Vitamin D receptor gene associations with pulmonary tuberculosis in a Tibetan Chinese population.

Qunying Hu,Guinian Liang,Yuhe Wang,Zhengshuai Chen,Hengxun Zhang,Shilin Xu,Longli Kang,Tianbo Jin,Fangping Mo

doi:10.1186/s12879-016-1699-4

Abstract

BackgroundThe 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.MethodsThis 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.ResultsOur 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.ConclusionsThe 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.

Highlights

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
We evaluated the roles of VDR gene polymorphisms and haplotypes on Pulmonary tuberculosis (PTB) susceptibility by conducting an extensive association analysis of a case– control study in a Tibetan Chinese population
It listed the minor allele frequency (MAF) of cases and controls, we found there existed a correlation between three loci and PTB based on Chi-square tests

Summary

Introduction

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. Susceptibility to disease upon M. tuberculosis infection is influenced by the agent, environmental and host genetic factors [1]. The fact that only 10 % of those infected with M. tuberculosis progress to clinical disease revealed that genetic factors, as well as environmental factors are involved in the pathophysiology of PTB [4]. Many studies have shown that genetic factors play important roles in PTB disease development, and vitamin D receptor (VDR) gene has recently been found to be interesting candidate genes

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