HOTAIR基因rs920778多态性及H19基因rs3741219多态性与桥本甲状腺炎（HT）和格雷夫斯病（GD）的关联
Association Between HOTAIR rs920778 and H19 rs3741219 Polymorphisms with Hashimoto's Thyroiditis (HT) and Graves' Disease (GD).
作者信息
Beiramzadeh Alireza, Heidari Zahra, Norouzi Mahtab, Saravani Mohsen
机构信息
Department of Clinical Biochemistry, School of Medicine, Zahedan University of Medical Sciences, Zahedan, Iran.
Department of Internal Medicine, School of Medicine, Zahedan University of Medical Sciences, Zahedan, Iran.
出版信息
Rep Biochem Mol Biol. 2022 Oct;11(3):377-385. doi: 10.52547/rbmb.11.3.377.
BACKGROUND
Graves' disease (GD) and Hashimoto's thyroiditis (HT) are two autoimmune thyroid diseases (AITDs). The current study aimed to assess possible association between HOTAIR rs920778 and H19 rs3741219 polymorphisms with GD and HT.
METHODS
We recruited 248 patients with autoimmune thyroid disease (133 HT patients and 115 GD patients) and 135 age- and sex-matched controls. The PCR-RFLP method was applied for genotyping of HOTAIR rs920778, and H19 rs3741219 polymorphisms.
RESULTS
The HOTAIR rs920778 GA frequency was significantly higher in control compared to HT group. The Overdominant model showed a significant association with the risk of HT. However, no significant association was observed between this polymorphism and HT susceptibility in dominant and recessive models. The H19 rs3741219 GA was more repeated in HT patients compared to control group, but the difference was not significant. There was no association between HOTAIR rs920778 and H19 rs3741219 polymorphisms with GD in all genetic models.
DISCUSSION
Our findings indicated that HOTAIR rs920778 polymorphism decreased the risk of HT. Since, this the first study, further studies with different races are required to confirm our results.
背景
格雷夫斯病（GD）和桥本甲状腺炎（HT）是两种自身免疫性甲状腺疾病（AITD）。本研究旨在评估HOTAIR基因rs920778和H19基因rs3741219多态性与GD和HT之间可能存在的关联。
方法
我们招募了248例自身免疫性甲状腺疾病患者（133例HT患者和115例GD患者）以及135例年龄和性别匹配的对照。采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法对HOTAIR基因rs920778和H19基因rs3741219多态性进行基因分型。
结果
与HT组相比，对照组中HOTAIR基因rs920778的GA基因型频率显著更高。超显性模型显示与HT风险存在显著关联。然而，在显性和隐性模型中，该多态性与HT易感性之间未观察到显著关联。与对照组相比，HT患者中H19基因rs3741219的GA基因型出现频率更高，但差异不显著。在所有遗传模型中，HOTAIR基因rs920778和H19基因rs3741219多态性与GD之间均无关联。
讨论
我们的研究结果表明，HOTAIR基因rs920778多态性降低了HT的风险。由于这是首次进行此类研究，需要开展不同种族的进一步研究来证实我们的结果。
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