Zhao Lan, Chu Haiqing, Xu Xiaogang, Yue Jun, Li Huiping, Wang Minggui
Institute of Antibiotics, Huashan Hospital, Fudan University, 12 M. Wulumuqi Road, Shanghai, 200040, China.
Cell Biochem Biophys. 2014 Apr;68(3):529-34. doi: 10.1007/s12013-013-9733-2.
The cytokine-inducible SRC homology 2 domain (CISH) gene is up-regulated by IL-2 in response to infection, and inhibits microbial infection. The objective of the present study was to examine whether genetic variants of CISH (SNPs) are associated with increased susceptibility to tuberculosis (TB) in individuals of Chinese Han ethnicity. We sequenced five previously identified SNPs of CISH in patients with TB or healthy controls. Three of the SNPs, rs148685070 [position -639; C/C], rs414171 [position -292; A/T], and rs6768300 [position -163; C/G]) are located in the promoter region, while the fourth (rs2239751 [position +1320; A/C]) near the translation start site, and the fifth (rs622502 [position +3415; C/G]) in the third intron. The AA genotypes of the SNPs rs2239751 and rs414171 were significantly associated with TB. Multivariate logistic regression analysis demonstrated that subjects with the rs414171 AA genotype were more likely to have TB than those with the AT genotype. By contrast, we did not observe genetic variants of the rs148685070 SNP. In conclusion, two genetic variants in CISH gene appear to increase susceptibility to TB in Chinese Han population.
细胞因子诱导的Src同源2结构域（CISH）基因在感染时会被白细胞介素-2上调，并抑制微生物感染。本研究的目的是检测CISH基因的遗传变异（单核苷酸多态性，SNPs）是否与中国汉族个体患结核病（TB）的易感性增加相关。我们对结核病患者或健康对照者中先前鉴定出的CISH基因的5个SNPs进行了测序。其中3个SNPs，rs148685070 [位置-639；C/C]、rs414171 [位置-292；A/T]和rs6768300 [位置-163；C/G]位于启动子区域，第4个（rs2239751 [位置+1320；A/C]）靠近翻译起始位点，第5个（rs622502 [位置+3415；C/G]）位于第3内含子。rs2239751和rs414171这两个SNPs的AA基因型与结核病显著相关。多因素逻辑回归分析表明，rs414171 AA基因型的受试者比AT基因型的受试者更易患结核病。相比之下，我们未观察到rs148685070 SNP的遗传变异。总之，CISH基因中的两个遗传变异似乎会增加中国汉族人群患结核病的易感性。
