法医学杂志

法医学杂志 ›› 2021, Vol. 37 ›› Issue (2): 145-150，157.DOI: 10.12116/j.issn.1004-5619.2019.491213

• 论著 •    下一篇

凝血相关基因多态性与下肢深静脉血栓形成的相关性

姜垚如1， 牛蕾蕾1， 冯娜1， 范浩亮2，3， 靳茜茜1， 杜秋香1， 曹洁1， 王英元1， 孙俊红1   

  1. 1. 山西医科大学法医学院，山西 太原 030001； 2. 南方医科大学法医学院，广东 广州 510515； 3. 海南医学院基础医学与生命科学学院，海南 海口 571199
  • 收稿日期:2019-12-18 发布日期:2021-04-25 出版日期:2021-04-28
  • 通讯作者: 孙俊红，男，教授，博士研究生导师，主要从事损伤病理学和猝死病理学研究；E-mail：sunjunhong146@163.com 王英元，男，教授，博士研究生导师，主要从事法医病理学研究；E-mail：wyy580218@163.com
  • 作者简介:姜垚如（1994—），女，硕士研究生，主要从事法医病理学研究；E-mail：jyr19940819@163.com
  • 基金资助:
    国家重点研发计划资助项目（2017YFC0803502）；国家自然科学基金面上项目（81470088）

Correlation between the Polymorphism of Coagulation-Related Genes and Lower Extremity Deep Venous Thrombosis

JIANG Yao-ru1, NIU Lei-lei1, FENG Na1, FAN Hao-liang2,3, JIN Qian-qian1, DU Qiu-xiang1, CAO Jie1, WANG Ying-yuan1, SUN Jun-hong1   

  1. 1. School of Forensic Medicine, Shanxi Medical University, Taiyuan 030001, China; 2. School of Forensic Medicine, Southern Medical University, Guangzhou 510515, China; 3. School of Basic Medicine and Life Science, Hainan Medical University, Haikou 571199, China
  • Received:2019-12-18 Online:2021-04-25 Published:2021-04-28

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摘要： 目的 探讨rs1799963（凝血因子V基因Leiden）、rs6025（凝血酶原基因G20210A）、rs1042579（血栓调节蛋白基因c.1418C>T）及rs1801131（亚甲基四氢叶酸还原酶基因） 4个凝血相关基因的多态性与下肢深静脉血栓形成的相关性。 方法 采用竞争性等位基因特异性聚合酶链反应（kompetitive allele specific polymerase chain reaction，KASP）技术检测150例下肢深静脉血栓患者及153例健康对照者上述4个基因分型，采集相关血液生物化学指标，建立二元Logistic回归筛选下肢深静脉血栓形成的独立危险因素，校正混杂因素后在不同遗传模式下分析下肢深静脉血栓与各指标及4种凝血相关基因多态性的相关性。 结果 D-二聚体、纤维蛋白原降解产物、同型半胱氨酸、性别、年龄这5个变量可能是下肢深静脉血栓形成的危险因素。将这些变量引入4种基因遗传模式，在二元Logistic回归环境下进行校正，结果显示，rs1042579突变在显性遗传模式下与下肢深静脉血栓形成具有相关性。 结论 rs1799963、rs6025、rs1801131的基因多态性与下肢深静脉血栓形成无明显相关性，rs1042579的基因多态性在显性遗传模式下发挥作用，可能是下肢深静脉血栓形成的独立危险因素。

关键词: 法医病理学, 法医遗传学, 深静脉血栓形成, 基因多态性, 凝血, 肺栓塞, 竞争性等位基因特异性聚合酶链反应

Abstract: Objective To investigate the correlation between the polymorphism of 4 coagulation-related genes, rs1799963 （coagulation factor V gene Leiden）, rs6025 （prothrombin gene G20210A）, rs1042579 （thrombomodulin protein gene c.1418C>T） and rs1801131 （methylenetetrahydroflate reductase gene） and lower extremity deep venous thrombosis （LEDVT）. Methods The 4 genotypes mentioned above of 150 LEDVT patients and 153 healthy controls were detected by the kompetitive allele specific polymerase chain reaction （KASP）, then related blood biochemical indicators were collected, binary Logistic regression was established to screen the independent risk factors of LEDVT, and the correlation between polymorphism of 4 coagulation-related genes and LEDVT and its indicators under different genetic modes after adjusting confounding factors were analyzed. Results Five variables, D-dimer, fibrinogen degradation product, homocysteine, sex and age might be the risk factors of LEDVT. These variables were put into 4 genetic inheritance models, and adjusted in binary Logistic regression. The results suggested that the mutations of rs1042579 were correlated with LEDVT under dominant inheritance mode. Conclusion The gene polymorphism of rs1799963, rs6025 and rs1801131 has no significant correlation with the formation of LEDVT. The gene polymorphism of rs1042579 plays a role under dominant inheritance mode, and might be an independent risk factor for formation of LEDVT.

Key words: forensic pathology, forensic genetics, deep venous thrombosis, gene polymorphism, blood coagulation, pulmonary embolism, kompetitive allele specific polymerase chain reaction

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