甲状腺激素受体β基因变异与甲状腺疾病相关性研究进展  

Correlation between TR β gene mutation and thyroid diseases

作　　者：张德新[1] 詹洁[1] 乔虹[2] 

机构地区：[1]哈尔滨医科大学附属第二医院急诊科,哈尔滨150086 [2]哈尔滨医科大学附属第二医院地方病科,哈尔滨150086

出　　处：《中国临床医学》2016年第3期388-391,共4页Chinese Journal of Clinical Medicine

基　　金：黑龙江省自然科学基金重点项目(ZD201220)~~

摘　　要：甲状腺激素受体β(thyroid hormone receptorβ,TRβ)在组织分化、生长发育、保持代谢平衡及调节甲状腺激素作用等方面具有重要作用。TRβ基因变异与甲状腺疾病之间有密切联系。研究发现大多数位于9、10号外显子上的突变位点与甲状腺激素抵抗综合征密切相关;而TRβ基因的rs13063628/rs1505287与促甲状腺激素水平(thyroid-stimulating hormone,TSH)水平相关。动物实验表明,TRβ基因突变影响甲状腺激素(thyroid hormone,TH)/甲状腺激素受体(thyroid hormone receptor,TR)对下游通路的调解,诱导下游癌基因的激活,参与甲状腺肿瘤发生、发展及转移。但在人类,关于TRβ基因变异与甲状腺癌的关系,目前尚未取得一致的结论,需进一步研究。TRβ plays an important role in histological differentiation,growth development,maintaining metabolic balance and mediating thyroid hormone.There is a close relationship between the mutation of TRβgene and thyroid diseases.It has been found that the majority of mutation sites located at exon 9 or 10 are significantly related to thyroid hormone resistance syndrome.TRβgene single nucleotide polymorphisms rs13063628/rs1505287 are related to TSH level and perhaps thyroid function.Animal experiments show that TRβgene mutation affects the mediation of the thyroid hormone/thyroid hormone receptor to downstream pathway,induces the activation of downstream oncogenes and participate in the occurrence,development and metastasis of thyroid tumor.But in humans,no consensus has been reached yet concerning the relationship between TRβgene mutation and thyroid carcinoma,so further study is required.

关 键 词：甲状腺激素受体β 基因变异 甲状腺激素抵抗综合征 甲状腺功能 甲状腺癌 

分 类 号：R581[医药卫生—内分泌]