Liu Chunbo, Wu Changjun, Wang Fengjun, Zhou Min
Department of Ultrasound, First Affiliated Hospital of Harbin Medical University, Harbin, China.
Ann Otol Rhinol Laryngol. 2010 Feb;119(2):118-24. doi: 10.1177/000348941011900209.
This study aimed to detect the mutations of the GNAS and TSHR genes in subclinical toxic multinodular goiter (sTMG) and to evaluate the relationship between these mutations and sTMG.
Forty-four patients with sTMG and 20 matched controls (multinodular goiter) were recruited into this study. All of the patients underwent subtotal thyroidectomy. Gene mutations were analyzed by direct DNA sequencing of the polymerase chain reaction-amplified part of exons.
In the sTMG group, 3 mutations of the GNAS gene were identified in 7 patients (15.9%), and 6 mutations of the TSHR gene were identified in 14 patients (31.8%). The mutation rate of the TSHR gene in patients with sTMG was significantly higher than that in the control group. Furthermore, in the sTMG group, statistical analysis indicated that mutations were significantly correlated with the serum level of thyroid-stimulating hormone for the TSHR gene, but no significant difference was found for the GNAS gene. Also, no significant difference was found in mutation positivity of the 2 genes between patients with nodules who were born before universal salt iodization and patients with nodules who were born afterward (p > 0.05).
The results indicate that a mutation of the TSHR gene may be related to sTMG. The serum thyroid-stimulating hormone level plays an important role in the mutagenesis.
本研究旨在检测亚临床毒性多结节性甲状腺肿（sTMG）中GNAS和TSHR基因的突变情况，并评估这些突变与sTMG之间的关系。
本研究纳入了44例sTMG患者和20例匹配的对照（多结节性甲状腺肿）。所有患者均接受了甲状腺次全切除术。通过对聚合酶链反应扩增的外显子部分进行直接DNA测序来分析基因突变。
在sTMG组中，7例患者（15.9%）检测到GNAS基因的3个突变，14例患者（31.8%）检测到TSHR基因的6个突变。sTMG患者中TSHR基因的突变率显著高于对照组。此外，在sTMG组中，统计分析表明TSHR基因突变与血清促甲状腺激素水平显著相关，但GNAS基因未发现显著差异。同样，在普遍食盐碘化之前出生的结节患者和之后出生的结节患者中，这两个基因的突变阳性率也未发现显著差异（p>0.05）。
结果表明TSHR基因突变可能与sTMG有关。血清促甲状腺激素水平在诱变过程中起重要作用。
