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Volume 49, Number 5, October 2016

VDR and VDBP genes polymorphisms associated with susceptibility to tuberculosis in a Han Taiwanese population 

Shih-Wei Lee, Tzu-Yi Chuang, Hsiu-Han Huang, Chi-Wei Liu, Yung-Hsi Kao, Lawrence Shih-Hsin Wu


Corresponding author:

Corresponding author. Lawrence Shih-Hsin Wu, Institute of Medical Sciences, Tzu Chi University, 701 Zhongyang Road, Section 3, Hualien, 97004, Taiwan. 


Background and purpose: 

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. 



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. 



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. 



The polymorphisms in the VDR and VDBP genes appeared to be responsible for host susceptibility to human TB in a Taiwanese population. 


Key words:

polymorphism, tuberculosis, VDBP, VDR