BMC Infectious Diseases (Apr 2012)

A novel single nucleotide polymorphism within the <it>NOD2 </it>gene is associated with pulmonary tuberculosis in the Chinese Han, Uygur and Kazak populations

  • Zhao Mengyuan,
  • Jiang Feng,
  • Zhang Wanjiang,
  • Li Fujian,
  • Wei Liliang,
  • Liu Jiyan,
  • Xue Yun,
  • Deng Xiling,
  • Wu Fang,
  • Zhang Le,
  • Zhang Xing,
  • Zhang Yuxiang,
  • Fan Dapeng,
  • Sun Xiaojun,
  • Jiang Tingting,
  • Li Ji-Cheng

DOI
https://doi.org/10.1186/1471-2334-12-91
Journal volume & issue
Vol. 12, no. 1
p. 91

Abstract

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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 P 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.

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