A single genetic origin for a common Caucasian risk factor for venous thrombosis

Blood

Volumn 89, Issue 2, 1997, Pages 397-402

  Zivelin, Ariella ^b   Griffin, John H ^b   Xu, Xiao ^b   Pabinger, Ingrid ^b   Samama, Michel ^b   Conard, Jacqueline ^b   Brenner, Benjamin ^b   Eldor, Amiram ^b   Seligsohn, Uri ^a  

^a TEL AVIV UNIVERSITY   (Israel)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 5;

ARTICLE; CAUCASIAN; CONTROLLED STUDY; DNA POLYMORPHISM; GENE MUTATION; GENETIC RISK; HAPLOTYPE; HOMOZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; PRIORITY JOURNAL; VEIN THROMBOSIS;

ARGININE; EUROPEAN CONTINENTAL ANCESTRY GROUP; FACTOR V; HAPLOTYPES; HUMANS; POINT MUTATION; POLYMORPHISM, GENETIC; RISK FACTORS; THROMBOPHLEBITIS;

EID: 0031023757     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (50)

1. Esmon CT: The regulation of natural anticoagulant pathways. Science 235:1348, 1987
2. Dahlbäck B: The protein C anticoagulant system: Inherited defects as basis for venous thrombosis. Thromb Res 77:1, 1995
3. Dahlbäck 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 90:1004, 1993
4. Griffin JH, Evatt B, Wideman C, Fernández JA: Anticoagulant protein C pathway defective in majority of thrombophilic patients. Blood 82:1989, 1993
5. Svensson PJ, Dahlbäck B: Resistance to activated protein C as a basis for venous thrombosis. N Engl J Med 330:517, 1994
6. Koster T, Rosendaal FR, deRonde H, Briet E, Vandenbroucke JP, Bertina R: Venous thrombosis due to poor anticoagulant response to activated protein C: Leiden thrombophilia study. Lancet 342:1503, 1993
7. Greengard JS, Sun X, Xu X, Fernández JA, Griffin JH, Evatt B: Activated protein C resistance caused by Arg506Gln mutation in factor Va. Lancet 343:1361, 1994
8. Bertina RM, Koeleman BPC, Koster T, Rosendaal FR, Dirven RJ, de Ronde H, van der Velden PA, Reitsma PH: Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature 369:64, 1994
9. 506 of factor V. Lancet 343:1535, 1994
10. Sun X, Evatt B, Griffin JH: Blood coagulation factor Va abnormality associated with resistance to activated protein C in venous thrombophilia. Blood 83:3120, 1994
11. 506-factor V. Blood 85:3405, 1995
12. R506Q. J Biol Chem 270:4053, 1995
13. Kalafatis M, Rand MD, Mann KG: The mechanism of inactivation of human factor V and human factor Va by activated protein C. J Biol Chem 269:31869, 1994
14. Gladson CL, Scharrer I, Hach V, Beck KH, Griffin JH: The frequency of type I heterozygous protein S and protein C deficiency in 141 unrelated young patients with venous thrombosis. Thromb Haemost 59:18, 1988
15. Ben-Tal O, Zivelin A, Seligsohn U: The relative frequency of hereditary thrombotic disorders among 107 patients with thrombophilia in Israel. Thromb Haemost 61:50, 1989
16. Allaart CF, Poort SR, Rosendaal FR, Reitsma PH, Bertina RM, Briet E: Increased risk of venous thrombosis in carriers of hereditary protein C deficiency defect. Lancet 341:134, 1993
17. Malm J, Laurell M, Nilsson IM, Dahlbäck B: Thromboembolic disease - Critical evaluation of laboratory investigation. Thromb Haemost 68:7, 1992
18. Koeleman BPC, Reitsma PH, Allaart CF, Bertina RM: Activated protein C resistance as an additional risk factor for thrombosis in protein C-deficient families. Blood 84:1031, 1994
19. Gandrille S, Greengard JS, Alhenc-Gelas M, Juhan-Vague I, Abgrall JF, Jude B, Griffin JH, Aiach M: Incidence of activated protein C resistance caused by the ARG 506 GLN mutation in factor V in 113 unrelated symptomatic protein C deficient patients. Blood 86:219, 1995
20. Zöller B, Berntsdotter A, García de Frutos P, Dahlbäck B: Resistance to activated protein C as an additional genetic risk factor in hereditary deficiency of protein S. Blood 85:3518, 1995
21. Koeleman BPC, van Rumpt D, Hamulyák K, Reitsma PH, Bertina RM: Factor V Leiden: An additional risk factor for thrombosis in protein S deficient families? Thromb Haemost 74:580, 1995
22. Rees DC, Cox M, Clegg JB: World distribution of factor V Leiden. Lancet 346:1133, 1995
23. Ferrer-Antunes C, Palmeiro A, Green F, Rosa H, Feliciano B, Silva E: Polymorphisms of fibrinogen, factor VII and factor V genes: Comparison of allele frequencies in different ethnic groups. Thromb Haemost 73:1379, 1995 (abstr)
24. Fujimura H, Kambayashi J, Monden M, Kato H, Miyata T: Coagulation factor V Leiden mutation may have a racial background (letter to the editor). Thromb Haemost 74:1381, 1995
