Purpose: The purpose of this study was to investigate the association of VDR polymorphism with development of retinopathy in a Han Chinese population with type 2 diabetes mellitus.
Materials and methods: A total of 204 T2DM patients were subdivided into groups without diabetic retinopathy (NDR, n=110) and those with DR (n=94). VDR rs2228570 (FokI:C>T), rs1544410 (BsmI:G>A), and rs7975232 (Apal:A>C) polymorphism was assayed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).
Results: Diabetes duration (10.0 vs. 5.0 years, P<0.01) was longer, systolic blood pressure (143.98 ± 24.31 vs. 135.11 ± 15.23, P<0.01), and HbA1c (9.2 ± 2.06 vs. 8.35 ± 1.62, P<0.01) were higher in DR than in NDR patients. Distribution frequencies of the rs2228570, rs1544410, and rs7975232 genotypes followed the Hardy-Weinberg equilibrium. VDR rs2228570 TT genotype frequency was significantly higher in DR (n=30; 31.9%) than in NDR patients (n=14; 12.7%; P<0.01). DR patients carried more rs2228570 T alleles (n=113; 60.1%) than did NDR patients (n=89; 40.5%; P<0.01). Genotype frequencies of rs1544410 and rs7975232 in NDR and DR patients were not different. Logistic analysis confirmed that diabetes duration (odds ratio (OR) 1.108, P<0.01), SBP (OR 1.022, P<0.05), HbA1c (OR 1.267, P<0.05), and the VDR rs2228570 T allele (OR 1.467, P<0.01) were independently associated with DR risk. TAA haplotype frequency was significantly higher in DR (24.0%) than in NDR (16.1%) patients (P<0.05).
Conclusions: Diabetes duration, SBP, HbA1c, and the rs2228570 T allele were associated with increased risk of DR. VDR rs2228570 might be good candidate biomarker of DR in Han Chinese T2DM patients.
Keywords: Diabetic retinopathy; Polymorphism; Risk factors; Vitamin D receptor.
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