Institute of Cell Biology, Zhejiang University, 866 Yuhangtang Road, Hangzhou 310058, China.
BMC Infect Dis. 2012 Apr 14;12:91. doi: 10.1186/1471-2334-12-91.
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.
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.
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.
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.
本研究旨在探讨结核分枝杆菌患者和健康对照者 NOD2 基因外显子 4 的遗传多态性，以阐明 NOD2 基因多态性是否与结核病相关。
采用病例对照研究，对中国汉族、维吾尔族和哈萨克族人群进行研究。对 425 例结核病患者和 380 例健康对照者的 NOD2 基因外显子 4 进行测序，以鉴定 SNP。
NOD2 基因 Arg587Arg（CGT→CGG）单核苷酸多态性（SNP）的 T/G 基因型频率在维吾尔族（34.9%）和哈萨克族（37.1%）中明显高于汉族（18.6%）。此外，Arg587Arg SNP 的 G/G 基因型频率在维吾尔族（8.3%）和哈萨克族（5.4%）中明显高于汉族（0.9%）。同时，维吾尔族和哈萨克族结核病患者与健康对照者的 Arg587Arg 多态性无显著差异（P＞0.05），而汉族结核病患者与健康对照者的 Arg587Arg 多态性有显著差异（P＜0.01）。2.16（95%CI=1.31-3.58；P＜0.01）的比值比表明，NOD2 中的 Arg587Arg SNP 可能与汉族人群结核病易感性相关。
本研究首次表明，NOD2 中的 Arg587Arg SNP 是中国汉族人群结核病的一个新的可能危险因素，但不是维吾尔族和哈萨克族人群结核病的危险因素。我们的结果可能反映了不同种族对结核病遗传易感性的差异。
