|
|
Research of factor XII gene Exon1-46C/T polymorphism in cerebral infarction patients |
XU Qiyu, JIN Yanhui, LIU Meina, LIU Huanle, WANG Mingshan. |
Laboratory Medicine Center, the First Affiliated Hospital of Wenzhou Medical University, Wenzhou, 325015
|
|
Cite this article: |
XU Qiyu,JIN Yanhui,LIU Meina, et al. Research of factor XII gene Exon1-46C/T polymorphism in cerebral infarction patients[J]. JOURNAL OF WEZHOU MEDICAL UNIVERSITY, 2017, 47(5): 372-375.
|
|
Abstract Objective: To investigate the correlation and fibrinolysis influence of factor XII gene (FXII) polymorphism on the patients with cerebral infarction. Methods: Direct sequencing was used to analyze the 46 polymorphism at promoter regions in factor XII gene among cerebral infarction patients and healthy controls. Meanwhile, the activity of plasma factor XII (FXII:C), fibrinogen (FIB), D-dimer (D-D) and the activity of plasminogen (PLG:A) were measured. Results: The rate of 46TT of factor XII gene (FXII) polymorphism in patients with cerebral infarction was higher than that in healthy controls, and the differences on the distribution were statistically significant (P<0.05). By analysis of genotype single factor, the risk of T genotype was higher 1.865 times than that of C genetype and the risk of TT genotype was higher 3.021 times than that of (CC+CT) unite genotype in the cerebral infarction patients. Compared with the healthy controls, the FXII:C and PLG:A were obviously lower and D-D were higher in 46TT group (P<0.05), and there were no differences of D-D in these groups. Conclusion: The FXII gene 46TT polymorphism is obviously increased in patients with cerebral infarction, and it can lead to evidently decreased the activity of FXII, then affects the body’s fibrinolysis.
|
Received: 17 May 2016
|
|
|
|
|
[1] Della-Morte D, Guadagni F, Palmirotta R, et al. Genetics of ischemic stroke, stroke-related risk factors, stroke precursors and treatments[J]. Pharmacogenomics, 2012, 13(5): 595-613.
[2] 茅新蕾, 韩丽雅, 黄向东, 等. eNOS基因rs1799983位点多态性与脑梗死的相关性分析[J]. 温州医科大学学报, 2015, 45(9): 652-655.
[3] Tirado I, Soria J M, Mateo J, et a1. 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.
[4] Braat E A, Dooijeward G, Rijken D C. Fibrinolytic properties of activated FXII[J]. Eur J Biochem, 1999, 263(3): 904-911.
[5] Feng Y, Ye X, Pang Y, et al. A novel mutation in a patient with congenital coagulation factor XII deficiency[J]. Chin Med J (Engl), 2008, 121(13): 1241-1244.
[6] SORIA J M, ALMASY L, SOUTO J C, et al. A quantitative trait locus in the human factor XII gene influences both plasma factor XII levels and susceptibility to thrombotic disease[J]. Am J Hum Genet, 2002, 70(3): 567-574.
[7] ZITO F, LOWE G D, RUMLEYA, et al. Association of the factor XII 46C>T polymorphism with risk of coronary heart disease (CHD) in the WOSCOPS study[J]. Atherosclerosis, 2002, 165(1): 153-158.
[8] 张玲, 于艳辉, 吴山力, 等. 中国人群FXII 46C/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.
[9] 谢耀盛, 王明山, 谢海啸, 等. FXII基因多态性对静脉血栓形成患者抗凝功能的影响及意义[J]. 实用医学杂志, 2011, 27(10): 1874-1876.
[10] SANTAMARIA A, MATEO J, TIRADO I, et al. Homozygosity of the tallele of the 46C->T polymorphism in the F12 gene is a risk factor for ischemic stroke in the Spanish population[J]. Stroke, 2004, 35(8): 1795-1799.
[11] Klenschnitz C, Stoll G, Bendszus M, et al. Targeting coagulation factor XII provides protection from pathological thrombosis in cerebral ischemia without interfering with hemostasis[J]. J exp Med, 2006, 203(3): 513-518.
[12] 谢海啸, 王莹宇, 周武, 等. 凝血因子FXII缺陷症导致再发体外受精和胚胎移植失败原因2例分析[J]. 温州医科大学学报, 2014, 44(4): 286-289.
|
|
|
|