Genetic variation within the anticoagulant, procoagulant, fibrinolytic and innate immunity pathways as risk factors for venous thromboembolism

Journal of Thrombosis and Haemostasis

Volumn 9, Issue 6, 2011, Pages 1133-1142

  Heit, J A ^a   Cunningham, J M ^a   Petterson, T M ^a   Armasu, S M ^a   Rider, D N ^a   De Andrade, M ^a  

^a MAYO CLINIC   (United States)

Author keywords

Deep vein thrombosis; Genetics; Pulmonary embolism; Thrombophlebitis; Venous thromboembolism

Indexed keywords

ANTICOAGULANT PROTEIN; BLOOD CLOTTING FACTOR 11; BLOOD CLOTTING FACTOR 5; BLOOD CLOTTING FACTOR 5 LEIDEN; FIBRINOLYTIC FACTOR; GFRA1 PROTEIN; HIGH MOLECULAR WEIGHT KININOGEN; KLKB1 PROTEIN; PREKALLIKREIN; PROCOAGULANT; PROTHROMBIN; SCUBE1 PROTEIN; SELP PROTEIN; UNCLASSIFIED DRUG;

ADULT; AGED; ANTICOAGULATION; ARTICLE; BLOOD GROUP ABO SYSTEM; CARDIOVASCULAR RISK; CONTROLLED STUDY; DEMOGRAPHY; DISEASE ASSOCIATION; EUROPEAN AMERICAN; FEMALE; FIBRINOLYSIS; GENETIC MODEL; GENETIC VARIABILITY; GENOTYPE; HEART INFARCTION; HUMAN; INNATE IMMUNITY; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; STROKE; VENOUS THROMBOEMBOLISM;

ADULT; AGED; BLOOD COAGULATION; DISEASE SUSCEPTIBILITY; FEMALE; FIBRINOLYSIS; GENETIC VARIATION; GENOTYPE; HEMOSTASIS; HUMANS; IMMUNITY, INNATE; LINKAGE DISEQUILIBRIUM; MALE; MIDDLE AGED; RISK FACTORS; VENOUS THROMBOEMBOLISM;

EID: 79958040775     PISSN: 15387933     EISSN: 15387836     Source Type: Journal    
DOI: 10.1111/j.1538-7836.2011.04272.x     Document Type: Article

References (55)

