.
Highlights
Diabetic retinopathy (DR) is a common sight-threatening microvascular complication affecting patients with diabetes mellitus (DM) and it is a major cause of new cases of blindness [1]
To investigate the association between UCP2 variants and DR, we found no significant difference between DR and DM without retinopathy (DWR) (P = 0.57; OR [95%CI] = 0.92 (0.70–1.22)) for rs660339
For rs659366, there was a significant difference between proliferative diabetic retinopathy (PDR) and DWR (P = 0.016; OR [95%CI] = 0.66 (0.49–0.90))
Summary
Diabetic retinopathy (DR) is a common sight-threatening microvascular complication affecting patients with diabetes mellitus (DM) and it is a major cause of new cases of blindness [1]. According to a recent epidemiological survey in China, the overall prevalence of diabetes was estimated to be 11.6% in Chinese adult population [3]. With such incidence, and prevalence of DM increasing worldwide, DR is expected to reach epidemic proportions. Several genetic and functional studies have implicated the important role of oxidative stress genes in the pathogenesis of retinopathy in diabetes [6,7,8]. Some antioxidant defense mechanisms exist to neutralize ROS and prevent harm. One of these is represented by human uncoupling proteins (UCPs)
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