Copy number variations of the F8 gene are associated with venous thromboembolism

Blood Cells, Molecules, and Diseases

Volumn 50, Issue 4, 2013, Pages 259-262

  Shen, Wei ^a   Gu, Yi ^a   Zhu, Rui ^a   Zhang, Lan ^b   Zhang, Jiwei ^b   Ying, Chunmei ^a  

^a SHANGHAI JIAO TONG UNIVERSITY SCHOOL OF MEDICINE   (China)

^b SHANGHAI JIAO TONG UNIVERSITY SCHOOL OF MEDICINE   (China)

Author keywords

Copy number variation; Plasma factor VIII; Venous thromboembolism

Indexed keywords

BLOOD CLOTTING FACTOR 8; GENOMIC DNA;

ADOLESCENT; ADULT; AGED; ARTICLE; CASE CONTROL STUDY; COMPUTER ASSISTED TOMOGRAPHY; CONTROLLED STUDY; COPY NUMBER VARIATION; DISEASE ASSOCIATION; DNA EXTRACTION; DOPPLER FLOWMETRY; F8 GENE; FEMALE; GENE; GENE AMPLIFICATION; GENE FREQUENCY; HUMAN; MAJOR CLINICAL STUDY; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; PHLEBOGRAPHY; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; REAL TIME POLYMERASE CHAIN REACTION; RISK FACTOR; VEIN THROMBOSIS;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; CASE-CONTROL STUDIES; DNA COPY NUMBER VARIATIONS; FACTOR VIII; FEMALE; GENE FREQUENCY; GENOTYPE; HUMANS; MALE; MIDDLE AGED; VENOUS THROMBOEMBOLISM; YOUNG ADULT;

EID: 84875492864     PISSN: 10799796     EISSN: 10960961     Source Type: Journal    
DOI: 10.1016/j.bcmd.2013.01.004     Document Type: Article

References (25)

1. Segal J.B., Brotman D.J., Emadi A., et al. Outcomes of genetic testing in adults with a history of venous thromboembolism. Evid. Rep. Technol. Assess. (Full Rep) 2009, 180:1-162.
2. Coppens M., van de Poel M.H., Bank I., et al. A prospective cohort study on the absolute incidence of venous thromboembolism and arterial cardiovascular disease in asymptomatic carriers of the prothrombin 20210A mutation. Blood 2006, 108:2604-2607.
3. De Stefano V., Simioni P., Rossi E., et al. The risk of recurrent venous thromboembolism in patients with inherited deficiency of natural anticoagulants antithrombin, protein C and protein S. Haematologica 2006, 91:695-698.
4. Pecheniuk N.M., Elias D.J., Deguchi H., et al. Elevated plasma fibronectin levels associated with venous thromboembolism. Thromb. Haemost. 2008, 100:224-228.
5. Weltermann A., Eichinger S., Bialonczyk C., et al. The risk of recurrent venous thromboembolism among patients with high factor IX levels. J. Thromb. Haemost. 2003, 1:28-32.
6. Siegemund A., Petros S., Siegemund T., et al. The endogenous thrombin potential and high levels of coagulation factor VIII, factor IX and factor XI. Blood Coagul. Fibrinolysis 2004, 15:241-244.
7. Meijers J.C., Tekelenburg W.L., Bouma B.N., et al. High levels of coagulation factor XI as a risk factor for venous thrombosis. N. Engl. J. Med. 2000, 342:696-701.
8. Ryland J.K., Lawrie A.S., Mackie I.J., et al. Persistent high factor VIII activity leading to increased thrombin generation - a prospective cohort study. Thromb. Res. 2012, 129:447-452.
9. Jenkins P.V., Rawley O., Smith O.P., et al. Elevated factor VIII levels and risk of venous thrombosis. Br. J. Haematol. 2012, 157:653-663.
10. Machlus K.R., Lin F.C., Wolberg A.S. Procoagulant activity induced by vascular injury determines contribution of elevated factor VIII to thrombosis and thrombus stability in mice. Blood 2011, 118:3960-3968.
11. Bach J., Haubelt H., Hellstern P. Sources of variation in factor VIII, von Willebrand factor and fibrinogen measurements: implications for detecting deficiencies and increased plasma levels. Thromb. Res. 2010, 126:e188-e195.
12. Fanciulli M., Petretto E., Aitman T.J. Gene copy number variation and common human disease. Clin. Genet. 2010, 77:201-213.
13. Yu B., Guan M., Peng Y., et al. Copy number variations of interleukin-17F, interleukin-21, and interleukin-22 are associated with systemic lupus erythematosus. Arthritis Rheum. 2011, 63:3487-3492.
14. Yu B., Shao Y., Li P., et al. Copy number variations of the human histamine H4 receptor gene are associated with systemic lupus erythematosus. Br. J. Dermatol. 2010, 163:935-940.
15. Ding Q., Shen W., Ye X., et al. Clinical and genetic features of protein C deficiency in 23 unrelated Chinese patients. Blood Cells Mol. Dis. 2013, 50:53-58.
16. Kreidy R., Salameh P., Waked M. Lower extremity venous thrombosis in patients younger than 50years of age. Vasc. Health Risk Manag. 2012, 8:161-167.
17. Cordoba I., Pegenaute C., González-López T.J., et al. Risk of placenta-mediated pregnancy complications or pregnancy-related VTE in VTE-asymptomatic families of probands with VTE and heterozygosity for factor V Leiden or G20210 prothrombin mutation. Eur. J. Haematol. 2012, 89:250-255.
18. Lijfering W.M., Rosendaal F.R., Cannegieter S.C. Risk factors for venous thrombosis - current understanding from an epidemiological point of view. Br. J. Haematol. 2010, 149:824-833.
19. Samková A., Lejhancová K., Hak J., et al. Venous thromboembolism in adolescents. Acta Med. (Hradec Kralove) 2012, 55:78-82.
20. Rudolph A., Hein R., Hoffmeister M., et al. Copy number variations of GSTT1 and GSTM1, colorectal cancer risk and possible effect modification of cigarette smoking and menopausal hormone therapy. Int. J. Cancer 2012, 131:E841-E848.
21. Ye T., Lipska B.K., Tao R., et al. Analysis of copy number variations in brain DNA from patients with schizophrenia and other psychiatric disorders. Biol. Psychiatry 2012, 72:651-654.
22. Heit J.A., Armasu S.M., Asmann Y.W. A genome-wide association study of venous thromboembolism identifies risk variants in chromosomes 1q24.2 and 9q. J. Thromb. Haemost. 2012, 10:1521-1531.
23. Jang M.J., Yhim H.Y., Lee J.O., et al. ABO blood types are associated with risk of idiopathic venous thromboembolism in the Korean population. A report from the Korean Venous Thromboembolism Working Party (KVTEWP). Thromb. Haemost. 2012, 107:799-801.
24. Smith N.L., Chen M.H., Dehghan A., et al. Novel associations of multiple genetic loci with plasma levels of factor VII, factor VIII, and von Willebrand factor: The CHARGE (Cohorts for Heart and Aging Research in Genome Epidemiology), Consortium. Circulation 2010, 121:1382-1392.
25. Cohen W., Castelli C., Alessi M.C., et al. ABO blood group and von Willebrand factor levels partially explained the incomplete penetrance of congenital thrombophilia. Arterioscler. Thromb. Vasc. Biol. 2012, 32:2021-2028.