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肝细胞核因子4α(HNF-4α)属于核受体超家族成员,是在肝、肠、胰等组织器官中表达的一种细胞特异性转录因子。HNF-4α被认为在涉及肝脏、胰脏β细胞的发育、分化及功能的基因表达中有调节作用,并能维持葡萄糖稳态。它与其他HNF组成HNFs转录调节网络,参与组织分化和能量代谢。HNF-4α突变型可诱发青少年发病的成年型糖尿病(MODY1)。近年来研究表明,HNF-4α基因的单核苷酸多态性(SNPs)可能与2型糖尿病易感性有关。全面系统分析HNF-4α在2型糖尿病发病中的遗传病理学机制,对预防和治疗2型糖尿病具有十分重要的意义。
Hepatocyte nuclear factor 4α (HNF-4α), a member of the nuclear receptor superfamily, is a cell-specific transcription factor expressed in tissues and organs such as liver, intestine and pancreas. HNF-4α is thought to regulate the expression of genes involved in the development, differentiation and function of liver, pancreatic β-cells, and maintain glucose homeostasis. It and other HNF HNFs transcriptional regulation network, involved in tissue differentiation and energy metabolism. HNF-4α mutants induce juvenile onset adult-type diabetes mellitus (MODY1). In recent years, studies have shown that single nucleotide polymorphisms (SNPs) of HNF-4α gene may be related to the susceptibility to type 2 diabetes. A comprehensive and systematic analysis of the genetic pathology of HNF-4α in type 2 diabetes is of great importance in the prevention and treatment of type 2 diabetes.