Effects of Factor Ⅻ Polymorphism on the coagulation and fibrinolysis in patients with venous thrombosis

Abstract

Abstract: Objective　To investigate the influence of factor Ⅻ(FⅫ) polymorphism on the coagulation and fibrinolysis in patients with venous thrombosis. Methods　The activity of plasma factor Ⅻ（FⅫ∶C）, fibrinogen（FIB）, D-dimer（D-D）, factor Ⅷ（FⅧ∶C）, von Willabrand factor（VWF）, the activity of plasminogen（PLG∶A）, the activity of plasma antithrombin（AT∶A） and the activity of protein C（PC∶A）were measured by onestage recalcification clotting time assay, immunoturbidimetry assay and chromogenic substrate method in 75 patients with venous thrombosis and 60 healthy controls. The 46th basyl polymorphism at promoter regions in FⅫ gene was analyzed by direct sequencing. Results　The rate of 46TT polymorphism in patients with venous thrombosis was higher than that in control group, and the FⅫ∶C of the 46TT patients was obviously lower than those of the 46CT and 46CC patients and control group（P<0.05）. In 46TT group， AT∶A was lower than that in control group，but the FIB, D-D, FⅧ∶C and VWF were higher（P<0.05）. There were no significant differences in above parameters among the various FⅫ polymorphism groups with venous thrombosis（P>0.05）, and there were also no differences in PLG∶A and PC∶A among these groups（P>0.05）. Conclusions　The FⅫ gene 46TT polymorphism is obviously increased in patients with venous thrombosis, and it will cause the decreasing of FⅫ. There are no statistical significances in the parameters of the coagulation and fibrinolysis at each FⅫ polymorphism group with venous thrombosis.

Key words: Factor Ⅻ, Gene polymorphism, Coagulation, Fibrinolysis, Venous thrombosis

XIE Yaosheng;XIE Haixiao;WANG Mingshan;NIU Zhenzhen;JIN Yanhui. Effects of Factor Ⅻ Polymorphism on the coagulation and fibrinolysis in patients with venous thrombosis[J]. , 2012, 27(3): 213-216.

References

［1］Ho CH，Chau WK, Hsu HC, et al.Causes of venous thrombosis in fifty Chinese patients ［J］.Am J Hematol，2000，63(2)：74-78.

［2］Tirado I， Soria JM， Mateo J，et al. Association after linkage analysis indicates that homozygosity for the 46C->T polymorphism in the F12 gene is a genetic risk factor for venous thrombosis［J］.Thromb Haemost，2004，91(5):899-904.

［3］Colman RW. Biologic activities of the contact factors in vivo-potentiation of hypotension， inflammation， and fibrinolysis， and inhibition of cell adhesion， angiogenesis and thrombosis［J］. Thromb Haemost, 1999， 82(6): 1568-1577.

［4］Kanaji T， Okamura T， Osaki K， et al. A common genetic polymorphism (46C to T substitution) in the 5′-untranslated region of the coagulation factor Ⅻ gene is associated with low translation efficiency and decrease plasma factor Ⅻ level［J］. Blood， 1998， 91(6): 2010-2014.

［5］Zito F， Lowe GD， Rumley A， et al. Association of the factor Ⅻ 46 C>T polymorphism with risk of coronary heart disease (CHD)in the WOSCOPS study［J］.Atherosclerosis，2002，165(1)：153-158.

［6］Tirado I， Fontcuberta J， Soria JM. Rapid detection of the 46C->T polymorphism in the factor Ⅻ gene， a novel genetic risk factor for thrombosis, by melting peak analysis using fluorescence hybridization probes［J］. Genet Test， 2003，7(4)：295-301.

［7］张　玲，于艳辉，吴山力，等. 中国人群FⅫ46C／T多态性与血栓形成关联性解析［J］. 中国实验诊断学，2008，12(11)：1383-1387.

［8］周运恒，王鸿利.凝血因子Ⅻ与纤维蛋白溶解的关系［J］.医学综述，2002，8(4)：223-224.

