title: The variations of IL-23R are associated with susceptibility and severe clinical forms of pulmonary tuberculosis in Chinese Uygurs.
abstract: 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.
authors.affiliation: Department of Pulmonology, The First Affiliated Hospital of Xinjiang Medical University, Urumqi, China. fangxueer1027@163.com.|Department of Pulmonology, Xinjiang Uygur Autonomous Region Hospital of Traditional Chinese Medicine, Urumqi, Xinjiang, 830054, China. fangxueer1027@163.com.|Xinjiang Uygur Autonomous Region Respiratory Physiology Pathology Key Laboratory, Urumqi, Xinjiang, 830054, China. fangxueer1027@163.com.
authors.forename: Daobin
authors.initials: D
authors.lastname: Jiang
authors.affiliation: Department of Pulmonology, The First Affiliated Hospital of Xinjiang Medical University, Urumqi, China. 492242282@qq.com.
authors.forename: Atikaimu
authors.initials: A
authors.lastname: Wubuli
authors.affiliation: Department of Pulmonology, The First Affiliated Hospital of Xinjiang Medical University, Urumqi, China. 147951422@qq.com.
authors.forename: Xin
authors.initials: X
authors.lastname: Hu
authors.affiliation: Department of Pulmonology, The First Affiliated Hospital of Xinjiang Medical University, Urumqi, China. dr.ikram96@yahoo.com.
authors.forename: Syed
authors.initials: S
authors.lastname: Ikramullah
authors.affiliation: Department of Pulmonology, The First Affiliated Hospital of Xinjiang Medical University, Urumqi, China. 276576643@qq.com.
authors.forename: Abudoujilili
authors.initials: A
authors.lastname: Maimaiti
authors.affiliation: Clinical Medical Research Institute, The First Affiliated Hospital of Xinjiang Medical University, Urumqi, Xinjiang, 830054, China. wenbaozhang2013@163.com.
authors.forename: Wenbao
authors.initials: W
authors.lastname: Zhang
authors.affiliation: Department of Pulmonology, The First Affiliated Hospital of Xinjiang Medical University, Urumqi, China. qimenw@hotmail.com.
authors.forename: Qimanguli
authors.initials: Q
authors.lastname: Wushouer
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D002681:China / Q000208:ethnology; D056915:DNA Copy Number Variations; D005006:Ethnicity; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D060888:Real-Time Polymerase Chain Reaction; D018123:Receptors, Interleukin / Q000235:genetics*; D012307:Risk Factors; D014397:Tuberculosis, Pulmonary / Q000453:epidemiology / Q000209:etiology / Q000235:genetics*; D055815:Young Adult
chemical_list: C515500:IL23R protein, human; D018123:Receptors, Interleukin