人类β3肾上腺素受体基因多态性与疾病相关性研究进展

人类β3肾上腺素受体在机体的能量动员和利用的调节中发挥着举足轻重的作用。β3受体基因的第64个密码子发生错义突变,导致色氨酸被精氨酸置换。这个突变在细胞系和分离的人体脂肪组织细胞中均对受体功能产生影响。同时它与2型糖尿病发病提早、胰岛素抵抗的某些特征和肥胖有密切的联系。最近研究发现,Trp64Arg突变与许多其他候选基因的突变有累加和协同作用。本文主要对人类β3肾上腺素受体多态性的功能意义及其与疾病的相关性作一综述。

Advanced study on the association between human β3-adrenoceptor genetic polymorphism and diseases

The human β3-adrenoceptor plays an important role in the regulation of energy mobilization and utilization. A missense mutation in codon 64 of the gene for the β3-adrenoceptor with a replacement of tryptophan to arginine (Trp64Arg) was found. This polymorphism influences receptor function when expressed in artificial cell lines or in isolated human fat cells. It is associated with an earlier onset of type 2 diabetes mellitus, features of insulin resistance and tendency to gain weight. Recent evidences suggest that Trp64Arg has additive and interactive effects with a number of other candidate gene variants. The functional significance of human β3-adrenoceptor polymorphism and its association with metabolic diseases are reviewed in this paper.