［9］Endler G， Exner M， Mannhalter C，et al. A common C->T polymorphism at nt 46 in the promoter region of coagulation factor Ⅻ is associated with decreased factor Ⅻ activity［J］. Thromb Res， 2001， 101(4):255-260.

[1]	PENG Shouning, DENG Weicong, FU Yanbo, WU Yanni. Relationship between KCNH2 and CACNA1C gene polymorphisms and cognitive function in patients with schizophrenia [J]. Laboratory Medicine, 2023, 38(8): 742-747.
[2]	ZHANG Xuming, YIN Weiming, GAO Jing. Correlation of UGT1A1 gene polymorphism with pregnancy complications and adverse pregnancy outcomes among gestational hypothyroidism patients in Shenzhen Bao'an area [J]. Laboratory Medicine, 2023, 38(7): 665-668.
[3]	XIA Yanyan, XIA Yongquan, SONG Guanghao, XIA Mao. Role of coagulation-related monitoring indicators in the course of rivaroxaban anticoagulation for acute venous thromboembolism in elderly patients [J]. Laboratory Medicine, 2023, 38(5): 475-478.
[4]	LI Mu, GONG Dongliang, XU Liming, PENG Rong. Relationship of XPC rs2228000 polymorphisms and breast cancer [J]. Laboratory Medicine, 2023, 38(3): 235-239.
[5]	NIE Tian, RAN Zihan, JIN Lei. Research progress on the relationship between interleukin gene polymorphisms and gastric cancer [J]. Laboratory Medicine, 2022, 37(9): 882-886.
[6]	WANG Lingling, REN Chunli. Correlation of MTHFR gene C677T polymorphism and blood lipid levels with GDM [J]. Laboratory Medicine, 2022, 37(6): 543-546.
[7]	FAN Qingkun, LI Ling, DU Jia, YANG Jun, ZHANG Zhenlu. Problems and solutions on autoverification of coagulation test [J]. Laboratory Medicine, 2022, 37(6): 596-600.
[8]	SONG Jinping, MA Jing, HUANG Guohong. Clinical significance of von Willebrand factor determination in elderly patients with chronic heart failure complicated with lower extremity venous thrombosis [J]. Laboratory Medicine, 2022, 37(5): 438-442.
[9]	LI Keke, XIAO Yang. Research progress of coagulation factor Ⅴ and its association with hemorrhage and thrombosis [J]. Laboratory Medicine, 2022, 37(4): 396-399.
[10]	XIE Yuan, YI Wanwan, SHI Qiuyuan, LÜ Zhongwei, LIU Jin. Clinical value of thromboelastography and conventional coagulation tests in evaluating coagulation status of colon cancer and colon polyps [J]. Laboratory Medicine, 2022, 37(11): 1007-1011.
[11]	WANG Shan, XU Minyi, WANG Wei, JIANG Mingming, LU Pei, XIONG Zhongbo, WANG Lei. Clinical value of MTHFR gene C677T polymorphism determination in patients with H-type hypertension [J]. Laboratory Medicine, 2022, 37(11): 1012-1016.
[12]	SUN Yuehong, ZHANG Limin, LI Xiao, WANG Dan, WU Jing, LI Yuwen, ZHANG Guojun. Correlation between TEG and DIC and its diagnostic value [J]. Laboratory Medicine, 2021, 36(5): 495-499.
[13]	XIE Hui, SHEN Han. Changes of coagulation function and influence factors of hypercoagulability in patients with chronic kidney disease [J]. Laboratory Medicine, 2021, 36(5): 500-503.
[14]	LIU Tingting, LIN Yuting, Mila , LI Xiaoqin. Correlation between serum IL-33 level and its gene polymorphism and the clinical outcome of HBV infection [J]. Laboratory Medicine, 2021, 36(11): 1101-1105.
[15]	ZHENG Xin, HU Jun, ZHANG Xueqing, ZHANG Jun, YAO Dongting, HU Xiaobo. Application of six sigma management in shortening outpatient coagulation test's turn-around time in clinical laboratory [J]. Laboratory Medicine, 2021, 36(11): 1177-1180.