Abstract

Objectives To investigate whether the presence of peroxisome proliferator-activated receptor gamma (PPARG) gene polymorphisms is associated with unexplained mild visual impairment (UMVI) in patients with type 2 diabetes mellitus (T2DM). Methods A total of 135 T2DM residents with UMVI and 133 with normal vision (NV; best-corrected visual acuity ≥ 20/25 in both eyes) were enrolled. UMVI was defined as best-corrected visual acuity (BCVA) < 20/25 and ≥ 20/63 in both eyes, with no visual impairment-causing diseases found. Four PPARG gene single-nucleotide polymorphisms (SNPs) (rs3856806, rs1801282, rs709158, and rs10865710) were assessed with the HAPLOVIEW 4.0 software to examine the statistical association of PPARG polymorphisms and UMVI in patients with T2DM. Results Four SNPs qualified the Hardy–Weinberg equilibrium (p > 0.05). The frequency of genotype GC at SNP rs10865710 was significantly higher in the UMVI group than in the NV group (p < 0.001; GG + GC versus CC) (OR = 8.94, 95% CI: 4.90–16.31), whereas genotype CC decreased the risk (OR = 0.07, 95% CI: 0.03–0.14). Genotype TT at SNP rs3856806 was strongly associated with UMVI (p < 0.0001, TT + TC versus CC) (OR = 4.74, 95% CI: 2.68–8.54), whereas genotype CC appeared to be protective for UMVI (OR = 0.55, 95% CI: 0.37–0.82). Conclusions Susceptibilities of PPARG variants may lead to differences in PPARG transcription, result in early function loss of retinal photoreceptor cells, and eventually cause UMVI.

Highlights

  • Diabetes is a group of metabolic disorders characterized by hyperglycemia resulting from defects in insulin secretion, insulin action, or both [1, 2]. e World Health Organization (WHO) estimated that by 2025, there would be 300 million people worldwide with diabetes mellitus [3], and Type 2 diabetes mellitus (T2DM) accounted for 90%–95% of those with diabetes [1]

  • Peroxisome proliferator-activated receptor gamma (PPARG) was chosen as a candidate gene, and we investigated whether the presence of peroxisome proliferator-activated receptor gamma (PPARG) gene polymorphisms was associated with unexplained mild visual impairment (UMVI) in a Chinese Han T2DM population to provide novel insight into the pathogenesis of UMVI

  • A PubMed search indicated that there is no worldwide study that has investigated the association of PPARG gene polymorphisms with UMVI in a T2DM population. erefore, the statistically significant relationship between UMVI and the SNPs rs10865710 and rs3856806 found in our study will be important for elucidating the gene susceptibility and possible pathogenesis of UMVI

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Summary

Introduction

Diabetes is a group of metabolic disorders characterized by hyperglycemia resulting from defects in insulin secretion, insulin action, or both [1, 2]. e World Health Organization (WHO) estimated that by 2025, there would be 300 million people worldwide with diabetes mellitus [3], and Type 2 diabetes mellitus (T2DM) accounted for 90%–95% of those with diabetes [1]. Over the last three decades, there had been a major rise in the prevalence of T2DM globally [4]. T2DM is associated with many complications, among which ocular complications are common and usually emerging earlier than other complications [5]. Owing to complications such as cataracts, diabetic retinopathy (DR), and glaucoma, the prevalence of visual impairment is much higher in the T2DM population than the nondiabetic populations. Few health administration members or ophthalmologists paid attention to mild visual impairment (BCVA < 20/25 and ≥20/63), [6] which reduced the Journal of Ophthalmology activities of daily living and life quality of patients with T2DM [7, 8]

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