Multilocus genetic risk scores for venous thromboembolism risk assessment

Journal of the American Heart Association

Volumn 3, Issue 5, 2014, Pages

  Soria, José Manuel ^a   Morange, Pierre Emmanuel ^b   Vila, Joan ^c,d   Souto, Juan Carlos ^a   Moyano, Manel ^e   Trégouët, David Alexandre ^f   Mateo, José ^a   Saut, Noémi ^f   Salas, Eduardo ^e   Elosua, Roberto ^c  

^a BIOMEDICAL RESEARCH INSTITUTE SANT PAU IIB SANT PAU   (Spain)

^b AIX MARSEILLE UNIVERSITY   (France)

^c HOSPITAL DEL MAR   (Spain)

^d CIBER EPIDEMIOLOGÍA Y SALUD PÚBLICA CIBERESP   (Spain)

^e Gendiagexe   (Spain)

^f INSERM   (France)

Author keywords

Genetics; Risk factors; Tests; Thrombosis; Veins

Indexed keywords

ANTITHROMBIN III; BLOOD CLOTTING FACTOR 5 LEIDEN; PROTHROMBIN; BLOOD CLOTTING FACTOR 5;

ADULT; AGED; ARTICLE; CLINICAL EVALUATION; CONTROLLED STUDY; FEMALE; FVL GENE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; HUMAN; INTERMETHOD COMPARISON; MAJOR CLINICAL STUDY; MALE; MARKER GENE; PREDICTION; PRIORITY JOURNAL; PROTHROMBIN GENE; RISK ASSESSMENT; SCORING SYSTEM; SERPINA10 GENE; SERPINC1 GENE; SINGLE NUCLEOTIDE POLYMORPHISM; THROMBO INCODE SCORE; VENOUS THROMBOEMBOLISM; CASE CONTROL STUDY; COMPARATIVE STUDY; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETIC VARIATION; GENETICS; GENOTYPE; INCIDENCE; MIDDLE AGED; MULTILOCUS SEQUENCE TYPING; MUTATION; ODDS RATIO; PREDICTIVE VALUE; PROCEDURES; REGRESSION ANALYSIS; SPAIN;

ADULT; CASE-CONTROL STUDIES; FACTOR V; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; GENETIC VARIATION; GENOTYPE; HUMANS; INCIDENCE; MALE; MIDDLE AGED; MULTILOCUS SEQUENCE TYPING; MUTATION; ODDS RATIO; PREDICTIVE VALUE OF TESTS; PROTHROMBIN; REGRESSION ANALYSIS; RISK ASSESSMENT; SPAIN; VENOUS THROMBOEMBOLISM;

EID: 84922931517     PISSN: None     EISSN: 20479980     Source Type: Journal    
DOI: 10.1161/JAHA.114.001060     Document Type: Article

References (48)

