Maino Fabio, Cantara Silvia, Forleo Raffaella, Pilli Tania, Castagna Maria Grazia
a Department of Medical, Surgical and Neurological Sciences , University of Siena , Siena , Italy.
Expert Rev Endocrinol Metab. 2018 Sep;13(5):273-277. doi: 10.1080/17446651.2018.1523714. Epub 2018 Sep 27.
Biological activity of thyroid hormones (TH) is regulated by enzymes known as deiodinases. The most important is represented by the type 2 deiodinase (D2), which is the main T4-activating enzyme, ubiquitous in human tissues and therefore essential in many metabolic processes. A single nucleotide polymorphism (SPN) of D2, known as Thr92Ala (rs225014), has been reported in the general population while other polymorphisms are less frequently described.
Several authors investigated the potential metabolic effect of these polymorphisms in the general population and in specific groups of patients. Thr92Ala polymorphism was mainly studied in patients with autoimmune or surgical hypothyroidism and in patients with physical/psychological disorders that could be related to an overt hypothyroidism. Susceptibility to develop more severe type 2 diabetes or insulin resistance has also been evaluated.
There is an increasing evidence that the presence of D2 polymorphisms may play a pivotal role in a better definition and customized therapeutic approach of patients with hypothyroidism and/or type 2 diabetes, suggesting that these patients should be screened for D2 polymorphisms. Nevertheless, further research should be performed in order to clarify the association between D2 polymorphisms, metabolic alterations and clinical conditions of the carrier patients.
甲状腺激素（TH）的生物活性由称为脱碘酶的酶调节。其中最重要的是2型脱碘酶（D2），它是主要的T4激活酶，在人体组织中普遍存在，因此在许多代谢过程中至关重要。D2的一种单核苷酸多态性（SPN），称为Thr92Ala（rs225014），已在普通人群中报道，而其他多态性的描述较少。
几位作者研究了这些多态性在普通人群和特定患者群体中的潜在代谢作用。Thr92Ala多态性主要在自身免疫性或手术性甲状腺功能减退患者以及可能与明显甲状腺功能减退有关的身体/心理障碍患者中进行研究。还评估了发生更严重2型糖尿病或胰岛素抵抗的易感性。
越来越多的证据表明，D2多态性的存在可能在更好地定义和定制甲状腺功能减退和/或2型糖尿病患者的治疗方法中起关键作用，这表明这些患者应进行D2多态性筛查。然而，需要进行进一步的研究以阐明D2多态性、代谢改变与携带多态性患者临床状况之间的关联。
