β细胞功能相关2型糖尿病易患基因的研究进展

Research Progress in β-cell Function Associated Susceptible Genes of Type 2 Diabetes

2型糖尿病是环境和遗传因素共同作用引起的代谢紊乱,是以胰岛素分泌不足和作用障碍引起高血糖为特征的临床综合征。此前,大多数关联分析和候选基因研究只发现了少量的2型糖尿病相关疾病易患基因位点,而全基因组关联研究的出现改变了这种格局,发现了大量与2型糖尿病相关性较强的基因位点,其中大多与β细胞功能下降相关。2型糖尿病易患基因的发现,有助于人们更好地了解其发病机制,并制订相应的诊断、预防和治疗措施。该文就2型糖尿病易患基因与β细胞功能的相关性予以综述。

Type 2 diabetes mellitus （ T2DM） is a complex metabolic disorder arising from a complicated influence of genetic and environmental factors.It is characterized by hyperglycemia,insulin resistance,and impaired insulin secretion.Despite numerous candidate gene and linkage studies,the field of T2DM genetics has succeeded in identifying only few genuine disease-susceptibility loci.The advent of genome-wide associa-tion study has transformed the situation,leading to an expansion in the number of established,robustly repli-cating T2DM loci,most of which are associated with pancreatic βcell dysfunction.Identification and charac-terization of genes involved in determining T2DM will contribute to a better understanding of the pathogenesis of T2DM,and ultimately might lead to the development of better diagnosis,prevention and treatment.Here is to make a review of the association between T2DM susceptibility genes and βcell function.