Bautista-Medina Mario Arturo, Gallardo-Blanco Hugo Leonid, Martinez-Garza Laura Elia, Cerda-Flores Ricardo Martin, Lavalle-Gonzalez Fernando Javier, Villarreal-Perez Jesus Zacarias
Endocrinology Department, University Hospital José Eleuterio González, Autonomous University of Nuevo León, Monterrey, Nuevo León 64460, Mexico.
Department of Genetics, University Hospital José Eleuterio González, Autonomous University of Nuevo León, Monterrey, Nuevo León 64460, Mexico.
Biomed Rep. 2020 Oct;13(4):24. doi: 10.3892/br.2020.1331. Epub 2020 Jul 17.
Hypokalemic periodic paralysis type 1 (OMIM; HOKPP1) and type 2 (OMIM; HOKPP2) are diseases of the muscle characterized by episodes of painless muscle weakness, and is associated with low potassium blood levels. Hyperthyroidism has been associated with thyrotoxic periodic paralysis (TTPP) (OMIM; TTPP1 and TTPP2), and genetic susceptibility has been implicated. In the present study, the clinical and epidemiological characteristics of patients with TTPP are described, together with their association with genetic variants reported previously in other populations. A prospective and a retrospective search of the medical records of patients who attended the emergency department at the Hospital Universitario 'Dr. Jose E. Gonzalez' in Monterrey, Nuevo León, Mexico, and were diagnosed with TTPP was performed. A total of 16 gene variants in the genes , , and , and nine ancestry informative markers (AIMs), were analysed by Multiplex TaqMan™ Open Array assay, and a genetic association study was performed. A total of 11 patients were recruited, comprising nine males and two females (age range, 19-52 years) and 64 control subjects. Only two cases (18%) had a previous diagnosis of hyperthyroidism; the rest were diagnosed subsequently with Graves' disease. Based on the analysis, two DNA variants were found to potentially confer an increased risk for TTPP: rs3737576 [odds ratio (OR), 4.38; 95% confidence interval (CI), 1.08-17.76] and AIM rs2330442 (OR, 4.50; 95% CI, 1.21-16.69), and one variant was suggested to be possibly associated with TTPP, namely rs4072037 (OR, 3.08; 95% CI, 0.841-1.38). However, there were no statistically significant associations between any of the 24 DNA variants and TTPP in a population from northeast Mexico.
1型低钾性周期性麻痹（OMIM；HOKPP1）和2型低钾性周期性麻痹（OMIM；HOKPP2）是肌肉疾病，其特征为无痛性肌无力发作，并与血钾水平降低有关。甲状腺功能亢进症与甲状腺毒症性周期性麻痹（TTPP）（OMIM；TTPP1和TTPP2）有关，并且涉及遗传易感性。在本研究中，描述了TTPP患者的临床和流行病学特征，以及它们与先前在其他人群中报道的基因变异的关联。对墨西哥新莱昂州蒙特雷“何塞·E·冈萨雷斯博士”大学医院急诊科就诊并被诊断为TTPP的患者的病历进行了前瞻性和回顾性检索。通过多重TaqMan™开放阵列分析对基因、、和中的总共16个基因变异以及9个祖先信息标记（AIM）进行了分析，并进行了遗传关联研究。共招募了11名患者，包括9名男性和2名女性（年龄范围19 - 52岁）以及64名对照受试者。只有2例（18%）先前被诊断为甲状腺功能亢进症；其余患者随后被诊断为格雷夫斯病。基于分析，发现两个DNA变异可能会增加TTPP的风险：rs3737576 [比值比（OR），4.38；95%置信区间（CI），1.08 - 17.76]和AIM rs2330442（OR），4.50；95% CI，1.21 - 16.69），并且一个变异被认为可能与TTPP相关，即rs4072037（OR，3.08；95% CI，0.841 - 1.38）。然而，在墨西哥东北部人群中，这24个DNA变异中的任何一个与TTPP之间均无统计学显著关联。
