Genetic predispositions to thrombophilia associated with rec urrent pregnancy loss

Journal fur Reproduktionsmedizin und Endokrinologie

Volumn 5, Issue 2, 2008, Pages 101-105

  Bogdanova, Nadja ^a   Markoff, A ^a  

^a UNIVERSITY OF MÜNSTER   (Germany)

Author keywords

Fetal loss; Genetic predisposition; Thrombophilia

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); BLOOD CLOTTING FACTOR 5; BLOOD CLOTTING FACTOR 5A; LIPOCORTIN 5; PROTEIN C; PROTEIN S; PROTEINASE; PROTHROMBIN;

ALLELE; BLOOD CLOTTING DISORDER; CLINICAL PRACTICE; DISEASE ASSOCIATION; FETUS WASTAGE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC DISORDER; GENETIC PREDISPOSITION; GENETIC RISK; GENETIC VARIABILITY; HUMAN; MEDICAL EDUCATION; PREGNANCY OUTCOME; PROMOTER REGION; RECURRENT DISEASE; REVIEW; THROMBOPHILIA;

EID: 46849108321     PISSN: 18102107     EISSN: 18109292     Source Type: Journal    
DOI: None     Document Type: Review

References (59)

1. Branch DW, Silver RM, Blackwell JL, Reading JC, Scott JR. Outcome of treated pregnancies in women with antiphospholipid syndrome: um update of the Utah experience. Obstet Gynecol 1992; 80: 614-20.
2. Kupferminc MJ, Eldor A, Steinman N, Many A, Bar-Am A, Jaffa A, Fait G, Lessing JB. Increased frequency of genetic thrombophilia in women with complications of pregnancy. N Engl J Med 1999; 340: 50-2.
3. Out HJ, Kooijman CD, Bruinse HW, Derksen RH. Histopathological findings in placentae from patients with intra-uterine fetal death and anti-phospholipid antibodies. Eur J Obstet Gynecol Reprod Biol 1991; 41: 179-86.
4. Rai R, Regan L, Hadley E, Dave M, Cohen H. Second-trimester pregnancy loss is associated with activated protein C resistance. Br J Haematol 1996; 92: 489-90.
5. Sanson BJ, Simioni P, Tormene D, Moia M, Friederich PW, Huisman MV, Prandoni P, Bura A, Rejto L, Wells P, Mannucci PM, Girolami A, Büller HR, Prins MH. The incidence of venous thromboembolism in asymptomatic carriers of a deficiency of antithrombin, protein C, or protein S: a prospective cohort study. Blood 1999; 94: 3702-6.
6. Simioni P, Sanson BJ, Prandoni P, Tormene D, Friederich PW, Girolami B, Gavasso S, Huisman MV, Büller HR, Wouter ten Cate J, Girolami A, Prins MH. Incidence of venous thromboembolism in families with inherited thrombophilia. Thromb Haemost 1999; 81: 198-202.
7. Kupferminc MJ. Thrombophilia and pregnancy. Reprod Biol Endocrinol 2003; 1: 111.
8. 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.
9. Voorberg J, Roelse J, Koopman R, Büller H, Berends F, ten Cate JW, Mertens K, van Mourik JA. Association of idiopathic venous thromboembolism with single pointmutation at Arg506 of factor V. Lancet 1994; 343: 1535-6.
10. Greengard JS, Sun X, Xu X, Fernandez JA, Griffin JH, Evatt B. Activated protein C resistance caused by Arg506Gln mutation in factor Va. Lancet 1994; 343: 1361-2.
11. 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; 15: 1271-6.
12. Cumming AM, Tait RC, Fildes S, Yoong A, Keeney S, Hay CR. Development of resistance to activated protein C during pregnancy. Br J Haematol 1995; 90: 725-7.
13. Olivieri O, Friso S, Manzato F, Guella A, Bernardi F, Lunghi B, Girelli D, Azzini M, Brocco G, Russo C, Corrocher R. Resistance to activated protein C in healthy women taking oral contraceptives. Br J Haematol 1995; 91: 465-70.
14. Chan WP, Lee CK, Kwong YL, Lam CK, Liang R. A novel mutation of Arg 506 of factor V genein Hong Kong Chinese. Blood 1998; 91: 1135.
15. 506→Thr) associated with resistance to activated protein C. Blood 1998; 91: 1140.
16. Gehring NH, Frede U, Neu-Yilik G, Hundsdoerfer P, Vetter B, Hentze MW, Kulozik AE. Increased efficiency of mRNA 3′ end formation: a new genetic mechanism contributing to hereditary thrombophilia. Nat Genet 2001; 28: 389-92.
17. Koster T, Rosendaal FR, de Ronde H, Briet E, Vandenvroucke JP, Bertina RM. Venous thrombosis due to poor anticoagulant response to activated protein C: Leiden thrombophilia study. Lancet 1993; 342: 1503-6.
