Lin Xiaohui, Wang Jihong, Yun Lixia, Jiang Shuhong, Li Langen, Chen Xiaohai, Li Zhen, Lu Qiang, Zhang Yihui, Ma Xiaocheng
Department of Ophthalmology, The Inner Mongolia Autonomous Region People's Hospital, Hohhot, China.
Department of Hand and Microsurgery II, the Second Affiliated Hospital of Inner Mongolia Medical University, Hohhot, China.
J Gene Med. 2016 Oct;18(10):282-287. doi: 10.1002/jgm.2926.
Diabetic retinopathy (DR) is one of the most common microvascular complications of diabetes. The present study aimed to identify a possible connection between gene polymorphisms and the risk of developing DR.
A total of 319 patients with type 2 diabetes mellitus (T2DM) were selected. All patients underwent a complete eye examination. Based on this, the patients with T2DM were divided into two subgroups: 175 patients with retinopathy (DR) and 144 patients without retinopathy (NDR). We calculated the genotype frequencies of case and control subjects using the chi-squares test. The odds ratio (OR) and 95% confidence intervals (CIs) were calculated by unconditional logistic regression adjusted for age and sex.
The finding by analysis is that the mean of duration of diabetes, total cholesterol (TC), triglycerides (TG), low-density lipoprotein (LDL), glomerular filtration rate and C-peptide were significantly different between DR and NDR. We found significant differences in cystatin-C concentrations with LEKR1-CCNL1 rs13064954 and NOS3 rs3918227 of different genotypes. Significant differences in serum TG levels were seen among the three genotypes of MTHFR rs1537516. Subjects carried the T allele of IGSF21-KLHDC7A rs3007729 had higher serum LDL concentrations (p = 0.015). In the allele model, LEKR1-CCNL1 rs13064954 decreased the risk of DR (OR =0.57, 95% CI = 0.34-0.96, p = 0.032). Under the dominant model, the IGSF21-KLHDC7A rs3007729 CT-TT genotype increased the risk of DR (OR =1.84, 95% CI = 1.14-2.99, p = 0.013).
Our results suggest that LEKR1-CCNL1 and IGSF21-KLHDC7A influence the development of DR.
糖尿病视网膜病变（DR）是糖尿病最常见的微血管并发症之一。本研究旨在确定基因多态性与发生DR风险之间的可能联系。
共选取319例2型糖尿病（T2DM）患者。所有患者均接受了全面的眼部检查。据此，将T2DM患者分为两个亚组：175例患有视网膜病变（DR）的患者和144例无视网膜病变（NDR）的患者。我们使用卡方检验计算病例组和对照组的基因型频率。通过对年龄和性别进行校正的无条件逻辑回归计算比值比（OR）和95%置信区间（CI）。
分析发现，DR组和NDR组之间的糖尿病病程、总胆固醇（TC）、甘油三酯（TG）、低密度脂蛋白（LDL）、肾小球滤过率和C肽的平均值存在显著差异。我们发现不同基因型的LEKR1 - CCNL1 rs13064954和NOS3 rs3918227的胱抑素C浓度存在显著差异。MTHFR rs1537516的三种基因型之间血清TG水平存在显著差异。携带IGSF21 - KLHDC7A rs3007729的T等位基因的受试者血清LDL浓度较高（p = 0.015）。在等位基因模型中，LEKR1 - CCNL1 rs13064954降低了DR的风险（OR = 0.57，95% CI = 0.34 - 0.96，p = 0.032）。在显性模型下，IGSF21 - KLHDC7A rs3007729的CT - TT基因型增加了DR的风险（OR = 1.84，95% CI = 1.14 - 2.99，p = 0.013）。
我们的结果表明，LEKR1 - CCNL1和IGSF21 - KLHDC7A影响DR的发生发展。
