Vejrazková D, Bendlová B
Endokrinologický ustav, Praha.
Cas Lek Cesk. 2005;144(11):721-5; discussion 725-6.
Type 2 DM represents a multifactorial disease--both genetic and environmental factors are implicated in the etiology. In spite of an enormous effort, unraveling the genetics of type 2 DM has proved problematic. A polygenic inheritance is proposed for most cases. More than 250 candidate genes have been studied and increasing attention is being directed at two of them: the PPARgamma2 gene (peroxisome proliferator-activated receptor gama2) and KCNJ11 (potassium channel inwardly rectifying). The PPARgamma2 is a member of the nuclear hormone receptor subfamily of transcription factors. It plays a key role in regulation of adipocyte differentiation and energy balance. The KCNJ11 gene codes for a pore-forming subunit of the inwardly rectifying ATP sensitive K+ channel, which is involved in the direct regulation of insulin secretion. Here, recent knowledge regarding involvement of these two genes in complex metabolic pathways is summarized. In the whole review, we focus on the glucose homeostasis.
2型糖尿病是一种多因素疾病，其病因涉及遗传和环境因素。尽管付出了巨大努力，但揭示2型糖尿病的遗传学仍存在问题。大多数病例被认为是多基因遗传。已经研究了250多个候选基因，其中两个基因受到越来越多的关注：PPARγ2基因（过氧化物酶体增殖物激活受体γ2）和KCNJ11（内向整流钾通道）。PPARγ2是转录因子核激素受体亚家族的成员。它在脂肪细胞分化和能量平衡的调节中起关键作用。KCNJ11基因编码内向整流ATP敏感性钾通道的孔形成亚基，该通道参与胰岛素分泌的直接调节。在此，总结了关于这两个基因参与复杂代谢途径的最新知识。在整个综述中，我们关注葡萄糖稳态。
