Department of Laboratory medicine, Affiliated Brain Hospital of Nanjing Medical University (Chest Branch), Nanjing, China.
Department of Laboratory Medicine, West China Hospital, Sichuan University, Chengdu, China.
J Clin Lab Anal. 2020 Jun;34(6):e23234. doi: 10.1002/jcla.23234. Epub 2020 Feb 7.
Tuberculosis remains an important disease threatening the security of public health, and no effective targets have been found for the immunological diagnosis or therapy of tuberculosis. The aim of this study was to explore the associations between lncRNA CASC8 genetic polymorphism and tuberculosis risk.
A total of 900 tuberculosis patients and 1534 healthy individuals in the Western Chinese Han population were recruited for our study. Candidate SNPs of CASC8 were initially filtered by importing the 1000 genomes database into Haploview, and subsequently genotyped using modified multiplex ligation detection reactions.
The lncRNA CASC8 genetic variant rs7836840 was associated with an increased tuberculosis risk with a P-value of .034, but .134 after Bonferroni correction. Using subtype analysis, the C allele in rs7836840 showed a significant association with tuberculosis susceptibility (OR = 1.196, 95% CI = 1.05-1.362, P = .02739 after Bonferroni correction). Patients carrying genotype AG and GG of rs7825118 and rs9297758 exhibited lower Hb concentrations (P = .006) and neutrophil counts (P = .015), respectively, while genotype AG and AA in rs6981424 demonstrated higher levels of ALT (P = .005) and AST (P = .033) in a dominant model, which were consistent with a tendency toward increased TB risk.
This study was the first to explore the association between lncRNA CASC8 polymorphisms and TB infection risk and clinical manifestations. Our results provide evidence that CASC8 may act as a biomarker for the progression of clinical tuberculosis.
结核病仍然是威胁公众健康的重要疾病，目前尚未发现针对结核病的免疫诊断或治疗的有效靶点。本研究旨在探讨 lncRNA CASC8 遗传多态性与结核病风险之间的关联。
本研究纳入了中国西部汉族人群中的 900 例结核病患者和 1534 例健康对照者。首先通过将 1000 基因组数据库导入 Haploview 来筛选 CASC8 的候选 SNP，然后使用改良多重连接检测反应进行基因分型。
lncRNA CASC8 遗传变异 rs7836840 与结核病风险增加相关，P 值为.034，但经 Bonferroni 校正后为.134。通过亚组分析，rs7836840 的 C 等位基因与结核病易感性显著相关（OR=1.196，95%CI=1.05-1.362，P=.02739，经 Bonferroni 校正后）。携带 rs7825118 和 rs9297758 的基因型 AG 和 GG 的患者的 Hb 浓度（P=.006）和中性粒细胞计数（P=.015）较低，而在 rs6981424 的基因型 AG 和 AA 中，ALT（P=.005）和 AST（P=.033）在显性模型中的水平较高，这与结核病风险增加的趋势一致。
本研究首次探讨了 lncRNA CASC8 多态性与 TB 感染风险和临床表现之间的关联。我们的结果表明，CASC8 可能作为临床结核病进展的生物标志物。
