World Journal of Emergency Medicine ›› 2015, Vol. 6 ›› Issue (2): 100-104.doi: 10.5847/wjem.j.1920-8642.2015.02.003
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Lian-xing Zhao, Bo Liu, Chun-sheng Li()
Received:
2014-09-23
Accepted:
2015-04-06
Online:
2015-06-15
Published:
2015-06-15
Contact:
Chun-sheng Li
E-mail:lcscyyy@163.com
Lian-xing Zhao, Bo Liu, Chun-sheng Li. Progress in research into the genes associated with venous thromboembolism[J]. World Journal of Emergency Medicine, 2015, 6(2): 100-104.
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URL: http://wjem.com.cn//EN/10.5847/wjem.j.1920-8642.2015.02.003
1 |
Souto JC, Almasy L, Borrell M, Blanco-Vaca F, Mateo J, Soria JM, et al. Genetic susceptibility to thrombosis and its relationship to physiological risk factors: the GAIT study. Am J Hum Genet 2000; 67:1452-1459.
pmid: 11038326 |
2 |
Zakai NA, McClure LA. Racial differences in venous thromboembolism. J Thromb Haemost 2011; 9:1877-1882.
pmid: 21797965 |
3 | Margaglione M, Grandone E. Population genetics of venous thromboembolism. A narrative review. Thromb Haemost 2011; 105:221-231. |
4 | Dahlbäck B, Carlsson M, Svensson PJ. Familial thrombophilia due to a previously unrecongnized mechanism characterized by poor anticoagulant response to activated protein C: prediction of a cofactor to activated protein C. Proc Natl Acad Sci USA 1993; 90:1004-1008. |
5 |
Bertina RM, Koeleman BP, Koster T, Rosendaal FR, Dirven RJ, de Ronde H, et al. Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature 1994; 369:64-67.
doi: 10.1038/369064a0 pmid: 8164741 |
6 |
Dahlbäck B. Advances in understanding pathogenic mechanisms of thrombophilic disorders. Blood 2008; 112:19-27.
pmid: 18574041 |
7 | Segers K, Dahlbäck B, Nicolaes GA. Coagulation factor V and thrombophilia: background and mechanisms. Thromb Haemost 2007; 98:530-542. |
8 |
Ridker PM, Hennekens CH, Lindpaintner K, Stampfer MJ, Eisenberg PR, Miletich JP. Mutation in the gene coding for coagulation factor V and the risk of myocardial infarction, stroke, and venous thrombosis in apparently healthy men. N Engl J Med 1995; 332:912-917.
pmid: 7877648 |
9 | Rosendaal FR, Koster T, Vandenbroucke JP, Reitsma PH. High risk of thrombosis in patients homozygous for factor V Leiden (activated protein C resistance). Blood 1995; 85:1504-1508. |
10 |
Brugge JM, Simioni P, Bernardi F, Tormene D, Lunghi B, Tans G, et al. Expression of the normal factor V allele modulates the APC resistance phenotype in heterozygous carriers of the factor V Leiden mutation. J Thromb Haemost 2005; 3:2695-2702.
doi: 10.1111/j.1538-7836.2005.01634.x pmid: 16359508 |
11 | Kujovich JL. Factor V Leiden thrombophilia. Genet Med 2011; 13:1-16. |
12 |
Akar N, Akar E, Yilmaz E. Factor V (His1299Arg) in Turkish patients with venous thromboembolism. Am J Hematol 2000; 63:102-103.
pmid: 10629578 |
13 | Danckwardt S, Gehring NH, Neu-Yilik G, Hundsdoerfer P, Pforsich M, Frede U, et al. The prothrombin 3' end formation signal reveals a unique architecture that is sensitive to thrombophilic gain-of-function mutations. Blood 2004; 104:428-435. |
14 | Poort SR, Rosendaal FR, Reitsma PH, Bertina RM. A common genetic variation in the 3'-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis. Blood 1996; 88:3698-3703. |
15 | Attia FM, Mikhailidis DP, Reffat SA. Prothrombin gene G20210A mutation in acute deep venous thrombosis patients with poor response to warfarin therapy. Open Cardiovascular Med J 2009; 3:147-151. |
16 | Reitsma PH, Bernardi F, Doig RG, Gandrille S, Greengard JS, Ireland H, et al. Protein C deficiency: a database of mutations, 1995 update. On behalf of the Subcommittee on Plasma Coagulation Inhibitors of the Scientific and Standardization Committee of the ISTH. Thromb Haemost 1995; 73:876-889. |
17 |
Abu-Amero KK, Owaidah TM, Al-Mahed M. Severe type I protein C deficiency with neonatal purpura fulminans due to a novel homozygous mutation in exon 6 of the protein C gene. J Thromb Haemost 2006; 4:1152-1153.
pmid: 16689776 |
18 | Hackeng TM, Maurissen LF, Castoldi E, Rosing J. Regulation of TFPI function by protein S. J Thromb Haemost 2009; 7 Suppl 1: 165-168. |
19 |
Chattopadhyay R, Sengupta T, Majumder R. Inhibition of intrinsic Xase by protein S: a novel regulatory role of protein S independent of activated protein C. Arterioscler Thromb Vasc Biol 2012; 32:2387-2393.
pmid: 22904276 |
20 |
Lane DA, Olds RJ, Boisclair M, Chowdhury V, Thein SL, Cooper DN, et al. Antithrombin III mutation database: first update. For the Thrombin and its Inhibitors Subcommittee of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis. Thromb Haemost 1993; 70:361-369.
