Yang Qingcheng, Wang Xuechang, Wang Rui, Li Aihua
Department of Pharmacy, The Affiliated Anning First People's Hospital, Kunming University of Science and Technology, Anning, P.R. China.
Vascular. 2025 Feb;33(1):186-191. doi: 10.1177/17085381241240554. Epub 2024 Mar 15.
Previous research had shown that age, a positive family history, comorbidities, major surgical operations, gestation, and use of several medications could increase the incidence of venous thromboembolism (VTE). With the development of medical and clinical individualized treatment, many people exposed to above risk factors did not develop VTE, suggested that genetic factors are also involved in the development of VTE. In this review, we aim to summarize VTE diagnosis and treatment in pregnancy women related to gene polymorphism.
A comprehensive electronic search using PubMed, MEDLINE, EMBASE and Web of Science was conducted to find relevant journal articles with key search terms including: "pregnancy OR pregnant," "venous thromboembolism OR VTE," "deep vein thrombosis OR DVT," "pulmonary embolism OR PE," and "genetic OR gene." Prominent publications from establishment of database till present were analysed to achieve a deeper understanding of VTE during pregnancy relate to genetic polymorphism, and the information was then collated to form this review.
The literature review revealed that inherited thrombophilia significantly associated with the development of VTE, especially the factor V Leiden (FVL) and prothrombin gene mutation (PGM). Furthermore, the role of methylenetetrahydrofolate reductase (MTHFR) gene mutation in the development of pregnancy-related VTE remains controversial, further study is required. In the present study, Marburg I polymorphism (G511 E), c.1538 G>A and c.1601 G>A in Factor V (FV), JAK2V617 F mutation were reported as an independent risk factor for VTE, there is no sufficient evidence to confirm the gene mutation is related to VTE during pregnancy, these factors appearing as another promising potential diagnostic marker of VTE during pregnancy. Besides, the dosages of heparin in the treatment of VTE during pregnancy need be adjusted according to gene polymorphism of these population, particularly FVL or PGM carriers, and this area is not studied deeply, it is worth further study.
Inherited thrombophilia significantly associated with the development of VTE, especially the FVL and PGM, however the relation between MTHFR gene mutation and pregnancy-related VTE remains controversial, further study is needed. In addition, the dosages of heparin in the treatment of VTE during pregnancy suggested to adjusted based on gene polymorphism in FVL and PGM, and establish better prediction models is a direction of future research.
既往研究表明，年龄、阳性家族史、合并症、大手术、妊娠以及多种药物的使用均可增加静脉血栓栓塞症（VTE）的发病率。随着医学和临床个体化治疗的发展，许多暴露于上述危险因素的人并未发生VTE，提示遗传因素也参与了VTE的发生发展。在本综述中，我们旨在总结与基因多态性相关的妊娠女性VTE的诊断和治疗。
使用PubMed、MEDLINE、EMBASE和Web of Science进行全面的电子检索，以查找相关期刊文章，关键检索词包括：“妊娠或怀孕”、“静脉血栓栓塞症或VTE”、“深静脉血栓形成或DVT”、“肺栓塞或PE”以及“遗传或基因”。分析从数据库建立至今的重要出版物，以更深入地了解妊娠期间与基因多态性相关的VTE，并整理这些信息以形成本综述。
文献综述显示，遗传性易栓症与VTE的发生显著相关，尤其是因子V莱顿突变（FVL）和凝血酶原基因突变（PGM）。此外，亚甲基四氢叶酸还原酶（MTHFR）基因突变在妊娠相关VTE发生中的作用仍存在争议，需要进一步研究。在本研究中，报道了马尔堡I多态性（G511E）、因子V（FV）中的c.1538G>A和c.1601G>A、JAK2V617F突变是VTE的独立危险因素，但尚无足够证据证实这些基因突变与妊娠期间的VTE相关，这些因素有望成为妊娠期间VTE的另一种潜在诊断标志物。此外，妊娠期间VTE治疗中肝素的剂量需要根据这些人群的基因多态性进行调整，尤其是FVL或PGM携带者，而该领域尚未深入研究，值得进一步探讨。
遗传性易栓症与VTE的发生显著相关，尤其是FVL和PGM，但MTHFR基因突变与妊娠相关VTE的关系仍存在争议，需要进一步研究。此外，建议根据FVL和PGM的基因多态性调整妊娠期间VTE治疗中肝素的剂量，建立更好的预测模型是未来研究的一个方向。
