Abstract
BackgroundThe incidence of tuberculosis (TB) remains high among Chinese Uygurs (a long-dwelling ethnic minority in Xinjiang) in China and the variants in IL-23R likely contribute to individual’s diversity in host response during infection.MethodsA hospital based one to one matched case–control study was performed to assess the role of single nucleotide polymorphisms (SNPs) and copy number variation (CNV) of IL-23R in susceptibility and clinical features of pulmonary TB in Chinese Uygurs. Thirteen SNPs in IL-23R were genotyped by multiplex SNaPshot and a CNV was analyzed using Taqman real-time PCR in 250 pairs of pulmonary TB patients and controls.ResultsThe SNP rs7518660 (OR = 4.78, 95 % CI 3.14–8.52) and the CNV in IL23R (OR = 2.75, 95 % CI 1.51–4.98) were significantly associated with susceptibility to pulmonary TB. The SNP rs11465802 (OR = 3.23, 95 % CI 1.85–5.62) was significantly associated with drug-resistance and the SNP rs1884444 (OR = 3.61, 95 % CI 1.90–6.85) was significantly related to cavitary lesion in Chinese Uygurs.ConclusionsOur study shows for the first time that SNP and CNV in IL23R were associated with susceptibility, drug resistance and cavity formation of pulmonary TB. Our findings indicate that these IL-23R polymorphisms may be considered as risk factors for active pulmonary TB and its severe clinical forms.Electronic supplementary materialThe online version of this article (doi:10.1186/s12879-015-1284-2) contains supplementary material, which is available to authorized users.
Highlights
The incidence of tuberculosis (TB) remains high among Chinese Uygurs in China and the variants in IL-23R likely contribute to individual’s diversity in host response during infection
In the present study, we found that the single nucleotide polymorphisms (SNPs) rs7518660 and the copy number variation (CNV) in exon 11 of IL-23R were significantly associated with susceptibility to active pulmonary TB, we observed that rs11465802 was associated with drug-resistance and rs1884444 was related to cavity formation in Chinese Uygurs in China
We found the SNP rs7518660 in IL-23R were associated with pulmonary TB in the Chinese Uygurs
Summary
The incidence of tuberculosis (TB) remains high among Chinese Uygurs (a long-dwelling ethnic minority in Xinjiang) in China and the variants in IL-23R likely contribute to individual’s diversity in host response during infection. The essential role of human genetic factors in susceptibility to TB has been confirmed by twin studies [5], IL-23, a member of the IL-12 cytokine family, is a key proinflammatory cytokine in innate and adaptive immune systems. This cytokine plays a pivotal role in the differentiation of the native CD4+ T cells into Th17 [11].
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