1. Souto J, Almasy L, Borrell M, Blanco-Vaca F, Mateo J, Soria J, Coll I, Felices R, Stone W, Fontcuberta J, Blangero J. Genetic susceptibility to thrombosis and its relationship to physiological risk factors: the GAIT study. Genetic Analysis of Idiopathic Thrombophilia. Am J Hum Genet 2000; 67: 1452-9.
2. Larsen T, Sorensen H, Skytthe A, Johnsen S, Vaupel J, Christensen K. Major genetic susceptibility for venous thromboembolism in men: a study of Danish twins. Epidemiology 2003; 14: 328-32.
3. Heit J, Phelps M, Ward S, Slusser J, Petterson T, De Andrade M. Familial segregation of venous thromboembolism. J Thromb Haemost 2004; 2: 731-6.
4. Heit J. Thrombophilia: clinical and laboratory assessment and management. In: Kitchens C, Alving B, Kessler C, eds. Consultative Hemostatis and Thrombosis. Chapter 14. Philadelphia: Saunders, 2007: 213-44.
5. Ariëns R, de Lange M, Snieder H, Boothby M, Spector T, Grant P. Activation markers of coagulation and fibrinolysis in twins: heritability of the prethrombotic state. Lancet 2002; 359: 667-71.
6. Reitsma P, Rosendaal F. Activation of innate immunity in patients with venous thrombosis: the Leiden Thrombophilia Study. J Thromb Haemost 2004; 2: 619-22.
7. Carlson C, Eberle M, Rieder M, Yi Q, Kruglyak L, Nickerson D. Selecting a maximally informative set of single-nucleotide polymorphisms for association analyses using linkage disequilibrium. Am J Hum Genet 2004; 74: 106-20.
8. Seldin M, Shigeta R, Villoslada P, Selmi C, Tuomilehto J, Silva G, Belmont J, Klareskog L, Gregersen P. European population substructure: clustering of northern and southern populations. PLoS Genet 2006; 2: e143.
9. Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira M, Bender D, Maller J, Sklar P, de Bakker P, Daly M, PC S. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 2007; 81: 559-75.
10. Benjamini Y, Drai D, Elmer G, Kafkafi N, Golani I. Controlling the false discovery rate in behavior genetics research. Behav Brain Res 2001; 125: 279-84.
11. Storey J, Tibshirani R. Statistical significance for genomewide studies. Proc Natl Acad Sci USA 2003; 100: 9440-5.
12. Wakefield J. Reporting and interpretation in genome-wide association studies. Int J Epidemiol 2008; 37: 641-53.
13. Clayton D, Walker N, Smyth D, Pask R, Cooper J, Maier L, Smink L, Lam A, Ovington N, Stevens H, Nutland S, Howson J, Faham M, Moorhead M, Jones H, Falkowski M, Hardenbol P, Willis T, Todd J. Population structure, differential bias and genomic control in a large-scale, case-control association study. Nat Genet 2005; 37: 1243-6.
14. Park M, Hastie T. Penalized logistic regression for detecting gene interactions. Biostatistics 2008; 9: 30-50.
15. Cole P, MacMahon B. Attributable risk percent in case-control studies. Br J Prev Soc Med 1971; 25: 242-4.
16. Bruzzi P, Green S, Byar D, Brinton L, Schairer C. Estimating the population attributable risk for multiple risk factors using case-control data. Am J Epidemiol 1985; 122: 904-14.
17. Kahn M, O'Fallon W, Sicks J. Penalized Survival Models and Frailty. Technical Report Series No 54 Minnesota: Department of Health Science Research, Mayo Clinic Rochester, 1994.
18. Folsom A. Update on factor V Leiden association with venous thromboembolism in the LITE Study. Blood 2007; 109: 1336-7.
19. Smith N, Hindorff L, Heckbert S, Lemaitre R, Marciante K, Rice K, Lumley T, Bis J, Wiggins K, Rosendaal F, Psaty B. Association of genetic variations with nonfatal venous thrombosis in postmenopausal women. JAMA 2007; 297: 489-98.
20. Bezemer I, Bare L, Doggen C, Arellano A, Tong C, Rowland C, Catanese J, Young B, Reitsma P, Devlin J, FR R. Gene variants associated with deep vein thrombosis. JAMA 2008; 299: 1306-14.
