软组织肉瘤（STS）是起源于中胚层的罕见恶性肿瘤，易于转移和复发，对人类健康构成巨大威胁。在我们的先前研究中，发现神经纤维瘤素1（NF1）在STS肿瘤组织中出现异常表达，并且NF1基因受miRNA调节。本研究旨在评估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例STS患者和170例健康对照的信息和外周血样本。使用Sequenom MassARRAYⓇ矩阵辅助激光解吸/电离飞行质谱平台研究和基因分型了6个NF1相关miRNAs的单核苷酸多态性。使用无条件 logistic 回归分析估计多态性与 STS 风险之间的关联。miR-199a2 rs12139213的基因型分布在病例组和对照组之间有显著的统计差异（p = 0.026）。与野生 AA 基因型的个体相比，携带 AT/TT 基因型的个体 STS 风险增加了1.753倍（比值比[OR] = 1.753，95%置信区间[CI] = 1.090-2.819，p = 0.021），调整年龄和吸烟状况后，风险增加了1.907倍（OR = 1.907，95% CI = 1.173-3.102，p = 0.009）。miR24-3p rs4743988的 AG/GG 基因型的个体与纯合突变 AA 基因型的个体相比，STS风险显著降低（ OR = 0.605，95% CI = 0.376-0.973，p = 0.038）。携带 miR-199a2 rs12139213 的 AT/TT 基因型或 miR24-3p rs4743988 的 AA 基因型的个体可能易患STS，这可能成为STS诊断的潜在生物标志物。

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.