研究动态
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维生素 D 受体基因多态性 (Fok 1)、维生素 D 状态与自身免疫性甲状腺炎之间的关联。

Association between Vitamin D Receptor Gene Polymorphism (Fok 1), Vitamin D Status and Autoimmune Thyroiditis.

发表日期:2024 Jul
作者: M Sinharay, A Dasgupta, A Karmakar
来源: Protein & Cell

摘要:

自身免疫性甲状腺炎逐渐破坏甲状腺,导致甲状腺功能减退,甚至可能导致甲状腺乳头状癌。维生素 D 缺乏与自身免疫的发展有关。多项研究表明维生素 D 受体基因的单核苷酸多态性与自身免疫性疾病有关。在这项以医院为基础的非介入横断面研究中,对 48 名成人病例和 50 名年龄和性别匹配的健康对照者的纯化 DNA 进行了维生素 D 受体基因 FokI (rs2228570) 多态性的研究。这项研究于2021年1月至2022年7月在印度西孟加拉邦加尔各答加尔各答国立医学院生物化学系进行。使用苯酚氯仿法分离他们的DNA,并使用适当的限制性消化分析相关的单核苷酸多态性。 PCR扩增后限制性内切酶。通过卡方和比值比检验估计两组之间等位基因频率的差异。维生素 D 抗 TPO 抗体与甲状腺激素状态与多态性变异之间的任何潜在关联均通过三种基因型之间的事后方差分析进行评估。 FF基因型的分布在病例组中显着较高(X²=10.2788,p=0.006)。等位基因 F 的优势比在病例组中显着较高,95% 置信区间的范围为 1.97 至 5.94(X²=13.9678,p=<0.001)。与 Ff 和 ff 基因型相比,FF 基因型组的维生素 D 显着最低(p=0.008),抗 TPO 抗体最高(p=0.031)。因此,在印度东部的研究人群中,VDR 基因 Fok1(rs2228570) 多态性与自身免疫性甲状腺炎之间揭示了显着关联,其中 FF 基因型的优势是自身免疫性甲状腺炎和维生素 D 缺乏的强烈易感因素。
Autoimmune thyroiditis gradually destroys the thyroid gland leading to hypothyroidism and may even lead to papillary thyroid carcinoma. Deficiency of Vitamin D has been linked to development of autoimmunity. Single nucleotide polymorphisms of the Vitamin D receptor gene have associated with autoimmune diseases in several studies. In this hospital based non interventional cross-sectional study Vitamin D receptor gene was studied for FokI (rs2228570) polymorphism from purified DNA in forty-eight adult cases and fifty age and sex matched healthy controls. This study was conducted in the department of Biochemistry, Calcutta National Medical College, Kolkata, West Bengal, India from January 2021 to July 2022. Their DNA was isolated using phenol chloroform method and were analysed for the related single nucleotide polymorphism by restriction digestion using appropriate restriction enzymes after amplification by PCR. Differences in allele frequencies between two groups were estimated by chi square and odds ratio test. Any potential association between the vitamin D anti TPO antibody and thyroid hormone status with polymorphic variations were assessed by post hoc ANOVA among the three genotypes. The distribution of FF genotype was significantly higher among the case group (Χ²=10.2788, p=0.006). The odds ratio for the allele F was significantly higher in case group for a range of 1.97 to 5.94 for 95 percent confidence interval (Χ²=13.9678, p=<0.001). The genotype FF group had significantly lowest Vitamin D (p=0.008) and highest Anti TPO ab (p=0.031) compared to Ff and ff genotypes. Thus, significant association was revealed between the VDR gene Fok1(rs2228570) polymorphism and autoimmune thyroiditis with the predominance of FF genotype being a strong susceptibility factor for autoimmune thyroiditis and Vitamin D deficiency in the studied population of Eastern India.