Department of Respiratory and Critical Care Medicine, West China Hospital, Sichuan University, Chengdu, Sichuan, China.
Department of Respiratory and Critical Care Medicine, West China Hospital, Sichuan University, Chengdu, Sichuan, China.
Microb Pathog. 2019 Mar;128:288-293. doi: 10.1016/j.micpath.2019.01.024. Epub 2019 Jan 17.
The signal transducer and activator of transcription 4 (STAT4) gene encodes a transcription factor that transmits signals induced by several cytokines which play critical roles in the development of autoimmune and chronic inflammatory diseases. We performed an association study between STAT4 single nucleotide polymorphisms (SNPs) and tuberculosis (TB). 624 TB cases and 598 healthy controls were studied to compare allele/genotype frequencies of 4 SNPs in STAT4. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated using logistic regression. Genotyping was performed with the Sequenom MassARRAY SNP genotyping platform. Out of 4 SNPs tested in the study, rs4853542 allele A showed a 25% decreased risk of TB compared with allele G (P = 0.013, OR = 0.75, 95%CI: 0.60-0.94). However, it did not show significant differences under any genetic model after Bonferroni correction. No association was found for the other 3 SNPs with TB. In subgroup analyses, the protective effects of rs485342 allele A were stronger among younger subjects <25 years (P = 0.002, OR = 0.49, 95%CI: 0.31-0.76). Allele A of the rs4853542 polymorphism in STAT4 is not associated with TB susceptibility, but we demonstrated that rs4853542A allele decreased risk of TB in younger adults after Bonferroni correction.
信号转导子和转录激活子 4（STAT4）基因编码一种转录因子，可传递几种细胞因子诱导的信号，这些细胞因子在自身免疫和慢性炎症性疾病的发展中起着关键作用。我们进行了 STAT4 单核苷酸多态性（SNP）与结核病（TB）的关联研究。比较了 STAT4 中 4 个 SNP 的等位基因/基因型频率，共纳入 624 例 TB 病例和 598 例健康对照。采用 logistic 回归计算比值比（OR）和 95%置信区间（CI）。采用Sequenom MassARRAY SNP 基因分型平台进行基因分型。在研究中检测的 4 个 SNP 中，与等位基因 G 相比，等位基因 A 显示出 25%的 TB 风险降低（P=0.013，OR=0.75，95%CI：0.60-0.94）。然而，在经过 Bonferroni 校正后，任何遗传模型下均未显示出显著差异。其他 3 个 SNP 与 TB 无关联。亚组分析显示，在年龄<25 岁的年轻人群中，rs485342 等位基因 A 的保护作用更强（P=0.002，OR=0.49，95%CI：0.31-0.76）。STAT4 中 rs4853542 多态性的等位基因 A 与 TB 易感性无关，但经 Bonferroni 校正后，我们证明 rs4853542A 等位基因降低了年轻成年人患 TB 的风险。
