Thrombophilic polymorphisms are common in women with fetal loss without apparent cause

Thrombosis and Haemostasis

Volumn 82, Issue 1, 1999, Pages 6-9

  Brenner, B ^a   Sarig, G ^a   Weiner, Z ^a   Younis, J ^b   Blumenfeld, Z ^a   Lanir, N ^a  

^a RAMBAM MEDICAL CENTER   (Israel)

^b Rambam Medical Center ^*

Author keywords

[No Author keywords available]

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); BLOOD CLOTTING FACTOR 5 LEIDEN; PROTHROMBIN;

ADULT; ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; FEMALE; GENE MUTATION; GENETIC POLYMORPHISM; HUMAN; MAJOR CLINICAL STUDY; PRIORITY JOURNAL; SPONTANEOUS ABORTION; THROMBOPHILIA;

EID: 0032767244     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-0037-1614620     Document Type: Article

References (24)

1. Younis JS, Ohel G, Brenner B, Ben-Ami M. Familial thrombophilia - the scientific rationale for thrombophylaxis in recurrent pregnancy loss? Hum Reprod 1997; 12: 1389-90.
2. Brenner B, Blumenfeld Z. Thrombophilia and fetal loss. Blood Reviews 1997: 11: 72-9.
3. Sanson BJ, Friederich PW, Simioni P, Zanardi S, Huisman MV, Girolami A, ten Cate JW, Prins MH. The risk of abortion and stillbirth in antithrombin-protein C- and protein S-deficient women. Thromb Haemost 1996; 75: 387-90.
4. Preston FE, Rosendaal FR, Walker ID, Briet E, Berntrop E, Conard J et al. Increased fetal loss in women with heritable thrombophilia. Lancet 1996; 348: 913-6.
5. Rai R, Regan L, Hadely E, Dave M, Cohen H. Second-trimester pregnancy loss is associated with activated protein C resistance. Br J Haematol 1996; 92: 489-90.
6. Brenner B, Mandel H, Lanir N, Younis J, Rothbart H, Ohel G, Blumenfeld Z. Activated protein C resistance can be associated with recurrent fetal loss. Br J Haematol 1997; 97: 551-4.
7. Grandone E, Margaglione M, Colaizzo D, d'Addedda M, Cappucci G, Vecchione G. Factor V-Leiden is associated with repeated and recurrent unexplained fetal losses. Thromb Haemost 1997; 77: 822-4.
8. Ridker PM, Miletich JP, Buring JE, Ariyo AA, Price DT, Manson JE, Hill JA. Factor V-Leiden mutation as a risk factor for recurrent pregnancy loss. Ann Intern Med 1998; 128: 1000-3.
9. Kluijtmans LAJ, van den Heuvel LPWJ, Boers GHJ, Frosst P, Stevens EMB, van Oost BA, den Heijer M, Trijbels FJM, Rozen R, Blom HJ. Molecular genetic analysis in mild hyperhomocysteinemia: A common mutation in the methylene tetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease. Am J Hum Genet 1996; 58: 35-41.
10. Poort SW, Rosendall 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.
11. Mandel H, Brenner B, Berant M, Rosenberg N, Lanir N, Jakobs C, Fowler B, Seligsohn U. Coexistence of hyperhomocysteinemia and factor V-Leiden mutation: Impact on expression of thrombosis. N Engl J Med 1996; 334: 763-8.
12. De Franchis R, Mancini FP, D'Angelo A, Sebastio G, Fermo I, De Stefano V, Margaglione M, Mazzalo G, Di Minno G, Andria G. Elevated total plasma homocysteine and C→T mutation of 5,10 methylenetetrahydrofolate reductase gene in thrombotic vascular disease. Am J Hum Genet 1996; 59: 262-4.
13. Bertina RM, Koeleman BPC, Koster T, Rosendaal FR, Dirven FJ, 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.
14. Zivelin A, Griffin JH, Xu X, Pabinger I, Samama M, Conard J, Brenner B, Eldor A, Seligsohn U. A single genetic origin for a common Caucasian risk factor for venous thrombosis. Blood 1997; 89: 397-402.
15. Seligsohn U. Ziivelin A. Thrombophilia as a multigenetic disorder. Thromb Haemost 1997; 78: 297-301.
16. Kluijtmans LAJ, den Heijer M, Reitsma PH. Heil SG, Blom HJ, Rosendaal FR. Thermolabile metylene tetra hydrofolate reductase and factor V-Leiden in the risk of deep vein thrombosis. Thromb Haemost 1998; 79: 254-8.
17. Margaglione M, D'Andrea G, d'Addedda M, Giuliani N, Cappucci G, Iannaccone L, Vecchione G, Grandone E. Brancaccio V, Di Minno G. The methylenetetrahydrofolate reductase TT677 genotype is associated with venous thrombosis independently of the coexistence of the FV-Leiden and the prothrombin A202IO mutation. Thromb Haemost 1998; 79: 907-11.
18. Rothman D. Folic acid in pregnancy. Am J Obstet Gynecol 1970; 108: 149-53.
19. Nelen WLDM, Steegers EAP, Eskes TKAB, Blom JH. Genetic risk factor for unexplained recurrent early pregnancy loss. Lancet 1997; 350: 861.
20. Nelen WLDM, van der Molen EF, Blom HJ, Heil SG, Steegers EAP, Eskes TKAB. Recurrent early pregnancy loss and genetic-related disturbances in folate and homocysteine metabolism. Br J Hosp Med 1997; 58: 511-3.
21. Rosendaal FR, Doggen CJ, Zivelin A, Arruda VR, Aiach M, Siscovick DS, Hillarp A, Watzke HH, Bernardi F, Gumming AM, Preston FE, Reitsma PH. Geographic distribution of the 20210G to a prothrombin variant. Thromb Haemost 1998; 79: 706-8.
22. Zivelin A, Rosenberg N, Faier S, Kornbrot N, Peretz H, Manhalter C. Horellow MH, Seligsohn U. A single genetic origin for the common prothrombotic G2021OA polymorphism in the prothrombin gene. Blood 1998: 92: 1119-24.
23. Brenner B, Zivelin A, Lanir N, Greengard JS, Griffin JH, Seligsohn U. Venous thromboembolism associated with double heterozygosity for R506Q mutation of factor V and for T298M mutation of protein C in a large family of a previously described homozygous protein C deficient newborn with massive thrombosis. Blood 1996; 88: 877-80.
24. Grandone E, Margaglione M, Colaizzo D, Cappucci G, Paladini D, Martinelli P, Montanaro S, Pavone G, Di Minno G. Factor V-Leiden, C > T MTHFR polymorphism and genetic susceptibility to preeclampsia. Thromb Haemost 1997; 77: 1052-4.