18. Griffin JH, Evatt B, Wideman C, Fernández JA. Anticoagulant protein C pathway defective in majority of thrombophilic patients. Blood 1993; 82: 1989-93.
19. Ridker PM, Hennekens CH, Selhub J, Miletich JP, Malinow MR, Stampfer MJ. Interrelation of hyperhomocyst(e)inemia, factor V Leiden, and risk of future venous thromboembolism. Circulation 1997; 95: 1777-82.
20. 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.
21. Bosler D, Mattson J, Crisan D. Phenotypic heterogeneity in patients with homozygous Prothrombin 20210AA genotype. J Mol Diagn 2006; 4: 420-5.
22. Press RD, Bauer KA, Kujovich JL, Heit JA. Clinical utility of factor V leiden (R506Q) testing for the diagnosis and management of thromboembolic disorders. Arch Pathol Lab Med 2002; 126: 1304-18.
23. McGlennen RC, Key NS. Clinical and laboratory management of the prothrombin G20210A mutation. Arch Pathol Lab Med 2002; 126: 1319-25.
24. Seligsohn U, Lubetsky A. Genetic susceptibility to venous thrombosis. N Engl J Med 2001; 344: 1222-31.
25. Florell SR, Rodgers GM 3rd. Utilization of testing for activated protein C resistance in a reference laboratory. Am J Clin Pathol 1996; 106: 248-52.
26. Hanson NQ, Aras O, Yang F, Tsai MY. C677T and A1298C polymorphisms of the methylenetetrahydrofolate reductase gene: incidence and effect of combined genotypes on plasma fasting and post-methionine load homocysteine in vascular disease. Clin Chem 2001; 47: 661-6.
27. Tsai AW, Cushman M, Tsai MY. Serum homocysteine, MTHFR C677T genotype and risk of venous thromboembolism: the LITE study. Thromb Haemost 2001; 85 (Suppl): 324a.
28. Cattaneo M. Hyperhomocysteinemia, atherosclerosis and thrombosis. Thromb Haemost 1999; 81: 165-76.
29. Cattaneo M, Tsai MY, Bucciarelli P, Taioli E, Zighetti ML, Bignell M, Mannucci PM. A common mutation in the methylene-tetrahydrofolate reductase gene (C677T) increases the risk for deep-vein thrombosis in patients with mutant factor V (factor V:Q506). Arterioscler Thromb Vasc Biol 1997; 17: 1662-6.
30. Eldibany MM, Caprini JA. Hyperhomocysteinemia and thrombosis: an overview. Arch Pathol Lab Med 2007; 131: 872-84.
31. van der Put NML, Gabreels F, Stevens EMB, Smetink JA, Trijbels FJ, Eskes TK, van den Heuvel LP, Blom HJ. A second common mutation in the methylentetrahydrofolate reductase gene: an additional risk factor for neural-tube defects? Am J Hum Genet 1998; 62: 1044-51.
32. Hanson NQ, Aras O, Yang F, Tsai MY. C677T and A1298C polymorphisms of the methylentetrahydrofolate reductase gene: incidence and effect of combined genotypes on plasma fasting and post-methionine load homocysteine in vascular disease. Clin Chem 2001; 47: 661-6.
33. Brenner B, Sarig G, Weiner Z, Younis J, Blumenfeld Z, Lanir N. Thrombophilic Polymorphisms are common in women with fetal loss without apparent cause. Thromb Haemost 1999; 82: 6-9.
34. 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 (12 Pt 1): 1000-3.
35. Younis JS, Brenner B, Ohel G, Tal J, Lanir N, Ben-Ami M. Activated protein C resistance and factor V Leiden mutation can be associated with first-as well as second-trimester recurrent pregnancy loss. Am J Reprod Immunol 2000; 43: 31-5.
36. Sarig G, Younis JS, Hoffman R, Lanir N, Blumenfeld Z, Brenner B. Thrombophilia is common in women with idiopathic pregnancy loss and is associated with late pregnancy wastage. Fertil Steril 2002; 77: 342-7.
37. Finan RR, Tamim H, Ameen G, Sharida HE, Rashid M, Almawi WY. Prevalence of factor V G1691A (factor V-Leiden) and prothrombin G20210A gene mutations in a recurrent miscarriage population. Am J Hematol 2002; 71: 300-5.
38. Foka ZJ, Lambropoulos AF, Saravelos H, Karas GB, Karavida A, Agorastos T, Zournatzi V, Makris PE, Bontis J, Kotsis A. Factor V leiden and prothrombin G20210A mutations, but not methylenetetrahydrofolate reductase C677T, are associated with recurrent miscarriages. Hum Reprod 2000; 15: 458-62.
39. Reznikoff-Etiévan MF, Cayol V, Carbonne B, Robert A, Coulet F, Milliez J. Factor V Leiden and G20210A prothrombin mutations are risk factors for very early recurrent miscarriage. Br J Obstet Gyecol 2001; 108: 1251-4.
