Rebaï Maha, Kallel Imen, Rebaï Ahmed
Molecular and Cellular Diagnosis Processes, Centre of Biotechnology of Sfax, University of Sfax, Route Sidi Mansour, PO Box 1177, 3018 Sfax, Tunisia.
J Genet. 2012;91(3):367-74. doi: 10.1007/s12041-012-0179-x.
Thyroid hormone receptors (TR) are prototypes of nuclear transcription factors that regulate the expression of target genes. These receptors play an important role in many physiological processes. Moreover, a dysfunction of these proteins is often implicated in several human diseases and malignancies. Here we report genetic variations and alterations of the TRs that have been described in the literature as well as their potential role in the development of some human diseases including cancers. The functional effects of some mutations and polymorphisms in TRs on disease susceptibility, especially on cancer risk, are now established. Therefore, further investigations are needed in order to use these receptors as therapeutic targets or as biological markers to decide on appropriate forms of treatment.
甲状腺激素受体（TR）是调节靶基因表达的核转录因子的原型。这些受体在许多生理过程中发挥着重要作用。此外，这些蛋白质的功能障碍常与多种人类疾病和恶性肿瘤有关。在此，我们报告文献中描述的TR的基因变异和改变，以及它们在包括癌症在内的一些人类疾病发展中的潜在作用。现已确定TR中某些突变和多态性对疾病易感性，尤其是癌症风险的功能影响。因此，需要进一步研究，以便将这些受体用作治疗靶点或生物标志物，从而确定合适的治疗形式。
