Winkler Gábor, Gerô László
Fővárosi Szent János Kórház és Észak-budai Egyesített Intézményei II. Belgyógyászat-Diabetológia Budapest.
Orv Hetil. 2011 Oct 9;152(41):1651-60. doi: 10.1556/OH.2011.29175.
Type 2 diabetes is making up to 90% of the all diabetic cases. In addition to insulin resistance, insufficient B-cell function also plays an important role in the pathogenesis of the disease. The insufficient production and secretion of insulin can be increased by secretagogue drugs, like sulfonylureas and incretin mimetics/enhancers. In recent years growing number of genetic failures of the B-cells has been detected. These genetic variants can influence the efficacy of secretagogue drugs. Some of these gene polymorphisms were identified in the genes encoding the KATP channel (KCNJ11 and ABCC8). These mutations are able either to reduce or increase the insulin secretion and can modify the insulin response to sulfonylurea treatment. Other polymorphisms were found on genes encoding enzymes or transcription factors. In recent years, the genetic variants of TCF7L2 and its clinical importance have been intensely studied. Authors give a summary of the above gene polymorphisms and their role in insulin secretion.
2型糖尿病占所有糖尿病病例的90%。除胰岛素抵抗外，B细胞功能不足在该疾病的发病机制中也起重要作用。促分泌剂药物（如磺脲类药物和肠促胰岛素类似物/增强剂）可增加胰岛素分泌不足的情况。近年来，已检测到越来越多的B细胞基因缺陷。这些基因变异可影响促分泌剂药物疗效。其中一些基因多态性在编码KATP通道的基因（KCNJ11和ABCC8）中被发现。这些突变能够减少或增加胰岛素分泌，并可改变胰岛素对磺脲类治疗的反应。在编码酶或转录因子的基因上发现了其他多态性。近年来，对TCF7L2的基因变异及其临床重要性进行了深入研究。作者总结了上述基因多态性及其在胰岛素分泌中的作用。
