Vitamin D receptor gene associations with pulmonary tuberculosis in a Tibetan Chinese population.
The vitamin D receptor (VDR) mediates the immunological function of vitamin D3, which activates macrophages, and vitamin D deficiency has been linked to tuberculosis risk. Single nucleotide polymorphisms (SNPs) in VDR may influence the function of vitamin D and susceptibility to tuberculosis.



This study included 217 patients with pulmonary tuberculosis (PTB) and 383 healthy subjects in a Tibetan Chinese population living in and near Xi'an. Association analyses of SNPs in VDR were performed with the SPSS 17.0 statistical packages, SNP stats software, Haploview software package (version 4.2), and the SHEsis software platform.



Our results revealed a correlation between three SNPs (rs11574143, odds ratio [OR]: 1.47, 95 % confidence interval [CI]: 1.11 - 1.94, p = 0.006, p-adjust = 0.030; rs11574079, OR: 0.48, 95 % CI: 0.25 - 0.92, p = 0.023, p-adjust = 0.115; rs11168287, OR: 2.55, 95 % CI: 2.00 - 3.25, p = 1.730E-14, p-adjust = 0.865E-13) and PTB based on Chi-square tests. We observed the allele "A" of rs11574143 and rs11168287 increased the PTB risk and the allele "A" of rs11574079 provided a protective effect against PTB.



The goal of this study was the identification of putative associations between five SNPs (rs11574143, rs7975232, rs11574079, rs3819545 and rs11168287) in VDR and susceptibility to PTB. Our findings demonstrated associations between VDR polymorphisms and PTB development.
Key Laboratory for Basic Life Science Research of Tibet Autonomous Region, School of Medicine, Xizang Minzu University, Xianyang, Shaanxi, 712082, China.|Key Laboratory for Molecular Genetic Mechanisms and Intervention Research on High Altitude Disease of Tibet Autonomous Region, School of Medicine, Xizang Minzu University, Xianyang, Shaanxi, 712082, China.|Key Laboratory of High Altitude Environment and Genes Related to Diseases of Tibet Autonomous Region, School of Medicine, Xizang Minzu University, Xianyang, Shaanxi, 712082, China.
Qunying
Q
Hu
School of Life Sciences, Northwest University, Xi'an, Shaanxi, 710069, China.|National Engineering Research Center for Miniaturized Detection Systems, Xi'an, Shaanxi, 710069, China.
Zhengshuai
Z
Chen
Affiliated Hospital of Xizang Minzu University, Xianyang, Shaanxi, 712082, China.
Guinian
G
Liang
Affiliated Hospital of Xizang Minzu University, Xianyang, Shaanxi, 712082, China.
Fangping
F
Mo
Affiliated Hospital of Xizang Minzu University, Xianyang, Shaanxi, 712082, China.
Hengxun
H
Zhang
Affiliated Hospital of Xizang Minzu University, Xianyang, Shaanxi, 712082, China.
Shilin
S
Xu
Affiliated Hospital of Xizang Minzu University, Xianyang, Shaanxi, 712082, China.
Yuhe
Y
Wang
Key Laboratory for Basic Life Science Research of Tibet Autonomous Region, School of Medicine, Xizang Minzu University, Xianyang, Shaanxi, 712082, China. klongli@163.com.|Key Laboratory for Molecular Genetic Mechanisms and Intervention Research on High Altitude Disease of Tibet Autonomous Region, School of Medicine, Xizang Minzu University, Xianyang, Shaanxi, 712082, China. klongli@163.com.|Key Laboratory of High Altitude Environment and Genes Related to Diseases of Tibet Autonomous Region, School of Medicine, Xizang Minzu University, Xianyang, Shaanxi, 712082, China. klongli@163.com.
Longli
L
Kang
Key Laboratory for Basic Life Science Research of Tibet Autonomous Region, School of Medicine, Xizang Minzu University, Xianyang, Shaanxi, 712082, China. jtianbo@126.com.|Key Laboratory for Molecular Genetic Mechanisms and Intervention Research on High Altitude Disease of Tibet Autonomous Region, School of Medicine, Xizang Minzu University, Xianyang, Shaanxi, 712082, China. jtianbo@126.com.|Key Laboratory of High Altitude Environment and Genes Related to Diseases of Tibet Autonomous Region, School of Medicine, Xizang Minzu University, Xianyang, Shaanxi, 712082, China. jtianbo@126.com.|School of Life Sciences, Northwest University, Xi'an, Shaanxi, 710069, China. jtianbo@126.com.|National Engineering Research Center for Miniaturized Detection Systems, Xi'an, Shaanxi, 710069, China. jtianbo@126.com.
Tianbo
T
Jin
D000328:Adult; D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D002681:China / Q000453:epidemiology; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D018167:Receptors, Calcitriol / Q000235:genetics*; D018609:Tibet / Q000208:ethnology; D014397:Tuberculosis, Pulmonary / Q000453:epidemiology* / Q000235:genetics
D018167:Receptors, Calcitriol; C579457:VDR protein, human
PTB; SNP; Tibetan Chinese population; VDR