Zaharieva E T, Kamenov Z A, Savov A S
.
Endocr Regul. 2017 Jul 1;51(3):137-144. doi: 10.1515/enr-2017-0014.
Compared to type 1 diabetes, the role of the immune and autoimmune pathogenetic mechanisms is much less studied in the type 2 diabetes. Toll-like receptors 4 (TLR4) have a leading role in inflammation, insulin resistance, and vascular damage. This study aimed to analyze the relationship between the polymorphisms in TLR4 gene and different stages in the glucose continuum from prediabetes to the type 2 diabetes and chronic microvascular complications.
The study included 113 patients with the type 2 diabetes, 29 participants with prediabetes, and 28 controls. Polymerase chain reaction (PCR) was used for genotyping Asp299Gly and Thr399Ile polymorphism, followed by restriction analysis.
The difference in the genotype frequency for both polymorphisms in patients with the type 2 diabetes or prediabetes compared to that in controls was not significant. Patients with heterozygous genotype of Asp299Gly polymorphism had a higher prevalence of diabetic retinopathy (42.9%) than participants with homozygous genotype (9.0%) (OR [95%CI]=7.61 [1.41-41.08]; p=0.018). No association was established for diabetic polyneuropathy and nephropathy. Prevalence of chronic diabetes complications was not related to Thr399Ile polymorphism.
Our study demonstrates that Asp299Gly and Thr399Ile polymorphisms seem not to be associated with the type 2 diabetes and prediabetes but Asp299Gly may contribute to diabetic retinopathy predisposition.
与1型糖尿病相比，免疫和自身免疫发病机制在2型糖尿病中的研究要少得多。Toll样受体4（TLR4）在炎症、胰岛素抵抗和血管损伤中起主导作用。本研究旨在分析TLR4基因多态性与从糖尿病前期到2型糖尿病及慢性微血管并发症的血糖连续体不同阶段之间的关系。
该研究纳入了113例2型糖尿病患者、29例糖尿病前期参与者和28例对照。采用聚合酶链反应（PCR）对Asp299Gly和Thr399Ile多态性进行基因分型，随后进行限制性分析。
与对照组相比，2型糖尿病或糖尿病前期患者中这两种多态性的基因型频率差异不显著。Asp299Gly多态性杂合基因型患者的糖尿病视网膜病变患病率（42.9%）高于纯合基因型参与者（9.0%）（OR[95%CI]=7.61[1.41 - 41.08]；p=0.018）。未发现与糖尿病多发性神经病变和肾病有关联。慢性糖尿病并发症的患病率与Thr399Ile多态性无关。
我们的研究表明，Asp299Gly和Thr399Ile多态性似乎与2型糖尿病和糖尿病前期无关，但Asp299Gly可能易导致糖尿病视网膜病变。