1. Cohen AT, Agnelli G, Anderson FA, Arcelus JI, Berqvist D, Brech JG, Greer IA, Heit JA, Hutchinson JL, Kakkar AK, Mottier D, Oger E, Samana MM, Spannagl M; for the VTE Impact Assessment Group in Europe (VITAE). Venous thromboembolism (VTE) in Europe. Thromb Haemost. 2007;98:756-764.
2. Anderson FA Jr, Zayaruany M, Heit JA, Fidan D, Cohen AT. Estimated annual numbers of US acute-care hospital patients at risk for venous thromboembolism. Am J Hematol. 2007;82:777-782.
3. Stein PD, Matta F. Epidemiology and incidence: the scope of the problem and risk factors for development of venous thromboembolism. Crit Care Clin. 2011;27:907-932.
4. Dobesh PP. Economic burden of venous thromboembolism in hospitalized patients. Pharmacotherapy. 2009;29:943-953.
5. Souto JC, Almasy L, Borrell M, Blanco-Vaca F, Mateo J, Soria JM, 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 Human Genet. 2000;67:1452-1459
6. Reitsma PH. Genetic heterogeneity in hereditary thrombophilia. Haemostasis. 2000;30(suppl 2):1-10.
7. Kanaji T, Okamura T, Osaki K, Kuroiwa M, Shimoda K, Hamasaki N, Niho Y. A common genetic polymorphism (46 C to T substitution) in the 50-untranslated region of the coagulation factor XII gene is associated with low translation efficiency and decrease in plasma factor XII level. Blood. 1998;91:2010-2014.
8. Van HylckamaVlieg A, Komansin N, Ariëns RAS, Poort SR, Grant PJ, Bertina RM, Rossendaal FR. Factor XIII Val34Leu polymorphism, factor XIII antigen levels and activity and the risk of deep venous thrombosis. BJH. 2002;119:169-175.
9. Williamson D., Brown K, Luddington R, Baglin C, Baglin T. Factor V Cambridge: a new mutation (Arg306Thr) associated with resistance to activated protein C. Blood 1998;91:1140-1144.
10. Norstrom E, Thorelli E, Dahlbäck B. Functional characterization of recombinant FV Hong Kong and FV Cambridge. Blood. 2002;100:524-530.
11. Bertina R, Koeleman BPC, Koster T, Rosendaal FR, Driven RJ, De Ronde H, Van der Velden PA, Reitsma PH. Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature. 1994;369:64-67.
12. Poort SR, Rosendaal FR, Reitsma PH, Bertina RM. A common genetic variation in the 30-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis. Blood. 1996;88:3698-3703.
13. Corral J, Gonzalez-Conejero R, Soria JM, Gonzalez-Porras JR, Pérez-Ceballos E, Lecumberri R, Roldán V, Souto JC, Miñano A, Hernández-Espinosa D, Alberca I, Fontcuberta J, Vicente V. A nonsense polymorphism in the protein Zdependent protease inhibitor increases the risk for venous thrombosis. Blood. 2006;108:177-183.
14. Corral J, Hernandez-Espinosa D, Soria JM, González-Conejero R, Ordonez A, González-Porras JR, Pérez-Ceballos E, Lecumberri R, Sánchez I, Roldan V, Mateo J, Minano A, González M, Alberca I, Fontcuberta J, Vicente V. Antithrombin Cambridge II (A384S): an nderstimated genetic risk factor for venous thrombosis. Blood. 2007;109:4258-4263.
15. O'Donnell J, Boulton FE, Manning RA, Laffan MA. Amount of H antigen expressed on circulating von Willebrand factor is modified by ABO blood group genotype and is a major determinant of plasma von Willebrand factor antigen levels. Arterioscler Thromb Vasc Biol. 2002;22:335-341.
16. Morange PE, Tregouet DA. Lessons from genome-wide association studies in venous thrombosis. J Thromb Haemost. 2011;9 (suppl 1): 258-264.
17. Tang W, Teichert M, Chasman DI, Heit JA, Morange PE, Li G, Pankratz N, Leebeek FW, Paré G, de Andrade M, Tzourio C, Psaty BM, Basu S, Ruiter R, Rose L, Armasu SM, Lmley T, Heckbert SR, Uitterlinde AG, Lathrop M, Rice KM, Cushman M, Hofman A, Lambert JC, Glazer NL, Pankow JS, Witterman JC, Amouyel P, Bis JC, Bovill EG, Kong X, Tracy RP, Boerwinkle E, Rotter JI, Trégouët DA, Loth DW, Stricker BHC, Ridker PM, Folsom AR, Smith NL. A genome-wide association study for venous thromboembolism: the extended cohorts for heart ad aging research in genomic epidemiology (CHARGE) consortium. Genet Epidemiol. 2013;37:512-521.
