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miR-938 rs2505901基因座T > C多态性与中国人群静脉畸形风险降低的关联

Association of miR-938 rs2505901 T > C polymorphism with reduced risk of venous malformations in a Chinese population.

作者信息

Xie Shifeng, Chen Qiuyi, Lin Xi, Wu Guitao, Tan Xiaoyun, Liu Zhenyin

机构信息

Department of Interventional Radiology and Vascular Anomalies, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, 9 Jinsui Road, Guangzhou, 510623, Guangdong, China.

出版信息

Sci Rep. 2025 Jul 1;15(1):21388. doi: 10.1038/s41598-025-06437-4.

Abstract

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.

摘要

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。

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