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首页> 外文期刊>Balkan journal of medical genetics: BJMG >Implication of VDR rs7975232 and FCGR2A rs1801274 gene polymorphisms in the risk and the prognosis of autoimmune thyroid diseases in the Tunisian population
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Implication of VDR rs7975232 and FCGR2A rs1801274 gene polymorphisms in the risk and the prognosis of autoimmune thyroid diseases in the Tunisian population

机译：VDR RS7975232和FCGR2A RS1801274基因多态性对突尼斯人群自身免疫性甲状腺疾病的风险和预后的影响

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Hashimotoa??s thyroiditis (HT) and Gravesa?? disease (GD) are autoimmune thyroid diseases (AITD) that cause hypothyroidism and hyperthyroidism, respectively. The vitamin D receptor (VDR) and the Fey receptor IIA (Fc?3RIIA), are implicated in the etiology of AITD. This study was conducted to examine the implication of VDR rs7975232 and FCGR2A 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 (p = 0.03 or p = 0.01), codominant (p = 0.019 or p = 0.026) and allelic (p = 0.011 or p = 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 (p = 0.01 and p = 0.009, respectively) and with a high T4 level at the beginning of HT disease. However, the FCGR2A gene polymorphism was associated with a low T4 level at the beginning of GD disease. In conclusion, this study indicates that only the FCGR2A variation could be related to AITD and HT susceptibility and that VDR and FCGR2A gene variations constitute factors to prognosticate the severity of AITD, HT and GD.
机译：hashimotoa？s甲状腺炎（ht）和gravesa ??疾病（GD）分别是引起甲状腺功能亢进和甲状腺功能亢进的自身免疫性甲状腺疾病（AITD）。维生素D受体（VDR）和FEY受体IIA（FC？3RIIA）涉及AITD的病因。本研究进行了审查VDR RS7975232和FCGR2A RS 1801274在突尼斯人群中易感性和AITD预后的变化的含义。通过聚合酶链反应限制片段长度多态性（PCR-RFLP）和难敏突变体系-PCR的扩增（PCR-PCR ）， 分别。患者与对照之间的RS7975232没有显着差异。然而，在优势中的RS1801274多态性和AITD或HT之间显示了一个重要的关联（p = 0.03或p = 0.01），Codominant（p = 0.019或p = 0.026）和等位基因（p = 0.011或p = 0.012）模型。 RS7975232与缺乏或存在抗甲状腺球蛋白抗体有关，随着AITD和GD患者的年龄，在第一诊断期间（P = 0.01和P = 0.009），并且在HT开始时具有高T4水平疾病。然而，FCGR2A基因多态性在GD疾病开始时与低T4水平相关。总之，本研究表明，只有FCGR2A变异可能与AITD和HT易感性有关，并且VDR和FCGR2A基因变异构成预后对AITD，HT和GD的严重程度的因素。

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