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

• Main Authors: 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
• Format: Article
• Language: English
• Published: BMC 2012-04-01
• Series: BMC Infectious Diseases
• Subjects: <it>NOD2</it>; Arg587Arg SNP; Tuberculosis; Chinese Han; Uyghur; Kazak
• Online Access: http://www.biomedcentral.com/1471-2334/12/91

<p>Abstract</p> <p>Background</p> <p>The present study aimed to investigate the genetic polymorphisms in exon 4 of the <it>NOD2 </it>gene in tuberculosis patients and healthy controls, in order to clarify whether polymorphisms in the <it>NOD2 </it>gene is associated with tuberculosis.</p> <p>Methods</p> <p>A case-control study was performed on the Chinese Han, Uygur and Kazak populations. Exon 4 of the <it>NOD2 </it>gene was sequenced in 425 TB patients and 380 healthy controls to identify SNPs.</p> <p>Results</p> <p>The frequency of T/G genotypes for the Arg587Arg (CGT → CGG) single nucleotide polymorphism (SNP) in <it>NOD2 </it>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 (<it>P </it>> 0.05) whereas, a significant difference was observed in the Arg587Arg polymorphism between the tuberculosis patients and healthy controls in the Han population (<it>P </it>< 0.01). The odd ratio of 2.16 (95% CI = 1.31-3.58; <it>P </it>< 0.01) indicated that the Arg587Arg SNP in <it>NOD2 </it>may be associated with susceptibility to tuberculosis in the Chinese Han population.</p> <p>Conclusions</p> <p>Our study is the first to demonstrate that the Arg587Arg SNP in <it>NOD2 </it>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.</p>