The Variations of IL-23R Are Associated with Susceptibility & Severe Clinical Forms of Pulmonary Tuberculosis in Chinese Uygurs

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-23Rwere 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.

Below:  Linkage Disequilibrium Plot of SNPs of IL-23R in the control group. Linkage disequilibrium (LD) blocks in the IL23R polymorphisms black squares indicate significant allelic association between groups of SNPs from the control subjects measured by the D' (left panels) and r 2 (right panels) statistics. A D' or r 2 cutoff of 0.8 is used for LD. High D' values are dark, low D' values are light

Below:  Copy number frequencies distribution of IL-23R between controls and pulmonary TB patients

Full article at:  http://goo.gl/OMqbqd

By:  Daobin Jiang¹²³, Atikaimu Wubuli¹, Xin Hu¹, Syed Ikramullah¹, Abudoujilili Maimaiti¹,Wenbao Zhang^4* and Qimanguli Wushouer^1*

¹Department of Pulmonology, The First Affiliated Hospital of Xinjiang Medical University, Urumqi, China

²Department of Pulmonology, Xinjiang Uygur Autonomous Region Hospital of Traditional Chinese Medicine, Urumqi 830054, Xinjiang, China

³Xinjiang Uygur Autonomous Region Respiratory Physiology Pathology Key Laboratory, Urumqi 830054, Xinjiang, China

⁴Clinical Medical Research Institute, The First Affiliated Hospital of Xinjiang Medical University, Urumqi 830054, Xinjiang, China

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