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Background  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.    Methods  A 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.    Results  The 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.    Conclusions  Our 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 material  The online version of this article (doi:10.1186/s12879-015-1284-2) contains supplementary material, which is available to authorized users.

The variations of IL-23R are associated with susceptibility and severe clinical forms of pulmonary tuberculosis in Chinese Uygurs