A new locus on chromosome 18 that influences normal variation in activated protein C resistance phenotype and factor VIII activity and its relation to thrombosis susceptibility

Blood

Volumn 101, Issue 1, 2003, Pages 163-167

  Soria, José Manuel ^a,b,c   Almasy, Laura ^a,b,c   Souto, Joan Caries ^a,b,c   Buil, Alfonso ^a,b,c   Martínez Sánchez, Elisabeth ^a,b,c   Mateo, José ^a,b,c   Borrell, Montserrat ^a,b,c   Stone, William H ^a,b,c   Lathrop, Mark ^a,b,c   Fontcuberta, Jordi ^a,b,c   Blangero, John ^a,b,c  

^a HOSPITAL DE LA SANTA CREU I SANT PAU   (Spain)

^b SOUTHWEST FOUNDATION FOR BIOMEDICAL RESEARCH   (United States)

^c CENTRE NATIONAL DE GÉNOTYPAGE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 5 LEIDEN; BLOOD CLOTTING FACTOR 8;

ACTIVATED PROTEIN C RESISTANCE; ADOLESCENT; ADULT; AGED; ARTICLE; BLOOD LEVEL; CHILD; CHROMOSOME 1; CHROMOSOME 18; CONTROLLED STUDY; DISEASE PREDISPOSITION; FEMALE; GENE LOCUS; GENE MUTATION; GENETIC LINKAGE; GENETIC POLYMORPHISM; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; HAPLOTYPE; HUMAN; INFANT; LINKAGE ANALYSIS; MAJOR CLINICAL STUDY; MALE; PHENOTYPE; PRIORITY JOURNAL; QUANTITATIVE TRAIT LOCUS; RISK FACTOR; STRUCTURAL GENE; THROMBOPHILIA; THROMBOSIS;

EID: 0037222236     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood-2002-06-1792     Document Type: Article

References (44)

