Department of Endocrinology, Metabolism, and Internal Diseases, Poznan University of Medical Sciences, Poznan, Poland.
Department of Dermatology and Venereology, Poznan University of Medical Sciences, Poznan, Poland.
Biomed Res Int. 2019 Aug 21;2019:8197580. doi: 10.1155/2019/8197580. eCollection 2019.
Vitamin D, besides its role in calcium-phosphorus metabolism, turned out to play a significant immunomodulating function. Until now four single nucleotide polymorphisms of vitamin D receptor gene (), rs2228570 (I), rs1544410 (I), rs7975232 (I), and rs731236 (I), have been studied in autoimmune thyroid disorders, with conflicting results. Another functional polymorphism of the gene, rs11568820 (Cdx2), has been shown to influence the immune system, although it has not been studied for its association with autoimmune thyroiditis to date. Therefore, the study aimed to evaluate the association of these five gene polymorphisms with susceptibility to autoimmune thyroiditis among Caucasian Polish population. A relationship between the studied polymorphisms and selected clinical features of the disease was additionally assessed.
223 patients with autoimmune thyroiditis and 130 control subjects were enrolled in the study. polymorphisms were studied by PCR-RFLP or TaqMan real-time PCR.
Allele and genotype distributions of any of the studied polymorphisms did not differ significantly between patients and controls. Similarly, frequencies of haplotypes derived from rs1544410-rs7975232-rs731236 (I-I-I) polymorphisms were not significantly different in the two studied groups. However, a weak association between rs1544410 (I) or rs7975232 (I) polymorphisms and thyroid volume was found (p = 0.03 and p = 0.04, resp.).
Our results suggest that gene is not a major susceptibility factor for autoimmune thyroiditis development, at least in Caucasian Polish population.
维生素 D 除了在钙磷代谢中发挥作用外，还具有显著的免疫调节功能。到目前为止，维生素 D 受体基因（）的四个单核苷酸多态性(rs2228570[I]、rs1544410[I]、rs7975232[I]和 rs731236[I])已在自身免疫性甲状腺疾病中进行了研究，但结果存在争议。该基因的另一个功能多态性(rs11568820[Cdx2])已被证明影响免疫系统，但迄今为止尚未研究其与自身免疫性甲状腺炎的相关性。因此，本研究旨在评估这五个基因多态性与白种波兰人群自身免疫性甲状腺炎易感性的关系。此外，还评估了研究多态性与疾病相关临床特征的关系。
本研究纳入了 223 例自身免疫性甲状腺炎患者和 130 例对照者。通过 PCR-RFLP 或 TaqMan 实时 PCR 研究了基因的多态性。
任何研究多态性的等位基因和基因型分布在患者和对照组之间均无显著差异。同样，在两个研究组中，来自 rs1544410-rs7975232-rs731236（I-I-I）多态性的单倍型频率也无显著差异。然而，发现 rs1544410（I）或 rs7975232（I）多态性与甲状腺体积之间存在弱相关性（p=0.03 和 p=0.04）。
我们的结果表明，基因不是自身免疫性甲状腺炎发展的主要易感因素，至少在白种波兰人群中是这样。