40. Kovalevsky G, Gracia CR, Berlin JA, Sammel MD, Barnhart KT. Evaluation of the association between hereditary thrombophilias and recurrent pregnancy loss: a meta-analysis. Arch Intern Med 2004; 164: 558-63.
41. Pihusch R, Buchholz T, Lohse P, Rübsamen H, Rogenhofer N, Hasbargen U, Hiller E, Thaler CJ. Thrombophilic gene mutations and recurrent spontaneous abortion: prothrombin mutation increases the risk in the first trimester. Am J Reprod Immunol 2001; 46: 124-31.
42. Wramsby ML, Sten-Linder M, Bremme K. Primary habitual abortions are associated with high frequency of factor V Leiden mutation. Fertil Steril 2000; 74: 987-91.
43. Rey E, Kahn SR, David M, Shrier I. Thrombophilic disorders and fetal loss: a meta-analysis. Lancet 2003; 361: 901-8.
44. Nelen WL, Blom HJ, Steegers EA, den Heijer M, Eskes TK. Hyperhomocysteinemia and recurrent early pregnancy loss: a meta-analysis. Fertil Steril 2000; 74: 1196-9.
45. van der Molen EF, Arends GE, Nelen WL, van der Put NJ, Heil SG, Eskes TK, Blom HJ. A common mutation in the 5,10-methylenetetrahydrofolate reductase gene as a new risk factor for placental vasculopathy. Am J Obstet Gynecol 2000; 182: 1258-63.
46. Goodman CS, Coulam CB, Jeyendran RS, Acosta VA, Roussev R. Which thrombophilic gene mutations are risk factors for recurrent pregnancy loss? Am J Reprod Immun 2006; 56: 230-6.
47. Subrt I, Ulvova-Gallova Z, Bibkova K, Micanova Z, Hejnalova M, Cerna M, Hradecky L, Novotny Z. Recurrent pregnancy loss and frequency of eight antiphospholipid antibodies and genetic thrombophilic factors in Czech women. Am J Reprod Immun 2008; 59: 193-200.
48. Coulam CB, Jeyendran RS, Fishel LA, Roussev R. Multiple thrombophilic gene mutations rather than specific gene mutations are risk factors for recurrent miscarriage. Am J Reprod Immunol 2006; 55: 360-8.
49. Kupferminc MJ, Eldor A, Steinman N, Many A, Bar-Am A, Jaffa A, Fait G, Lessing JB. Increased frequency of genetic thrombophilia in women with complications of pregnancy. N Engl J Med 1999; 340: 9-13.
50. Tranquilli AL, Giannubilo SR, Dell'Uomo B, Grandone E. Adverse pregnancy outcomes are associated with multiple maternal thrombophilic factors. Eur J Obstet Gynecol Reprod Biol 2004; 117: 144-7.
51. Empson M, Lassere M, Craig JC, Scott JR. Recurrent pregnancy loss with antiphospholipid antibody: A systematic review of therapeutic trials. Obstet Gynecol 2002; 99: 135-44.
52. Nilsson I, Astedt B, Hedner U, Berezin D. Intrauterine death and circulating anticoagulant ("antithromboplastin"). Acta Med Scand 1975; 197: 153-9.
53. Salafia CM, Cowchock FS. Placental pathology and antiphospholipid antibodies: A descriptive study. Am J Perinat 1997; 14: 435-41.
54. Rand JH, Wu XX, Guller S, Gil J, Guha A, Scher J, Lockwood CJ. Reduction of annexin-V (placental anticoagulant protein-I) on placental villi of women with antiphospholipid antibodies and recurrent spontaneous abortion. Am J Obstet Gynecol 1994; 171: 1566-72.
55. Shu F, Sugimura M, Kanayama N, Kobayashi H, Kobayashi T, Terao T. Immunohistochemical study of annexin V expression in placentae of preeclampsia. Gynecol Obstet Invest 2000; 49: 17-23.
56. Romisch J, Seiffge D, Reiner G, Paques EP, Heimburger N. In-vivo antithrombotic potency of placenta protein 4 (annexin V). Thromb Res 1991; 61: 93-104.
57. Rand JH, Wu XX. Antibody-mediated disruption of the annexin-V antithrombotic shield: a new mechanism for thrombosis in the antiphospholipid syndrome. Thromb Haemost 1999; 82: 649-55.
58. Rand JH, Wu XX, Quinn AS, Chen PP, McCrae KR, Bovill EG, Taatjes DJ. Human monoclonal antiphospholipid antibodies disrupt the annexin A5 anticoagulant crystal shield on phospholipid bilayers: evidence from atomic force microscopy and functional assay. Am J Pathol 2003; 163: 1193-2000.
59. Bogdanova N, Horst J, Chlystun M, Croucher PJ, Nebel A, Bohring A, Todorova A, Schreiber S, Gerke V, Krawczak M, Markoff A. A common haplotype of the annexin A5 (ANXA5) gene promoter is associated with recurrent pregnancy loss. Hum Mol Genet 2007; 16: 573-8.