18. Sabater-Lleal M, Martinez-Perez A, Buil A, Folkersen L, Souto JC, Bruzelius M, Borrell M, Odeberg J, Silveira A, Eriksson P, Almasy L, Hamsten A, Soria JM. A genome-wide association study identifies KNG1 as a genetic determinant of plasma factor XI level and activated partial thromboplastin time. Arterioscler Thromb Vasc Biol. 2012;32:2008-2016.
19. De Haan HG, Bezemer ID, Doggen CJM, Le Cessie S, Reitsma PH, Arellano AR, Tong CH, Devlin JJ, Bare LA, Rosendaal FR, Vossen CY. Multiple SNP testing improves risk prediction of first venous thrombosis. Blood. 2012;120:656-663.
20. Tirado I, Soria JM, Mateo J, Oliver A, Souto JC, Santamaria A, Felices R, Borrell M, Fontcuberta J. Association after linkage analysis indicates that homozygosity for the 46C>T polymorphism in the F12 gene is a genetic risk factor for venous thrombosis. Thromb Haemost. 2004;91:899-904.
21. Trégouët DA, Heath S, Saut N, Biron-Andreani C, Schved JF, Pernod G, Galan P, Drouet L, Zelenika D, Juhan-Vague I, Alessi MC, Tiret L, Lathrop M, Emmerich J, Morange PE. Common susceptibility alleles are unlikely to contribute as strongly as the FV and AB0 loci to VTE risk: results from a GWAS approach. Blood. 2009;113:5298-5303.
22. Yip SP. Single-tube multiplex PCR-SSCP analysis distinguishes 7 common ABO alleles and readily identifies new alleles. Blood. 2000;95:1487-1492.
23. Juul K, Tybjaerg-Hansen A, Schnohr P, Nordestgaard BG. Factor V Leiden and the risk for venous thromboembolism in the adult Danish population. Ann Intern Med. 2004;140:330-337.
24. Wu O, Robertson L, Twaddle S, Lowe G, Clark P, Walker I, Brenkel I, Greaves M, Langhorne P, Regan L, Greer I; for The Thrombosis: Risk and Economic Assessment of Thrombophilia Screening-TREATS-Study. Screening for thrombophilia in high-risk situations: a meta-analysis and cost-effectiveness analysis. Br J Haematol. 2005;131:80-90.
25. de Van Water N, Tan T, Ashton F, O'Grady A, Day T, Browett P, Ockelford P, Harper P. Mutations within the protein Z-dependent protease inhibitor gene are associated with venous thromboembolic disease: a new form of thrombophilia. Br J Haematol. 2004;127:190-194.
26. Reuner KH, Jenetzky E, Aleu A, Litfin F, Mellado P, Kloss M, Jüttler E, Grau AJ, Rickmann H, Patscheke H, Lichy C. Factor XII c46T gene polymorphism and the risk of cerebral venous thrombosis. Neurology. 2008;70:129-132.
27. Cochery-Nouvellon E, Mercier E, Lissalde-Lavigne G, Daurès J-P, Quéré I, Dauzat M, Marès P, Gris C. Homozygosity for the C46T polymorphism of the F12 gene is a risk factor for venous thrombosis during the first pregnancy. J Thromb Haemost. 2007;5:700-707.
28. Catto AJ, Kohler HP, Coore J, Mansfield MW, Stickland MH, Grant PJ. Association of a common polymorphism in the factor XIII gene with venous thrombosis. Blood. 1999;93:906-908.
29. Wells PS, Anderson JL, Scarvelis DK, Doucette SP, Gagnon F. Factor XIII Val34Leu variant is protective against venous thromboembolism: a HuGE review and meta-analysis. Am J Epidemiol. 2006;164:101-109.
30. Arellano AR, Bezemer ID, Tong CH, Catanese JJ, Devlin JJ, Reitsma PH, Bare LA, Rosendaal FR. Gene variants associated with venous thrombosis: confirmation in the MEGA study. J Thromb Haemost. 2010;8:1132-1134.
31. Austin H, De Staercke C, Lally C, Bezemer ID, Rosendaal FR, Hooper WC. New gene variants associated with venous thrombosis: a replication study in White and black Americans. J Thromb Haemost. 2011;9:489-495.
32. Bezemer ID, Bare LA, Doggen CJ, Arellano AR, Tong C, Rowland CM, Catanese J, Young BA, Reitsma PH, Devlin JJ, Rosendaal FR. Gene variants associated with deep vein thrombosis. JAMA. 2008;299:1306-1314.
