Lin Wei-Yong, Wan Lei, Tsai Chang-Hai, Chen Rong-Hsing, Lee Cheng-Chun, Tsai Fuu-Jen
Department of Life Science, National Tsing Hua University, Hsinchu, Taiwan.
J Clin Lab Anal. 2006;20(3):109-12. doi: 10.1002/jcla.20110.
The etiology of the autoimmune thyroid, Hashimoto's thyroiditis (HT) is not very clear. However, genetic susceptibility is thought to play a critical role. The vitamin D receptor (VDR)-related endocrine system has been demonstrated to be able to carry out modulation of the immune response. Here, we investigated whether single nucleotide polymorphisms (SNPs) of VDR are associated with HT patients. VDR SNP was detected by polymerase chain reaction (PCR)-based restriction analysis in 109 patients with HT and 90 normal controls. Significant differences were found in the genotype distribution of VDR SNP between Hashimoto's thyroiditis patients and controls (P=0.0458). Allelic frequency of the VDR gene distinguished HT patients from controls (P=0.0089). The results revealed a significant difference between HT patients and normal controls in VDR SNP and a statistic correlation between VDR-FokI polymorphisms and HT formation. It could be concluded that patients who carry the C/C homozygote of the VDR-FokI gene polymorphism in exon 2 may have a higher risk of developing HT in Chinese patients in Taiwan.
自身免疫性甲状腺疾病——桥本甲状腺炎（HT）的病因尚不完全清楚。然而，遗传易感性被认为起着关键作用。维生素D受体（VDR）相关内分泌系统已被证明能够调节免疫反应。在此，我们研究了VDR的单核苷酸多态性（SNP）是否与HT患者相关。采用基于聚合酶链反应（PCR）的限制性分析方法，对109例HT患者和90例正常对照者进行VDR SNP检测。桥本甲状腺炎患者与对照者之间VDR SNP的基因型分布存在显著差异（P = 0.0458）。VDR基因的等位基因频率可区分HT患者与对照者（P = 0.0089）。结果显示，HT患者与正常对照者在VDR SNP方面存在显著差异，且VDR - FokI多态性与HT形成之间存在统计学相关性。可以得出结论，在台湾地区的中国患者中，携带外显子2中VDR - FokI基因多态性C/C纯合子的患者患HT的风险可能更高。