21. Ohira T, Cushman M, Tsai M, Zhang Y, Heckbert S, Zakai N, Rosamond W, Folsom A. ABO blood group, other risk factors and incidence of venous thromboembolism: the Longitudinal Investigation of Thromboembolism Etiology (LITE). J Thromb Haemost 2007; 5: 1455-61.
22. Wu O, Bayoumi N, Vickers M, Clark P. ABO(H) blood groups and vascular disease: a systematic review and meta-analysis. J Thromb Haemost 2008; 6: 62-9.
23. Matsui T, Titani K, Mizuochi T. Structures of the asparagine-linked oligosaccharide chains of human von Willebrand factor. Occurrence of blood group A, B, and H(O) structures. J Biol Chem 1992; 267: 8723-31.
24. McGrath R, McKinnon T, Byrne B, O'Kennedy R, Terraube V, McRae E, Preston R, Laffan M, O'Donnell J. Expression of terminal alpha2-6-linked sialic acid on von Willebrand factor specifically enhances proteolysis by ADAMTS13. Blood 2010; 115: 2666-73.
25. Smith N, Chen M, Dehghan A, Strachan D, Basu S, Soranzo N, Hayward C, Rudan I, Sabater-Lleal M, Bis J, de Maat M, Rumley A, Kong X, Yang Q, Williams F, Vitart V, Campbell H, Malarstig A, Wiggins K, van Duijn C 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: 1382-92.
26. Kamphuisen P, Eikenboom J, Rosendaal F, Koster T, Blann A, Vos H, Bertina R. High factor VIII antigen levels increase the risk of venous thrombosis but are not associated with polymorphisms in the von Willebrand factor and factor VIII gene. Br J Haematol 2001; 115: 156-8.
27. Tsai A, Cushman M, Rosamond W, Heckbert S, Tracy R, Aleksic N, Folsom A. Coagulation factors, inflammation markers, and venous thromboembolism: the longitudinal investigation of thromboembolism etiology (LITE). Am J Med 2002; 113: 636-42.
28. Mercier B, Oger E, Le Gal G, Mottier D, Dominique C. Phenotypic but not allelic ABO blood group association with risk of venous thrombosis. Thromb Haemost 2005; 93: 388-9.
29. Morelli V, De Visser M, Vos H, Bertina R, Rosendaal FR. ABO blood group genotypes and the risk of venous thrombosis: effect of factor V Leiden. J Thromb Haemost 2005; 3: 183-5.
30. Tirado I, Mateo J, Soria J, Oliver A, Martínez-Sánchez E, Vallvé C, Borrell M, Urrutia T, Fontcuberta J. The ABO blood group genotype and factor VIII levels as independent risk factors for venous thromboembolism. Thromb Haemost 2005; 93: 468-74.
31. Paiva S, Sabino A, Carvalho M, Ribeiro D, Gomes K, Santos M, Oliveira M, Lages G, Dusse L, Fernandes A. Polymorphisms in exons 6 and 7 of the ABO locus and their association with venous thrombosis in young Brazilian patients. Blood Coagul Fibrinolysis 2009; 20: 122-8.
32. Tregouet D, Heath S, Saut N, Biron-Andreani C, Schved J, Pernod G, Galan P, Drouet L, Zelenika D, Juhan-Vague I, Alessi M, Tiret L, Lathrop M, Emmerich J, Morange P. Common susceptibility alleles are unlikely to contribute as strongly as the FV and ABO loci to VTE risk: results from a GWAS approach. Blood 2009; 113: 5298-303.
33. Colman R, White J, Scovell S, Stadnicki A, Sartor R. Kininogens are antithrombotic proteins In vivo. Arterioscler Thromb Vasc Biol 1999; 19: 2245-50.
34. Renne T, Pozgajova M, Gruner S, Schuh K, Pauer H, Burfeind P, Gailani D, Nieswandt B. Defective thrombus formation in mice lacking coagulation factor XII. J Exp Med 2005; 202: 271-84.
35. Wang X, Cheng Q, Xu L, Feuerstein G, Hsu M, Smith P, Seiffert D, Schumacher W, Ogletree M, Gailani D. Effects of factor IX or factor XI deficiency on ferric chloride-induced carotid artery occlusion in mice. J Thromb Haemost 2005; 3: 695-702.
36. Renne T, Nieswandt B, Gailani D. The intrinsic pathway of coagulation is essential for thrombus stability in mice. Blood Cells Mol Dis 2006; 36: 148-51.
