Department of Neurosurgery, Zhongnan Hospital of Wuhan University, No. 169 Donghu Road, Wuhan, 430071, China.
Department of Hematology, Union Hospital, Huazhong University of Science and Technology, Hubei Engineering Research Center for Human Stem Cell Preparation and Application and Resource Conservation, Wuhan, 430022, China.
Sci Rep. 2022 Feb 8;12(1):2062. doi: 10.1038/s41598-021-04330-4.
This study aimed to study the association between rs12976445 polymorphism and the incidence of IA re-bleeding. Genotype and allele frequency analysis was performed to study the association between rs12976445 polymorphism and the risk of IA re-bleeding. Western blot, ELISA and real-time RT-PCR were conducted to measure the relative expression of miR-125a, ET1 mRNA and ET1 protein. Computational analysis and luciferase assays were utilized to investigate the association between the expression of miR-125a and ET1 mRNA. No significant differences were observed between IA patients with or without symptoms of re-bleeding. Subsequent analyses indicated that the T allele was significantly associated with the reduced risk of IA re-bleeding. In patients carrying the CC genotype, miR-125a level was up-regulated while ET1 mRNA/protein levels were reduced compared with those in patients carrying the CT or TT genotype. And ET1 mRNA was identified as a virtual target gene of miR-125a with a potential miR-125a binding site located on its 3'UTR. Accordingly, the ET mRNA/protein levels could be suppressed by the transfection of miR-125a precursors, but the transfection of ET1 siRNA exhibited no effect on the expression of miR-125a. Therefore, an increased level of miR-125a can lead to the increased risk of IA re-bleeding. Since miR-125a level is higher in CC-genotyped patients, it can be concluded that the presence of T allele in the rs12976445 polymorphism is associated with a lower risk of IA re-bleeding, and miR-125a may be used as a novel diagnostic and therapeutic target for IA rupture.
本研究旨在探讨 rs12976445 多态性与 IA 再出血发生率之间的关系。进行基因型和等位基因频率分析,以研究 rs12976445 多态性与 IA 再出血风险之间的关系。采用 Western blot、ELISA 和实时 RT-PCR 检测 miR-125a、ET1mRNA 和 ET1 蛋白的相对表达量。利用计算分析和荧光素酶测定研究 miR-125a 与 ET1mRNA 表达之间的关系。IA 患者有无再出血症状之间无显著差异。进一步分析表明,T 等位基因与降低 IA 再出血风险显著相关。在携带 CC 基因型的患者中,miR-125a 水平上调,而 ET1mRNA/蛋白水平与携带 CT 或 TT 基因型的患者相比降低。并且,ET1mRNA 被鉴定为 miR-125a 的虚拟靶基因,其 3'UTR 上存在潜在的 miR-125a 结合位点。因此,miR-125a 前体的转染可以抑制 ETmRNA/蛋白水平,但 ET1siRNA 的转染对 miR-125a 的表达没有影响。因此,miR-125a 水平的升高可导致 IA 再出血风险的增加。由于 CC 基因型患者中 miR-125a 水平较高,因此可以得出结论,rs12976445 多态性中 T 等位基因的存在与 IA 再出血风险降低相关,miR-125a 可能作为 IA 破裂的新型诊断和治疗靶点。