Mestiri S, Zaaber I, Nasr I, Marmouch H
Laboratory of Genetics, Biodiversity and Bioresource Valorization, Superior Institute of Biotechnology of Monastir, University of Monastir, Monastir, Tunisia.
Department of Internal Medicine-Endocrinology, Hospital Fattouma Bourguiba, Monastir, Tunisia.
Balkan J Med Genet. 2020 Aug 26;23(1):69-76. doi: 10.2478/bjmg-2020-0011. eCollection 2020 Jun.
Hashimoto's thyroiditis (HT) and Graves' disease (GD) are autoimmune thyroid diseases (AITD) that cause hypothyroidism and hyperthyroidism, respectively. The vitamin D receptor (VDR) and the Fey receptor IIA (FcγRIIA), are implicated in the etiology of AITD. This study was conducted to examine the implication of rs7975232 and rs 1801274 variations in the susceptibility and the prognosis of AITD in the Tunisian population. The rs7975232 and rs1801274 (R131H) polymorphisms were analyzed in 162 controls and 162 AITD patients (106 HT and 56 GD) by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and amplification of refractory mutation system-PCR (ARMS-PCR), respectively. No significant difference was demonstrated for the rs7975232 between patients and controls. However, a significant association was shown between the rs1801274 polymorphism and AITD or HT in the dominant ( = 0.03 or 0.01), codominant ( 0.019 or 0.026) and allelic ( 0.011 0.012) models. The rs7975232 was associated with the absence or the presence of anti-thyroglobulin antibody, with the age of AITD and GD patients during the first diagnosis ( 0.01 and = 0.009, respectively) and with a high T4 level at the beginning of HT disease. However, the gene polymorphism was associated with a low T4 level at the beginning of GD disease. In conclusion, this study indicates that only the variation could be related to AITD and HT susceptibility and that and gene variations constitute factors to prognosticate the severity of AITD, HT and GD.
桥本甲状腺炎(HT)和格雷夫斯病(GD)是自身免疫性甲状腺疾病(AITD),分别导致甲状腺功能减退和甲状腺功能亢进。维生素D受体(VDR)和费伊受体IIA(FcγRIIA)与AITD的病因有关。本研究旨在探讨rs7975232和rs1801274变异在突尼斯人群AITD易感性和预后中的作用。通过聚合酶链反应-限制性片段长度多态性(PCR-RFLP)和难扩增突变系统-PCR(ARMS-PCR)分别对162例对照和162例AITD患者(106例HT和56例GD)的rs7975232和rs1801274(R131H)多态性进行分析。患者与对照之间的rs7975232无显著差异。然而,rs1801274多态性与AITD或HT在显性(P = 0.03或0.01)、共显性(P = 0.019或0.026)和等位基因(P = 0.011对0.012)模型中存在显著关联。rs7975232与抗甲状腺球蛋白抗体的有无、首次诊断时AITD和GD患者的年龄(分别为P = 0.01和P = 0.009)以及HT疾病开始时的高T4水平相关。然而,该基因多态性与GD疾病开始时低T4水平相关。总之,本研究表明,只有该变异可能与AITD和HT易感性有关,而该基因变异构成预测AITD、HT和GD严重程度的因素。