Department of Ophthalmology, Central Hospital of Wuhan, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, China (mainland).
Med Sci Monit. 2019 Sep 20;25:7073-7078. doi: 10.12659/MSM.917011.
BACKGROUND Sorbitol-aldose reductase (polyol) pathway genes have been strongly linked to diabetic retinopathy. Polymorphisms in these genes may affect their functions and influence the risk of retinopathy. In this work, we investigated the influence of the rs759853 polymorphism of ALR2 gene and rs2055858 and rs3759890 polymorphisms of SDH gene on risk of diabetic retinopathy among Han Chinese. MATERIAL AND METHODS We included 3,000 subjects in our study, of which 1,500 were patients with diabetic retinopathy and 1,500 were controls without the said condition. Among the cases, 750 had the non-proliferative diabetic retinopathy (NPDR) and 750 had proliferative diabetic retinopathy (PDR). The polymorphisms were genotyped using established methods and logistic regression analysis was used to determine whether the polymorphisms were associated with risk of diabetic retinopathy. RESULTS We found that variants of ALR2 rs759853 polymorphism were significantly associated with an increased risk of diabetic retinopathy, whereas variants of SDH rs2055858 polymorphism were significantly associated with a lower risk. For the former, an odds ratio (OR) of 1.46 were noted for the heterozygous genotype (95% CI=1.25-1.70, P<0.01) and the homozygous variant genotype (OR=1.90, 95% CI=1.40-2.60, P<0.01). For SDH rs2055858 polymorphism, an OR of 0.51 (95% CI=0.43-0.61, P<0.01) and 0.34 (95% CI=0.28-0.42, P<0.01) was observed for heterozygous and homozygous variant genotype respectively. Subgroup analysis based on NPDR and PDR showed a similar finding as the combined results. CONCLUSIONS ALR2 rs759853 and SDH rs2055858 polymorphisms were respectively associated with a higher and lower risk of diabetic retinopathy.
山梨醇-醛糖还原酶（多元醇）途径基因与糖尿病性视网膜病变密切相关。这些基因的多态性可能会影响其功能，并影响视网膜病变的风险。在这项工作中，我们研究了 ALR2 基因的 rs759853 多态性和 SDH 基因的 rs2055858 和 rs3759890 多态性对汉族人糖尿病性视网膜病变风险的影响。
我们的研究纳入了 3000 名受试者，其中 1500 名患有糖尿病性视网膜病变，1500 名无该疾病。在病例中，750 名患有非增殖性糖尿病性视网膜病变（NPDR），750 名患有增殖性糖尿病性视网膜病变（PDR）。使用既定方法对多态性进行基因分型，使用逻辑回归分析确定多态性是否与糖尿病性视网膜病变的风险相关。
我们发现，ALR2 rs759853 多态性的变体与糖尿病性视网膜病变的风险增加显著相关，而 SDH rs2055858 多态性的变体与风险降低显著相关。对于前者，杂合基因型的优势比（OR）为 1.46（95%置信区间=1.25-1.70，P<0.01），纯合变体基因型的 OR 为 1.90（95%置信区间=1.40-2.60，P<0.01）。对于 SDH rs2055858 多态性，杂合和纯合变体基因型的 OR 分别为 0.51（95%置信区间=0.43-0.61，P<0.01）和 0.34（95%置信区间=0.28-0.42，P<0.01）。基于 NPDR 和 PDR 的亚组分析显示了与综合结果相似的发现。
ALR2 rs759853 和 SDH rs2055858 多态性分别与糖尿病性视网膜病变的风险增加和降低相关。
