Park Suyeon, Kim Tae Yong, Sim Soyoung, Oh Hye-Seon, Song Eyun, Kim Mijin, Kwon Hyemi, Choi Yun Mi, Jeon Min Ji, Kim Won Gu, Shong Young Kee, Kim Won Bae
Department of Internal Medicine, Asan Medical Center, University of Ulsan College of Medicine, Seoul 05505, Korea.
Asan Institute of Life Sciences, Seoul 05505, Korea.
Exp Clin Endocrinol Diabetes. 2017 Feb;125(2):75-78. doi: 10.1055/s-0042-119527. Epub 2016 Dec 22.
Thyrotoxic periodic paralysis (TPP) is characterized by acute onset paralysis and hypokalemia predominantly in male patients with thyrotoxicosis. Recent studies have emphasized the importance of potassium channels, which might explain the underlying mechanism of TPP. The gene encodes the inward-rectifying potassium channel. In this study, we evaluated the role of in the development of TPP. Case-control analysis of genetic association with TPP. 83 male patients with Graves' disease (GD) were recruited for this study; 43 patients had TPP, whereas 40 patients had no history of TPP. We analyzed the genotype and allelic frequency of a single-nucleotide polymorphism (SNP; rs312691) (C>T) adjacent to the gene that is known to be related to TPP development. The frequency of the CC genotype of the rs312691 SNP was 0.51 in TPP patients and 0.05 in controls (value=6.18×10). The C allele frequency of the SNP was 0.67 in the TPP group and 0.38 in the control group (odds ratio 3.24; 95% confidence interval 1.65-6.51; value, 3.1×10). The rs312691 SNP was significantly associated with TPP. We demonstrated that the rs312691 SNP was significantly associated with TPP. These findings suggest that plays an important role in the pathophysiology of TPP in Korean GD patients with TPP.
甲状腺毒症性周期性瘫痪（TPP）的特征是急性发作性瘫痪和低钾血症，主要见于患有甲状腺毒症的男性患者。最近的研究强调了钾通道的重要性，这可能解释了TPP的潜在机制。该基因编码内向整流钾通道。在本研究中，我们评估了该基因在TPP发病中的作用。对该基因与TPP进行遗传关联的病例对照分析。本研究招募了83例男性Graves病（GD）患者；43例患者患有TPP，而40例患者无TPP病史。我们分析了与该基因相邻的一个单核苷酸多态性（SNP；rs312691）（C>T）的基因型和等位基因频率，已知该SNP与TPP的发生有关。rs312691 SNP的CC基因型频率在TPP患者中为0.51，在对照组中为0.05（P值=6.18×10）。该SNP的C等位基因频率在TPP组中为0.67，在对照组中为0.38（比值比3.24；95%置信区间1.65 - 6.51；P值，3.1×10）。rs312691 SNP与TPP显著相关。我们证明了rs312691 SNP与TPP显著相关。这些发现表明该基因在韩国患有TPP的GD患者的TPP病理生理过程中起重要作用。