pmid: 8236149 |
21 |
Zhu T, Ding Q, Bai X, Wang X, Kaguelidou F, Alberti C, et al. Normal ranges and genetic variants of antithrombin, protein C and protein S in the general Chinese population. Results of the Chinese Hemostasis Investigation on Natural Anticoagulants Study 1 Group. Haematologica 2011; 96:1033-1040.
pmid: 21486865 |
22 | Shen MC, Lin JS, Tsay W. Protein C and protein S deficiencies are the most important risk factors associated with thrombosis in Chinese venous thrombophilic patients in Taiwan. Thromb Res 2000; 99:447-452. |
23 |
Patnaik MM, Moll S. Inherited antitihrombin deficiency: a review. Haemophilia 2008; 14:1229-1239.
doi: 10.1111/j.1365-2516.2008.01830.x pmid: 19141163 |
24 |
Luxembourg B, Delev D, Geisen C, Spannagl M, Krause M, Miesbach W, et al. Molecular basis of antithrombin deficiency. Thromb Haemost 2011; 105:635-646.
pmid: 21264449 |
25 | Zhou R, Shi G, Fu Q, Wang WB, Xie S, Dai J, et al. A heterozygous point mutation G13328A in antithrombin gene causes thrombosis. Chin J Hematol 2005; 26:661-664. |
26 | Wang LP, Qiu YW, Yin AL, Ma YY, Liu KL, Xiong L, et al. Denaturing high-performance liquid chromatography for screening antithrombin III gene mutation and polymorphisms in patients with cerebral venous thrombosis. J South Med Univ 2009; 29:1982-1986. |
27 |
Tsay W, Shen MC. R147W mutation of PROC gene is common in venous thrombotic patients in taiwanese Chinese. Am J Hematol 2004; 76:8-13.
pmid: 15114590 |
28 |
Ding Q, Shen W, Ye X, Wu Y, Wang X, Wang H. Clinical and genetic features of protein C deficiency in 23 unrelated Chinese patients. Blood Cells Mol Dis 2013; 50:53-58.
pmid: 22951146 |
29 | Ye X, Liu X, Feng Y, Ding Q, Zhou X, Wang X. A pedigree analysis of pulmonary embolism caused by compound heterozygous mutations of protein C. J South Med Univ 2012; 32:109-112. |
30 |
Tang L, Guo T, Yang R, Mei H, Wang H, Lu X, et al. Genetic background analysis of protein C deficiency demonstrates a recurrent mutation associated with venous thrombosis in Chinese population. PLoS One 2012; 7:e35773.
pmid: 22545135 |
31 |
Tang L, Lu X, Yu JM, Wang QY, Yang R, Guo T, et al. PROC c.574_576del polymorphism: a common genetic risk factor for venous thrombosis in the Chinese Population. J Thromb Haemost 2012; 10:2019-2026.
pmid: 22817391 |
32 |
Hamasaki N. Unmasking Asian thrombophilia: is APC dysfunction the real culprit ?. J Thromb Haemost 2012; 10:2016-2018.
pmid: 22905992 |
33 |
Tang L, Jian XR, Hamasaki N, Guo T, Wang HF, Lu X, et al. Molecular basis of protein S deficiency in China. Am J Hematol 2013; 88:899-905.
pmid: 23813890 |
34 |
Tang L, Wang HF, Lu X, Jian XR, Jin B, Zheng H, et al. Common genetic risk factors for venous thrombosis in the Chinese population. Am J Hum Genet 2013; 92:177-187.
pmid: 23332921 |
35 |
Akhter MS, Biswas A, Ranjan R, Sharma A, Kumar S, Saxena R. The nitric oxide synthase 3 gene polymorphisms and their association with deep vein thrombosis in Asian Indian patients. Clin Chim Acta 2010; 411:649-652.
pmid: 20114041 |
36 |
Li YY, Zhai ZG, Yang YH, Pang BS, Wang HY, Zhang W, et al. Association of the 894G>T polymorphism in the endothelial nitric oxide synthase gene with risk of venous thromboembolism in Chinese population. Thromb Res 2011; 127:324-327.
pmid: 21320716 |
37 | Cai H, Hua B, Fan L, Wang Q, Wang S, Zhao Y. A novel mutation (g2172→c) in the factor V gene in a Chinese family with hereditary activated protein C resistance. Thromb Res 2010; 125:545-548. |
38 |
Shen W, Gu Y, Zhu R, Zhang L, Zhang J, Ying C. Copy number variations of the F8 gene are associated with venous thromboembolism. Blood Cells Mol Dis 2013; 50:259-262.
pmid: 23403259 |
39 |
Beckers MM, Ruven HJ, Haas FJ, Doevendans PA, ten Cate H, Prins MH, et al. Single nucleotide polymorphisms in infalmmation-related genes are associated with venous thromboembolism. Eur J Intern Med 2010; 21:289-292.
pmid: 20603037 |
40 | He JA, Hu XH, Fan YY, Yang J, Zhang ZS, Liu CW, et al. Hyperhomocysteinaemia, low folate concerntrations and methylene tetrahydrofolate reductase C677T mutation in acute mesenteric venous thrombosis. Eur J Vasc Endovasc Surg 2010; 39:508-513. |
41 | Ma H, Wen S, Zhang W. Effect of polymorphism of PAI-1 promotor region gene and its plasma level on patients with acute pulmonary thromboembolism. Chin J Med 2008; 17:521-524. |
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