Zhong Xing, Du Yijun, Lei Yuan, Liu Nina, Guo Yanyun, Pan Tianrong
Department of Endocrinology, The Second Affiliated Hospital of Anhui Medical University, Hefei 230061, PR China.
Department of Endocrinology, The Fourth Affiliated Hospital of Anhui Medical University, Hefei 230022, PR China.
Gene. 2015 Jul 25;566(2):212-6. doi: 10.1016/j.gene.2015.04.045. Epub 2015 Apr 18.
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.
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).
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).
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.
本研究旨在探讨维生素D受体（VDR）基因多态性与中国汉族2型糖尿病患者视网膜病变发生发展的相关性。
将204例2型糖尿病患者分为无糖尿病视网膜病变组（NDR，n = 110）和糖尿病视网膜病变组（DR，n = 94）。采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法检测VDR基因rs2228570（FokI：C>T）、rs1544410（BsmI：G>A）和rs7975232（Apal：A>C）多态性。
DR患者的糖尿病病程（10.0 vs. 5.0年，P<0.01）更长，收缩压（143.98±24.31 vs. 135.11±15.23，P<0.01）和糖化血红蛋白（HbA1c）（9.2±2.06 vs. 8.35±1.62，P<0.01）更高。rs2228570、rs1544410和rs7975232基因型的分布频率符合Hardy-Weinberg平衡。DR患者中VDR rs2228570 TT基因型频率（n = 30；31.9%）显著高于NDR患者（n = 14；12.7%；P<0.01）。DR患者携带的rs222857 T等位基因（n = 113；60.1%）多于NDR患者（n = 89；40.5%；P<0.01）。NDR和DR患者中rs1544410和rs7975232的基因型频率无差异。Logistic分析证实，糖尿病病程（优势比（OR）1.108，P<0.01）、收缩压（OR 1.022，P<0.05）、HbA1c（OR 1.267，P<0.05）和VDR rs2228570 T等位基因（OR 1.467，P<0.01）与DR风险独立相关。DR患者中TAA单倍型频率（24.0%）显著高于NDR患者（16.1%）（P<0.05）。
糖尿病病程、收缩压、HbA1c和rs2228570 T等位基因与DR风险增加相关。VDR rs2228570可能是中国汉族2型糖尿病患者DR的良好候选生物标志物。