1. Lane DA, Marinucci PM, Bauer KA, et al. Inherited thrombophilia: Part 2. Thromb Haemost. 1996;76:824-832.
2. Souto JC, Almasy L, Borrell M, et al. Genetic susceptibility to thrombosis and its relationship to physiological risk factors: the GAIT study. Am J Hum Genet. 2000;67:1452-1459.
3. Souto JC, Almasy L, Borrell M, et al. Genetic determinants of hemostasis phenotypes in Spanish families. Circulation. 2000;101:1546-1551.
4. Dahlback B, Carlsson M, Svensson PJ. Familial thrombophilia due to a previously unrecognized 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. Koster T, Rosendaal FR, de Ronde H, Briet E, Vandenbroucke JP, Bertina RM. Venous thrombosis due to poor anticoagulant response to activated protein C: Leiden Thrombophilia Study. Lancet. 1993;342:1503-1506.
6. Bertina RM, Koeleman BPC, Koster T, et al. Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature. 1994;369:64-67.
7. Rees DC, Cox M, Clegg JB. World distribution of factor V Leiden. Lancet. 1995;346:1133-1144.
8. Tirado I, Mateo J, Oliver A, Borrell M, Souto JC, Fontcuberta J. Patients with venous thromboembolism have a lower APC response than controls: Should this be regarded as a continuous risk factor for venous thrombosis? Haematologica. 1999;84:470-472.
9. de Visser MC, Rosendaal FR, Bertina RM. A reduced sensitivity for activated protein C in the absence of factor V Leiden increases the risk of venous thrombosis. Blood. 1999;93:1271-1276.
10. Roelse JC, Koopman MM, Buller HR, et al. Absence of mutations at the activated protein C cleavage sites of factor VIII in 125 patients with venous thrombosis. Br J Haematol. 1996;92:740-743.
11. Bokarewa MI, Falk G, Bremme K, Blomback M, Wiman B. Search for mutations in the genes for coagulation factors V and VIII with a possible predisposition to activated protein C resistance. Eur J Clin Invest. 1997;27:340-345.
12. Chan WP, Lee CK, Kwong YL, Lam CK, Liang R. A novel mutation of Arg306 of factor V gene in Hong Kong Chinese. Blood. 1998;91:1135-1139.
13. Williamson D, Brown K, Luddington R, Baglin C, Baglin T. Factor V Cambridge: a new mutation (Arg306→Thr) associated with resistance to activated protein C. Blood. 1998;91:1140-1144.
14. Bernardi F, Faioni EM, Castoldi E, et al. A factor V genetic component differing from factor V R506Q contributes to the activated protein C resistance phenotype. Blood. 1997;90:1552-1557.
15. Lunghi B, Iacoviello L, Gemmati D, et al. Detection of new polymorphic markers in the factor V gene: Association with factor V levels in plasma. Thromb Haemost. 1996;75:45-48.
16. Alhenc-Gelas M, Arnaud E, Nicaud V, et al. Venous thrombosis disease and the prothrombin, methylenetetrahydrofolate reductase and factor V genes. Thromb Haemost. 1999;81:506-510.
17. Faioni EM, Franchi F, Bucciarelli P, et al. Coinheritance of the HR2 haplotype in the factor V gene confers an increased risk of venous thromboembolism to carriers of factor V R506Q (factor V Leiden). Blood. 1999;94:3062-3066.
18. de Visser MC, Guasch JF, Kamphuisen PW, Vos HL, Rosendaal FR, Bertina RM. The HR2 haplotype of factor V: Effects on factor V levels, normalized activated protein C sensitivity ratios and the risk of venous thrombosis. Thromb Haemost. 2000;83:577-582.
19. Luddington R, Jackson A, Pannerselvam S, Brown K, Baglin T. The factor V R2 allele: Risk of venous thromboembolism, factor V levels and resistance to activated protein C. Thromb Haemost. 2000;83:204-208.
20. Kamphuisen PW, Eikenboom JC, Bertina RM. Elevated factor VIII levels and the risk of thrombosis. Arterioscler Thromb Vasc Biol. 2001;21:731-738.
21. Henkens CM, Bom VJ, van der Meer J. Lowered APC-sensitivity ratio related to increased factor VIII-clotting activity. Thromb Haemost. 1995;74:1198-1199.
22. Soria JM, Almasy L, Souto JC, et al. Linkage analysis demonstrated that the prothrombin G20210A mutation jointly influences plasma prothrombin levels and risk of thrombosis. Blood. 2000;95:2780-2785.
23. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 1988;6:1215.
24. Soria JM,Almasy L, Souto JC, et al. A quantitative-trait locus in the human factor XII gene influences both plasma factor XII levels and susceptibility to thrombotic disease. Am J Hum Genet. 2002;70:567-574.
25. Castoldi E, Lunghi B, Mingazzi F, Ioannou P, Marchetti G, Bernardi F. New coagulation factor V gene polymorphisms define a single and infrequent haplotype underlying the factor V Leiden mutation in Mediterranean populations and Indians. Thromb Haemost. 1997;78:1037-1041.
26. Cox MJ, Rees DC, Martinson JJ, Clegg JB. Evidence for a single origin of factor V Leiden. Br J Haematol. 1996;92:1022-1025.
27. Dyke B. PEDBYS: a Pedigree Data Management System. User's Manual. PGL Tech Rep 2. San Antonio, TX: Population Laboratory, Department of Genetics, Southwest Foundation for Biomedical Research; 1995.
28. Almasy L, Blangero JC. Multipoint quantitativetrait linkage analysis in general pedigrees. Am J Hum Genet. 1998;62:1198-1211.
29. Allison DB, Neale MC, Zannolli R, Schork NJ, Amos CI, Blangero J. Testing the robustness of the likelihood-ratio test in a variance-component quantitative-trait loci-mapping procedure. Am J Hum Genet. 1999;65:531-544.
30. Blangero J, Williams JT, Almasy L. Robust LOD scores for variance component-based linkage analysis. Genet Epidemiol. 2000;19(suppl 1):S8-S14.
31. Boehnke M, Lange K. Ascertainment and goodness of fit of variance component models for pedigree data. Prog Clin Biol Res. 1984;147:173-192.
32. Feingold E, Brown PO, Siegmund D. Gaussian models for genetic linkage analysis using complete high-resolution maps of identity by descent. Am J Hum Genet. 1993;53:234-251.
33. Williams JT, Van Eerdewegh P, Almasy L, Blangero J. Joint multipoint linkage analysis of multivariate qualitative and quantitative traits, I: Likelihood formulation and simulation results. Am J Hum Genet. 1999;65:1134-1147.
34. Hopper JL, Mathews JB. Extensions to multivariate normal models for pedigree analysis. Ann Hum Genet. 1982;4:373-383.
35. Almasy L, Williams JT, Dyer TD, Blangero J. QTL detection using combined linkage/disequilibrium analysis. Genet Epidemiol. 1999;17:531.
36. Amos CI. Robust variance-components approach for assessing genetic linkage in pedigrees. Am J Hum Genet. 1994;54:535-543.
37. Almasy L, Dyer TD, Blangero J. Bivariate quantitative trait linkage analysis: Pleiotropy versus coincident linkages. Genet Epidemiol. 1997;14:953-958.
38. Meade TW, Cooper JA, Stirling Y, Howarth DJ, Ruddock V, Miller GJ. Factor VIII, ABO blood group and the incidence of ischaemic heart disease. Br J Haematol. 1994;88:601-607.
39. Folsom AR, Wu KK, Rosamond WD, Sharrett AR, Chambless LE. Prospective study of hemostatic factors and incidence of coronary heart disease: the Atherosclerosis Risk in Communities (ARIC) Study. Circulation. 1997;96:1102-1108.
40. Folsom AR, Rosamond WD, Shahar E, et al. Prospective study of markers of hemostatic function with risk of ischemic stroke. The Atherosclerosis Risk in Communities (ARIC) Study Investigators. Circulation. 1999;100:736-742.
41. Wise RJ, Dorner AJ, Krane M, Pittman DD, Kaufman RJ. The role of von Willebrand factor multimers and propeptide cleavage in binding and stabilization of factor VIII. J Biol Chem. 1991;266:21948-21955.
42. Souto JC, Almasy L, Muniz-Diaz E, et al. Functional effects of the ABO locus polymorphism on plasma levels of von Willebrand factor, factor VIII, and activated partial thromboplastin time. Arterioscler Thromb Vasc Biol. 2000;20:2024-2028.
43. Weiss KM. Genetic Variation and Human Disease. Cambridge, England: Cambridge University Press; 1993.
44. Soria JM, Blangero J, Souto JC, et al. Identification of a large deletion and three novel mutations in exon 13 of the factor V gene in a Spanish family with normal factor V coagulant and anticoagulant properties. Hum Genet. 2002;111:59-65.