25. Kodaira H, Ishida F, Ito T, Ichikawa N, Shimodaira S, Takamiva O, Furihata K, Kiyosawa K, Kitano K: Arg 506 Gln factor V mutation is uncommon in eastern Asian populations. Blood 86:917a, 1995 (abstr, suppl 1)
26. Gou D, Naipal A, Reitsma PH: Activated protein C resistance (letter to the editor). Lancet 347:59, 1996
27. 506-Gln mutation of factor V gene (letter to the editor). Thromb Haemost 75:522, 1996
28. de Maat MPM, Kluft C, Jespersen J, Gram J: World distribution of factor V Leiden mutation (letter to the editor). Lancet 347:58, 1996
29. Arruda VR, von Zuben PM, Soares MCP, Menezes RC, Annichino-Bizzacchi JM, Costa FF: Low incidence of ARG506 → Gln mutation in the factor V gene among Amazonian Indians and Brazilian black population. Blood 86:204a, 1995 (abstr, suppl 1)
30. 506 → glutamine mutation. Stroke 27:1163, 1996
31. Cripe LD, Moore KD, Kane WH: Structure of the gene for human coagulation factor V. Biochemistry 31:3777, 1992
32. Kane WH, Davie EW: Cloning of a cDNA coding for human factor V, a blood coagulation factor homologuos to factor VIII and ceruloplasmin. Proc Natl Acad Sci USA 83:6800, 1986
33. Jenny RJ, Pittman DD, Toole JJ, Kriz RW, Aldape RA, Hewick RM, Kaufman RJ, Mann KG: Complete cDNA and derived amino acid sequence of human factor V. Proc Natl Acad Sci USA 84:4846, 1987
34. Kane WH, Ichinose A, Hagen FS, Davie EW: Cloning of cDNA's coding for the heavy chain region and connecting region of human factor V, a blood coagulation factor with four types of internal repeats. Biochemistry 26:6508, 1987
35. Kane W, Davie E: Blood coagulatoin factors V and VIII: Structural and functional similarities and their relationship to hemorrhagic and thrombotic disorders. Blood 71:539, 1988
36. Cox MJ, Rees DC, Martinson JJ, Clegg JB: Evidence for a single origin of factor V Leiden. Br J Haematol 92:1022, 1996
37. Risch N, de Leon D, Ozelius L, Kramer P, Almasy L, Singer B, Fahn S, Breakefield X, Bressman S: Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population. Nat Genet 9:152, 1995
38. Vigilant L, Stoneking M, Harpending H, Hawkes K, Wilson AC: African populations and the evolution of human mitochondrial DNA. Science 253:1503, 1991
39. Horai S, Hayasaka K, Kondo R, Tsugane K, Takahata N: Recent African origin of modern humans revealed by complete sequences of hominoid mitochondrial DNAs. Proc Natl Acad Sci USA 92:532, 1995
40. Dont RL, Akashi H, Gilbert W: Absence of polymorphism at the ZFY locus on the human Y chromosome. Science 268:1183, 1995
41. Goldstein DB, Linares AR, Cavalli-Sforza LL, Feldman MW: Genetic absolute dating based on microsatellites and the origin of modern humans. Proc Natl Acad Sci USA 92:6723, 1995
42. Hammer MF: A recent common ancestry for human Y chromosomes. Nature 378:376, 1995
43. Tishkoff SA, Dietzsch E, Speed W, Pakstis AJ, Kidd JR, Cheung K, Bonné-Tamir B, Santachiara-Benerecetti AS, Moral P, Krings M, Pääbo S, Watson E, Risch N, Jenkins T, Kidd KK: Global patterns of linkage disequilibrium at the CD4 locus and modern human origins. Science 271:1380, 1996
44. Cavalli-Sforza LL, Menozzi P, Piazza A: The History and Geography of Human Genes. Princeton, NJ, Princeton, 1994
45. Rosendaal FR, Koster T, Vandenbroucke JP, Reitsma PH: High risk of thrombosis in patients homozygous for factor V Leiden (activated protein C resistance). Blood 85:1504, 1995
46. Greengard JS, Eichinger S, Griffin JH, Bauer KA: Brief report: Variability of thrombosis among homozygous siblings with resistance to activated protein C due to an Arg → Gln mutation in the gene for factor V. N Engl J Med 331:1559, 1994
47. Simioni P, Scarano L, Gavasso S, Sardella C, Girolami B, Scudeller A, Girolami A: Prothrombin fragment 1 + 2 and thrombinantithrombin complex levels in patients with inherited APC resistance due to factor V Leiden mutation. Br J Haematol 92:435, 1996
48. Martinelli I, Bottasso B, Duca F, Faioni E, Mannucci PM: Heightened thrombin generation in individuals with resistance to activated protein C. Thromb Haemost 75:703, 1996
49. 506 to Gln mutation in the factor V gene (APC-resistance) and/or inherited protein S deficiency. Thromb Haemost 75:270, 1996
50. Nichols WC, Amano K, Cacheris TM, Figueiredo MS, Michaelides K, Schwaab R, Hoyer L, Kaufman RJ, Ginsburg D: Moderation of hemophilia A phenotype by the factor V R506Q mutation. Blood 88:1183, 1996