基于全基因组关联研究,确定了血栓模块素和V因子作为深静脉血栓形成的最佳生物标志物组合
Usi Sukorini1,2, Gisca Ajeng Widya Ninggar1,2, Mohammad Hendra Setia Lesmana3
1Department of Clinical Pathology and Laboratory Medicine, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada, Yogyakarta, 55281, Indonesia.
Genomics & informatics
|May 15, 2025
概括
确定深静脉血栓塞 (DVT) 风险的最佳生物标志物至关重要. 这项研究强调了血栓模块素 (THBD) 和V因子 (F5) 作为对DVT预测有前途的基于血液的遗传标记物.
科学领域:
- 遗传学和分子生物学
- 血管医学 血管医学
- 生物标志物发现发现
背景情况:
- 深静脉血栓症 (DVT) 由于深静脉中的血栓形成,造成了严重的健康风险.
- 由于复杂的遗传和分子因素,预测DVT风险具有挑战性.
- 早期DVT风险评估需要可靠的生物标志物.
研究的目的:
- 识别和优先考虑DVT风险预测的遗传标记.
- 确定DVT最有前途的遗传生物标志物.
- 调查遗传生物标志物的潜力,用于血栓性疾病的精密医学.
主要方法:
- 利用全基因组关联研究 (GWAS) 的发现.
- 应用了一个功能性注释评分系统来优先考虑遗传标记.
- 分析了基因表达水平,并使用了诸如GWAS Catalog,HaploReg,WebGestalt,Enrichr和GTEx Portal等数据库.
主要成果:
- 确定了5种潜在的DVT生物标志物.
- 突出显示了血栓模块素 (THBD) 和V因子 (F5) 作为最好的基于血液的生物标志物.
- THBD和F5显示血液表达和相关eQTLs的升高,在凝血途径中具有明确的作用.
结论:
- THBD和F5在机理上与DVT病变产生有关.
- 这些遗传标记物适合进行非侵入性临床评估.
- 遗传生物标志物可以显著改善DVT风险评估,并推进精准医学.
关键词:
生物标志物 生物标志物深静脉血栓形成的原因是深静脉血栓.F5 F5 F5 F5 F5 F5 F5 F5 F5 F5 F5 F5 F5 F5 F5因素V 是一个因素.全基因组关联研究研究.单个核酸的多态性.THBD THBD 在线观看血栓模块素 (Thrombomodulin) 是一种血栓的组成部分.更多相关视频
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