Thromb Haemost 2000; 83(01): 20-22
DOI: 10.1055/s-0037-1613750
Commentary
Schattauer GmbH

Factor II G20210A and Factor V G1691A Gene Mutations and Peripheral Arterial Occlusive Disease

Wilfried Renner
1   From the Department of Medicine, Karl Franzens University, Graz, Austria
,
Herwig Köppel
1   From the Department of Medicine, Karl Franzens University, Graz, Austria
,
Marianne Brodmann
1   From the Department of Medicine, Karl Franzens University, Graz, Austria
,
Edmund Pabst
1   From the Department of Medicine, Karl Franzens University, Graz, Austria
,
Katharina Schallmoser
1   From the Department of Medicine, Karl Franzens University, Graz, Austria
,
Hermann Toplak
1   From the Department of Medicine, Karl Franzens University, Graz, Austria
,
Thomas C. Wascher
1   From the Department of Medicine, Karl Franzens University, Graz, Austria
,
Ernst Pilger
1   From the Department of Medicine, Karl Franzens University, Graz, Austria
› Author Affiliations
Further Information

Publication History

Received 23 March 1999

Accepted after revision 23 June 1999

Publication Date:
06 December 2017 (online)

Summary

Background

G to A mutations at positions 20210 of the prothrombin gene (F2) and 1691 of the factor V gene (F5) are established risk factors for venous thrombosis. Several factors associated with coagulation and/or fibrinolysis have been associated with arterial occlusive disease, but the role of F2 20210A and F5 1691A for arterial occlusive disease remains unclear.

Objective

To investigate if F2 20210A and F5 1691A are associated with peripheral arterial occlusive disease (PAOD).

Methods and Results

We analyzed the prevalence of F2 20210A and F5 1691A alleles in 336 patients with documented PAOD at Fontaine stage II – IV and 300 controls without vascular disease. Allele frequencies in patients and controls were 0.013 and 0.022 for F2 20210A, and 0.042 and 0.045 for F5 1691, respectively, both differences being not statistically significant.

Conclusion

Our data suggest that mutations F2 G20210A and F5 G1691A are not associated with PAOD.

