Journal of Forensic Medicine ›› 2021, Vol. 37 ›› Issue (2): 145-150,157.DOI: 10.12116/j.issn.1004-5619.2019.491213

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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

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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