Soft tissue sarcomas (STS) are rare malignant tumors of mesenchymal origin, which are easy to metastasize and relapse and are a great threat to human health. In our previous study, the abnormal expression of neurofibromin 1 (NF1) is observed in tumor tissue of STS, and the NF1 gene is regulated by miRNAs. The study aimed to assess the association between NF1-related miRNA gene polymorphisms and the risk of STS. In this case-control study, the information and peripheral blood were collected from 169 patients with STS and 170 healthy controls. Six single-nucleotide polymorphisms of the NF1-related miRNAs were investigated and genotyped using a Sequenom MassARRAY® matrix-assisted laser desorption/ionization time-of-flight mass spectrometry platform. The association between the polymorphisms and the risk of STS was estimated using unconditional logistic regression analysis. There was a significant statistical difference on genotype distribution of miR-199a2 rs12139213 between the case group and the control group (p = 0.026). Comparing with individuals with wild-type AA, individuals with the AT/TT genotype had a 1.753-fold (odds ratio [OR] = 1.753, 95% confidence interval [CI] = 1.090-2.819, p = 0.021) increased risk of STS and 1.907-fold (OR = 1.907, 95% CI = 1.173-3.102, p = 0.009) increased risk of STS adjusted for age and smoking status. Individuals with the AG/GG genotype for miR24-3p rs4743988 displayed a significantly reduced risk of STS compared with individuals with homozygous mutations AA (OR = 0.605, 95% CI = 0.376-0.973, p = 0.038). Individuals carrying the AT/TT genotype for miR-199a2 rs12139213 or the AA genotype for miR24-3p rs4743988 may be susceptible to STS, which could be potential biomarkers for the diagnosis of STS.

中文翻译：

---

NF1 相关的 MicroRNA 基因多态性和软组织肉瘤的易感性：病例对照研究。

软组织肉瘤（STS）是罕见的间质来源的恶性肿瘤，易于转移和复发，对人类健康构成极大威胁。在我们前期的研究中，在STS的肿瘤组织中观察到神经纤维蛋白1（NF1）的异常表达，并且NF1基因受到miRNA的调控。该研究旨在评估 NF1 相关 miRNA 基因多态性与 STS 风险之间的关联。在这项病例对照研究中，收集了 169 名 STS 患者和 170 名健康对照者的信息和外周血。使用 Sequenom MassARRAY® 基质辅助激光解吸/电离飞行时间质谱平台对 NF1 相关 miRNA 的 6 个单核苷酸多态性进行了研究和基因分型。使用非条件逻辑回归分析估计多态性与 STS 风险之间的关联。病例组与对照组miR-199a2 rs12139213基因型分布差异有统计学意义（p=0.026）。与野生型 AA 个体相比，AT/TT 基因型个体的 STS 风险增加 1.753 倍（优势比 [OR] = 1.753，95% 置信区间 [CI] = 1.090-2.819，p = 0.021）根据年龄和吸烟状况调整后，STS 风险增加 1.907 倍（OR = 1.907，95% CI = 1.173-3.102，p = 0.009）。与具有纯合突变 AA 的个体相比，具有 miR24-3p rs4743988 AG/GG 基因型的个体表现出 STS 风险显着降低（OR = 0.605，95% CI = 0.376-0.973，p = 0.038）。携带 miR-199a2 rs12139213 AT/TT 基因型或 miR24-3p rs4743988 AA 基因型的个体可能对 STS 敏感，这可能是诊断 STS 的潜在生物标志物。