Implication of VDR Rs7975232 and FCGR2A Rs1801274 Gene Polymorphisms in the Risk and the Prognosis of autoimmune Thyroid Diseases in the Tunisian Population.

IF 0.5 4区 医学 Q4 GENETICS & HEREDITY Balkan Journal of Medical Genetics Pub Date : 2020-08-26 eCollection Date: 2020-06-01 DOI:10.2478/bjmg-2020-0011
S Mestiri, I Zaaber, I Nasr, H Marmouch
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引用次数: 2

Abstract

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 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.

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VDR Rs7975232和FCGR2A Rs1801274基因多态性在突尼斯人群自身免疫性甲状腺疾病风险和预后中的意义
桥本甲状腺炎(HT)和格雷夫斯病(GD)是分别引起甲状腺功能减退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 (FcγRIIA)与AITD的病因有关。本研究旨在探讨突尼斯人群中VDR rs7975232和FCGR2A rs 1801274变异对AITD易感性和预后的影响。采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)和难解突变系统扩增(ARMS-PCR)对162例对照和162例AITD患者(106 HT和56 GD)的rs7975232和rs1801274 (R131H)多态性进行分析。rs7975232在患者和对照组之间无显著差异。然而,在显性(p = 0.03或p = 0.01)、共显性(p = 0.019或p = 0.026)和等位基因(p = 0.011或p = 0.012)模型中,rs1801274多态性与AITD或HT之间存在显著关联。rs7975232与抗甲状腺球蛋白抗体的缺失或存在、AITD和GD患者首次诊断时的年龄(p = 0.01和p = 0.009)以及HT发病初期的高T4水平相关。然而,FCGR2A基因多态性与GD疾病开始时低T4水平相关。综上所述,本研究提示只有FCGR2A基因变异与AITD和HT易感性相关,VDR和FCGR2A基因变异是预测AITD、HT和GD严重程度的因素。
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1.00
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>12 weeks
期刊介绍: Balkan Journal of Medical Genetics is a journal in the English language for publication of articles involving all branches of medical genetics: human cytogenetics, molecular genetics, clinical genetics, immunogenetics, oncogenetics, pharmacogenetics, population genetics, genetic screening and diagnosis of monogenic and polygenic diseases, prenatal and preimplantation genetic diagnosis, genetic counselling, advances in treatment and prevention.
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