 
  • References

  • 1 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 U S A 1993; 90: 1004-8.
  • 2 Bertina RM, Koeleman BP, 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 1994; 369: 64-7.
  • 3 Poort SR, Rosendaal FR, Reitsma PH, Bertina RM. A common genetic variation in the 3’-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis. Blood 1996; 88: 3698-703.
  • 4 Rosenberg RD, Aird WC. Thrombosis. In: Haber E. editor. Molecular Cardiovascular Medicine. New York: Scientific American; 1995: 115-32.
  • 5 Doggen CJM, Cats VM, Bertina RM, Rosendaal FR. Interaction of coagulation defects and cardiovascular risk factors : Increased risk of myocardial infarction associated with factor V Leiden or prothrombin 20210A. Circulation 1998; 97: 1037-41.
  • 6 Rosendaal FR, Siscovick DS, Schwartz SM, Psaty BM, Raghunathan TE, Vos HL. A common prothrombin variant (20210 G to A) increases the risk of myocardial infarction in young women. Blood 1997; 90: 1747-50.
  • 7 Arruda VR, Siquiera LH, Chiaparini LC, Coelho OR, Mansur AP, Ramires A, Annichino JMBizzacchi. Prevalence of the prothrombin gene variant 20210 G → A among patients with myocardial infarction. Cardiovasc Res 1998; 37: 42-5.
  • 8 Watzke HH, Schuttrumpf J, Graf S, Huber K, Panzer S. Increased prevalence of a polymorphism in the gene coding for human prothrombin in patients with coronary heart disease. Thromb Res 1997; 87: 521-6.
  • 9 Gardemann A, Arsic T, Katz N, Tillmanns H, Hehrlein FW, Haberbosch W. The Factor II G20210A and Factor V G1691A Gene Transitions and Coronary Heart Disease. Thromb Haemost 1999; 81: 208-13.
  • 10 Eikelboom JW, Baker RI, Parsons R, Taylor RR, van Bockxmeer FM. No association between the 20210 G/A prothrombin gene mutation and premature coronary artery disease. Thromb Haemost 1998; 80: 878-80.
  • 11 Corral A, GonzalezConejero R, Lozano ML, Rivera J, Heras I, Vicente V. The venous thrombosis risk factor 20210 A allele of the prothrombin gene is not a major risk factor for arterial thrombotic disease. Brit J Haematol 1997; 99: 304-7.
  • 12 Prohaska W, Schmidt M, Mannebach H, Gleichmann U, Kleesiek K. The prevalence of the prothrombin 20210 G→A mutation is not increased in angiographically confirmed coronary artery disease. Thromb Haemost 1999; 81: 161-2.
  • 13 Humpert PM, Isermann B, Rudofsky G, Ziegler R, Bierhaus A, Ritz E, Nawroth PP. The 20210 G to A prothrombin polymorphism and late complications in type 1 diabetes mellitus. Thromb Haemost 1999; 81: 164.
  • 14 Rosendaal FR, Siscovick DS, Schwartz SM, Beverly RK, Psaty BM, Longstreth Jr WT, Raghunathan TE, Koepsell TD, Reitsma PH. Factor V Leiden (resistance to activated protein C) increases the risk of myocardial infarction in young women. Blood 1997; 89: 2817-21.
  • 15 März W, Seydewitz H, Winkelmann B, Chen M, Nauck M, Witt I. Mutation in coagulation factor V associated with resistance to activated protein C in patients with coronary artery disease. Lancet 1995; 345: 526.
  • 16 Holm J, Zoller B, Berntorp E, Erhardt L, Dahlbäck B. Prevalence of factor V gene mutation amongst myocardial infarction patients and healthy controls is higher in Sweden than in other countries. J Intern Med 1996; 239: 221-6.
  • 17 Ridker PM, Hennekens CH, Lindpaintner K, Stampfer MJ, Eisenberg PR, Miletich JP. Mutation in the gene coding for coagulation factor V and the risk of myocardial infarction, stroke, and venous thrombosis in apparently healthy men. N Engl J Med 1995; 332: 912-7.
  • 18 Prohaska W, Mannebach H, Schmidt M, Gleichmann U, Kleesiek K. Evidence against heterozygous coagulation factor V 1691 G→A mutation with resistance to activated protein C being a risk factor for coronary artery disease and myocardial infarction. J Mol Med 1995; 73: 521-4.
  • 19 Sampram ES, Lindblad B, Dahlbäck B. Activated protein C resistance in patients with peripheral vascular disease. J Vasc Surg 1998; 28: 624-9.
  • 20 Foley PW, Irvine CD, Standen GR, Morse C, Smith FT, McGrath C, Baird RN, Lamont PM. Activated protein C resistance, factor V Leiden and peripheral vascular disease. Cardiovasc Surg 1997; 05: 157-60.
  • 21 Irvine CD, Foley PW, Standen GR, Morse C. Should patients with atherosclerosis or peripheral vascular disease be stratified for factor V Leiden?. Blood 1997; 90: 2114.
  • 22 Sanchez LA, Veith FJ. Diagnosis and treatment of chronic lower extremity ischemia. Vasc Med 1998; 03: 291-9.
  • 23 Alberti GMM, Zimmet PZ. Definition, diagnosis and classification of diabetes mellitus and its complications part 1: Diagnosis and classification of diabetes mellitus – Provisional repo.
  • 24 Rosendaal FR, Doggen CJ, Zivelin A, Arruda VR, Aiach M, Siscovick DS, Hillarp A, Watzke HH, Bernardi F, Cumming AM, Preston FE, Reitsma PH. Geographic distribution of the 20210 G to A prothrombin variant. Thromb Haemost 1998; 79: 706-8.
  • 25 Fodinger M, Mannhalter C, Pabinger I, Koizar D, Rintelen C, Horl WH, Sunder-Plassmann G. Resistance to activated protein C (APC): mutation at Arg506 of coagulation factor V and access thrombosis in haemodialysis patients. Nephrol Dial Transplant 1996; 11: 668-72.