Department of Medical, Surgical and Neurological Sciences, University of Siena, Siena, Italy.
Endocrine. 2019 Dec;66(3):551-556. doi: 10.1007/s12020-019-02001-z. Epub 2019 Jul 6.
Several single-nucleotide polymorphisms in genes encoding for transporters have been associated with serum thyroid hormone concentrations with inconsistent results. The aim of this study was to assess the clinical significance of the rs17606253 in SLC16A10 gene alone and in combination with the DIO2 Thr92Ala variation in athyreotic patients.
One-hundred patients submitted to total thyroidectomy and treated with levothyroxine were included. Pre- and post surgical serum TSH levels did not differ by more than ± 0.5 mIU/l.
Both patients carrying the wild-type allele or heterozygous for rs17606253 in SLC16A10 gene had a significant reduction in FT3 post surgical levels (p = 0.01 and p < 0.0001, respectively) while Thr92Ala in DIO2 gene was associated with reduced FT3 levels for heterozygous and rare homozygous patients (p < 0.0001 and p = 0.01, respectively). We identified two groups ("FT3 unchanged" and "FT3 reduced") using a cutoff of at least 0.5 pg/ml as a significant variation between pre- and post surgical FT3 values. In this case, the rs17606253 was not statistically associated with reduced FT3 levels at genotype and allele levels. On the contrary, the Thr92Ala in DIO2 gene was confirmed statistically associated with reduced FT3 levels after surgery with a p = 0.035 at genotype level and p = 0.014 at allele level.
We confirmed the role of DIO2 Thr92Ala polymorphism on T3 levels. On the contrary, SLC16A1 rs17606253 polymorphism did not impair hormone levels in athyreotic patients treated with levothyroxine therapy.
已有研究表明，编码转运体的基因中的几个单核苷酸多态性与血清甲状腺激素浓度有关，但结果不一致。本研究旨在评估 SLC16A10 基因中的 rs17606253 单核苷酸多态性以及与 DIO2 Thr92Ala 变异联合在甲状腺功能减退患者中的临床意义。
纳入 100 例接受甲状腺全切除术并接受左甲状腺素治疗的患者。术前和术后血清 TSH 水平相差不超过±0.5 mIU/L。
SLC16A10 基因中 rs17606253 野生型或杂合型的患者术后 FT3 水平均显著降低（p=0.01 和 p<0.0001），而 DIO2 基因中的 Thr92Ala 与杂合和罕见纯合患者的 FT3 水平降低相关（p<0.0001 和 p=0.01）。我们使用至少 0.5 pg/ml 作为术前和术后 FT3 值之间显著变化的截值来确定两个组（“FT3 不变”和“FT3 降低”）。在这种情况下，rs17606253 在基因型和等位基因水平上与 FT3 降低无关。相反，DIO2 基因中的 Thr92Ala 在手术后与 FT3 降低统计学相关，基因型水平的 p=0.035，等位基因水平的 p=0.014。
我们证实了 DIO2 Thr92Ala 多态性对 T3 水平的作用。相反，SLC16A10 rs17606253 多态性在接受左甲状腺素治疗的甲状腺功能减退患者中不会影响激素水平。