37. Shariat-Madar Z, Mahdi F, Warnock M, Homeister J, Srikanth S, Krijanovski Y, Murphey L, Jaffa A, Schmaier AH. Bradykinin B2 receptor knockout mice are protected from thrombosis by increased nitric oxide and prostacyclin. Blood 2006; 108: 192-9.
38. Merkulov S, Zhang W, Komar A, Schmaier A, Barnes E, Zhou Y, Lu X, Iwaki T, Castellino F, Luo G, McCrae K. Deletion of murine kininogen gene 1 (mKng1) causes loss of plasma kininogen and delays thrombosis. Blood 2008; 111: 1274-81.
39. Cushman M, O'Meara E, Folsom A, Heckbert SR. Coagulation factors IX through XIII and the risk of future venous thrombosis: the Longitudinal Investigation of Thromboembolism Etiology. Blood 2009; 114: 2878-83.
40. Li Y, Bezemer I, Rowland C, Tong C, Arellano A, Catanese J, Devlin J, Reitsma P, Bare L, Rosendaal F. Genetic variants associated with deep vein thrombosis: the F11 locus. J Thromb Haemost 2009; 7: 1802-8.
41. Reiner A, Lange L, Smith N, Zakai N, Cushman M, Folsom A. Common hemostasis and inflammation gene variants and venous thrombosis in older adults from the Cardiovascular Health Study. J Thromb Haemost 2009; 7: 1499-505.
42. André P. P-selectin in haemostasis. [Review] [99 refs]. Br J Haematol 2004; 126: 298-306.
43. Volcik K, Catellier D, Folsom A, Matijevic N, Wasserman B, Boerwinkle E. SELP and SELPLG genetic variation is associated with cell surface measures of SELP and SELPLG: the Atherosclerosis Risk in Communities Carotid MRI Study. Clin Chem 2009; 55: 1076-82.
44. Marteau J, Lambert D, Herbeth B, Marie B, Droesch S, Tregouet D, Visvikis-Siest S. P-selectin polymorphisms' influences on P-selectin serum concentrations and on their familial correlation: the STANISLAS family study. J Thromb Haemost 2008; 6: 920-7.
45. Blann A, Noteboom W, Rosendaal F. Increased soluble P-selectin levels following deep venous thrombosis: cause or effect? Br J Haematol 2000; 108: 191-3.
46. Kyrle P, Hron G, Eichinger S, Wagner O. Circulating P-selectin and the risk of recurrent venous thromboembolism. Thromb Haemost 2007; 97: 880-7.
47. Uitte de Willige S, De Visser M, Vos H, Houwing-Duistermaat J, Rosendaal F, Bertina R. Selectin haplotypes and the risk of venous thrombosis: influence of linkage disequilibrium with the factor V Leiden mutation. J Thromb Haemost 2008; 6: 478-85.
48. Tu C, Su Y, Huang Y, Tsai M, Li L, Chen Y, Cheng C, Dai D, Yang RB. Localization and characterization of a novel secreted protein SCUBE1 in human platelets. Cardiovasc Res 2006; 71: 486-95.
49. Yang R, Ng C, Wasserman S, Colman S, Shenoy S, Mehraban F, Komuves L, Tomlinson J, Topper JN. Identification of a novel family of cell-surface proteins expressed in human vascular endothelium. J Biol Chem 2002; 277: 46364-73.
50. Dai D, Thajeb P, Tu C, Chiang F, Chen C, Yang R, Chen JJ. Plasma concentration of SCUBE1, a novel platelet protein, is elevated in patients with acute coronary syndrome and ischemic stroke. J Am Coll Cardiol 2008; 51: 2173-80.
51. Kimoto M, Nagasawa K, Miyake K. Role of TLR4/MD-2 and RP105/MD-1 in innate recognition of lipopolysaccharide. Scand J Infect Dis 2003; 35: 568-72.
52. Divanovic S, Trompette A, Atabani S, Madan R, Golenbock D, Visintin A, Finberg R, Tarakhovsky A, Vogel S, Belkaid Y, Kurt-Jones E, Karp C. Negative regulation of Toll-like receptor 4 signaling by the Toll-like receptor homolog RP105. Nat Immunol 2005; 6: 571-8.
53. Smeeth L, Cook C, Thomas S, Hall A, Hubbard R, Vallance P. Risk of deep vein thrombosis and pulmonary embolism after acute infection in a community setting. Lancet 2006; 367: 1075-9.
54. Foxman B, Brown P. Epidemiology of urinary tract infections: transmission and risk factors, incidence, and costs. Infect Dis Clin North Am 2003; 17: 227-41.
55. Delvaeye M, Conway E. Coagulation and innate immune responses: can we view them separately? Blood 2009; 114: 2367-74.