维生素 D 受体和维生素 D 结合蛋白基因多态性与汉族台湾人群结核病易感性的关联。
VDR and VDBP genes polymorphisms associated with susceptibility to tuberculosis in a Han Taiwanese population.
机构信息
Chest Medicine Department of Internal Medicine, Taoyuan General Hospital, Taoyuan, Taiwan; Department of Life Sciences, National Central University, Taoyuan, Taiwan.
Chest Medicine Department of Internal Medicine, Taoyuan General Hospital, Taoyuan, Taiwan.
出版信息
J Microbiol Immunol Infect. 2016 Oct;49(5):783-787. doi: 10.1016/j.jmii.2015.12.008. Epub 2016 Jan 12.
BACKGROUND
The active metabolite (1, 25-dihydroxycholecalciferol) of vitamin D (25-hydroxycholecalciferol) leads to the activation of macrophages and the deficiency of vitamin D seems to be involved in the risk of tuberculosis (TB). The effects of vitamin D are exerted by interaction with the vitamin D receptor (VDR) and vitamin D receptor binding protein (VDBP) may be influenced by polymorphisms in the VDR and VDBP genes. In this study, variation in the VDR and VDBP genes was investigated in a Taiwanese population with TB.
METHODS
We typed four VDR polymorphisms of restriction endonuclease sites for ApaI, TaqI, BsmI, and FokI and three VDBP polymorphisms-Thr420Lys, Asp416Glu, and Cys299Cys-in 198 patients with TB and 170 healthy volunteers.
RESULTS
VDR TaqI, VDR BsmI, and VDBP Asp416Glu were significantly associated with TB susceptibility. Odd ratios of risk genotypes of the above three polymorphisms were 2.16 (95% confidence interval 1.01, 4.65), 2.14 (95% confidence interval 1.06, 4.31), and 2.24 (95% confidence interval 1.04, 4.80), respectively. VDBP haplotype analysis showed Gc1f carriers associated to TB.
CONCLUSION
The polymorphisms in the VDR and VDBP genes appeared to be responsible for host susceptibility to human TB in a Taiwanese population.
背景
维生素 D 的活性代谢物（1,25-二羟胆钙化醇）可激活巨噬细胞，而维生素 D 缺乏似乎与结核病（TB）的风险有关。维生素 D 的作用是通过与维生素 D 受体（VDR）和维生素 D 受体结合蛋白（VDBP）相互作用发挥的，而 VDR 和 VDBP 基因的多态性可能会影响维生素 D 受体结合蛋白的功能。在这项研究中，我们研究了台湾 TB 患者的 VDR 和 VDBP 基因变异情况。
方法
我们对 198 例 TB 患者和 170 名健康志愿者的 VDR 四个限制内切酶位点的多态性（ApaI、TaqI、BsmI 和 FokI）和 VDBP 三个多态性（Thr420Lys、Asp416Glu 和 Cys299Cys）进行了基因分型。
结果
VDR TaqI、VDR BsmI 和 VDBP Asp416Glu 与 TB 易感性显著相关。上述三个多态性的风险基因型的比值比分别为 2.16（95%置信区间 1.01,4.65）、2.14（95%置信区间 1.06,4.31）和 2.24（95%置信区间 1.04,4.80）。VDBP 单体型分析显示 Gc1f 携带者与 TB 相关。
结论
VDR 和 VDBP 基因的多态性可能导致台湾人群对人类 TB 的易感性。
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