Xie Shifeng, Chen Qiuyi, Lin Xi, Wu Guitao, Tan Xiaoyun, Liu Zhenyin
Department of Interventional Radiology and Vascular Anomalies, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, 9 Jinsui Road, Guangzhou, 510623, Guangdong, China.
Sci Rep. 2025 Jul 1;15(1):21388. doi: 10.1038/s41598-025-06437-4.
Venous malformations are a common congenital vascular disorder. MicroRNAs are micro non-coding RNAs that are responsible for regulating the expression of genes after transcription. This study aimed to investigate the relationship between miR-938 rs2505901 T > C polymorphism and venous malformations. We collected blood samples from 1,113 patients with venous malformations and 1,158 members of the control group. TaqMan genotyping of miR-938 rs2505901 T > C was performed by real-time fluorescence quantitative polymerase chain reaction. We found the miR-938 rs2505901 T > C polymorphism was significantly associated with reduced risk of venous malformations in children [CC vs. TT: adjusted OR = 0.56, 95% confidence interval (CI) = 0.33-0.94, P = 0.027; CC vs. TT/TC: adjusted OR = 0.56, 95% CI = 0.33-0.93, P = 0.026]. We categorized venous malformations into six subtypes: head, neck, trunk, upper extremity, lower extremity, and multisite. Stratified analysis of rs2505901 T > C and venous malformations at different sites showed that the rs2505901 T > C polymorphism was significantly associated with a reduced risk of venous malformations occurring in the head. [Crude OR = 0.37, 95% CI = 0.17-0.82, P = 0.014; adjusted OR = 0.40, 95% CI = 0.17-0.92, P = 0.031]. The miR-938 rs2505901 T > C polymorphism was significantly associated with a reduced risk of venous malformations in children, and rs2505901 T > C was significantly associated with a reduced risk of venous malformations occurring in the head; the underlying mechanisms of venous malformations still need to be further study.
静脉畸形是一种常见的先天性血管疾病。微小RNA是微小的非编码RNA，负责在转录后调节基因表达。本研究旨在探讨miR-938 rs2505901 T>C多态性与静脉畸形之间的关系。我们收集了1113例静脉畸形患者和1158例对照组成员的血液样本。通过实时荧光定量聚合酶链反应对miR-938 rs2505901 T>C进行TaqMan基因分型。我们发现，miR-938 rs2505901 T>C多态性与儿童静脉畸形风险降低显著相关[CC与TT：校正OR=0.56，95%置信区间（CI）=0.33-0.94，P=0.027；CC与TT/TC：校正OR=0.56，95%CI=0.33-0.93，P=0.026]。我们将静脉畸形分为六个亚型：头部、颈部、躯干、上肢、下肢和多部位。对rs2505901 T>C与不同部位静脉畸形的分层分析表明，rs2505901 T>C多态性与头部发生静脉畸形的风险降低显著相关[粗OR=0.37，95%CI=0.17-0.82，P=0.014；校正OR=0.40，95%CI=0.17-0.92，P=0.031]。miR-938 rs2505901 T>C多态性与儿童静脉畸形风险降低显著相关，且rs2505901 T>C与头部发生静脉畸形的风险降低显著相关；静脉畸形的潜在机制仍需进一步研究。
