title: A novel single nucleotide polymorphism within the NOD2 gene is associated with pulmonary tuberculosis in the Chinese Han, Uygur and Kazak populations.
abstract: BACKGROUND
  The present study aimed to investigate the genetic polymorphisms in exon 4 of the NOD2 gene in tuberculosis patients and healthy controls, in order to clarify whether polymorphisms in the NOD2 gene is associated with tuberculosis.
  
  
  METHODS
  A case-control study was performed on the Chinese Han, Uygur and Kazak populations. Exon 4 of the NOD2 gene was sequenced in 425 TB patients and 380 healthy controls to identify SNPs.
  
  
  RESULTS
  The frequency of T/G genotypes for the Arg587Arg (CGT → CGG) single nucleotide polymorphism (SNP) in NOD2 was found to be significantly higher in the Uygur (34.9%) and Kazak (37.1%) populations than the Han population (18.6%). Also, the frequency of G/G genotypes for the Arg587Arg SNP was significantly higher in the Uyghur (8.3%) and Kazak (5.4%) populations than the Han population (0.9%). Meanwhile, no significant difference was found in the Arg587Arg polymorphism between the tuberculosis patients and healthy controls in the Uyghur and Kazak populations (P > 0.05) whereas, a significant difference was observed in the Arg587Arg polymorphism between the tuberculosis patients and healthy controls in the Han population (P < 0.01). The odd ratio of 2.16 (95% CI = 1.31-3.58; P < 0.01) indicated that the Arg587Arg SNP in NOD2 may be associated with susceptibility to tuberculosis in the Chinese Han population.
  
  
  CONCLUSIONS
  Our study is the first to demonstrate that the Arg587Arg SNP in NOD2 is a new possible risk factor for tuberculosis in the Chinese Han population, but not in the Uyghur and Kazak populations. Our results may reflect racial differences in genetic susceptibility to tuberculosis.
authors.affiliation: Institute of Cell Biology, Zhejiang University, 866 Yuhangtang Road, Hangzhou 310058, China.
authors.forename: Mengyuan
authors.initials: M
authors.lastname: Zhao
authors.forename: Feng
authors.initials: F
authors.lastname: Jiang
authors.forename: Wanjiang
authors.initials: W
authors.lastname: Zhang
authors.forename: Fujian
authors.initials: F
authors.lastname: Li
authors.forename: Liliang
authors.initials: L
authors.lastname: Wei
authors.forename: Jiyan
authors.initials: J
authors.lastname: Liu
authors.forename: Yun
authors.initials: Y
authors.lastname: Xue
authors.forename: Xiling
authors.initials: X
authors.lastname: Deng
authors.forename: Fang
authors.initials: F
authors.lastname: Wu
authors.forename: Le
authors.initials: L
authors.lastname: Zhang
authors.forename: Xing
authors.initials: X
authors.lastname: Zhang
authors.forename: Yuxiang
authors.initials: Y
authors.lastname: Zhang
authors.forename: Dapeng
authors.initials: D
authors.lastname: Fan
authors.forename: Xiaojun
authors.initials: X
authors.lastname: Sun
authors.forename: Tingting
authors.initials: T
authors.lastname: Jiang
authors.forename: Ji-Cheng
authors.initials: JC
authors.lastname: Li
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D016022:Case-Control Studies; D002681:China; D005006:Ethnicity; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D053473:Nod2 Signaling Adaptor Protein / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D017422:Sequence Analysis, DNA; D014397:Tuberculosis, Pulmonary / Q000208:ethnology / Q000235:genetics*; D055815:Young Adult
chemical_list: C429018:NOD2 protein, human; D053473:Nod2 Signaling Adaptor Protein