33. Uitte de Willige S, de Visser MC, Houwing-Duistermaat JJ, Rosendaal FR, Vos HL, Bertina RM. Genetic variation in the fibrinogen gamma gene increases the risk of deep venous thrombosis by reducing plasma fibrinogen gamma levels. Blood. 2005;106:4176-7183.
34. Grünbacher G, Weger W, Max-Neuhold E, Pilger E, Köppel H, Wascher T, März W, Renner W. The fibrinogen gamma (FGG) 10034C>T polymorphism is associated with venous thrombosis. Thromb Res. 2007;121:33-36.
35. Tirado I, Mateo J, Soria JM, 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;93:468-474.
36. Morange PE, Oudot-Mellakh T, Cohen W, Germain M, Saut N, Antoni G, Alessi MC, Bertrand M, Dupuy AM, Letenneur L, Lathrop M, Lopez LM, Lambert JC, Emmerich J, Amouyel P, trégoüet DA. KNG1 ile581Thr and susceptibility to venous thrombosis. Blood. 2011;117:3692-3694.
37. Hlatky MA, Greenland P, Arnett DK, Ballantyne CM, Criqui MH, Elkind MSV, Go AS, Harrell FE Jr, Hong Y, Howard BV, Howard VJ, Hsue PY, Kramer CM, McConnell JP, Normand SLT, O'Donnell CJ, Smith SC Jr, Wilson PWF; on behalf of the American Heart Association Expert Panel on Subclinical Atherosclerotic Disease and Emerging risk factors and the Stroke Council. Criteria for evaluation of novel cardiovascular risk: a scientific statement from the American Heart Association. Circulation. 2009;119:2408-2416.
38. Hanley JA, Haijian-Tilaki KO. Sampling variability of nonparametric estimates of the areas under receiver operating characteristic curves: an update. Acad Radiol. 1997;4:49-58.
39. Pencina MJ, D'Agostino RB Sr, D'Agostino RB Jr, Vasan RS. Evaluating the added predictive ability of a new marker: from area under the ROC curve to reclassification and beyond. Stat Med. 2008;27:157-172.
40. Pencina MJ, D'Agostino RB, Pencina KM, Janssens AC, Greeland P. Interpreting incremental value of markers added to risk prediction models. Am J Epidemiol. 2012;176:473-481.
41. Lalkhen AG, McCluskey A. Clinical tests: sensitivity and specificity. Cont Educ Anaesth Crit Care Pain. 2008;8:221-223.
42. R Development Core Team. R: a Language and Environment for Statistical Computing. Vienna, Austria: R Foundation for Statistical Computing; 2010. Available at: http://www. R-roject.org/. Accessed October 17, 2014.
43. Varga EA, Kujovich JL. Management of inherited thrombophilia: guide for genetics professionals. Clin Genet. 2012;81:7-17.
44. Manolio TA, Collins FS, Cox NJ, Goldstein DB, Hindorff LA, Hunter DJ, McCarthy MI, Ramos EM, Cardon LR, Chakravarti A, Cho JH, Guttmacher AE, Kong A, Kruglyak L, Mardis E, Rotimi CN, Slatkin M, Valle D, Whittemore AS, Boehnke M, Clark AG, Eichler EE, Gibson G, Haines JL, Mackay TF, McCarroll SA, Visscher PM. Finding the missing heritability of complex diseases. Nature. 2009;461:747-753.
45. Antoni G, Morange PE, Luo Y, Saut N, Burgos G, Heath S, Germain M, Biron-Andreani C, Schved JF, Pernod G, Galan P, Zelanika D, Alessi MA, Drouet L, Visvikis-Siest S, Wells PS, Lathrop M, Emmerich J, Tregouet DA, Gagnon F. A multi-stage multi-design strategy provides strong evidence that the BAI3 locus is associated with early-onset venous thromboembolism. J Thromb Hemost. 2010;8:2671-2679.
46. Wu C, Dwivedi DJ, Pepler L, Lysov Z, Waye J, Julian J, Desch K, Ginsburg D, Weitz JI, Kearon C, Liaw P. Targeted gene sequencing identifies variants in the protein C and endothelial protein C receptor genes in patients with unprovoked venous thromboembolism. Arterioscler Thromb Vasc Biol. 2013;33:2674-2681.
47. Zöller B, Li X, Sundquist J, Sundquist K. Age- and gender-specific familial risks for venous thromboembolism: a nationwide epidemiological study base don hospitalizations in Sweden. Circulation. 2011;124:1012-1020.
48. Antithrombotic therapy and prevention of thrombosis, 9th ed: American College of Chest Physicians Evidence-Based Clinical Practice Guidelines. Chest. 2012;14(2 suppl):e1S-e801S.