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1 Department of Laboratory Medicine, Rudolfstiftung Hospital, Juchgasse 25, A-1030 Vienna, Austria.
2 Department of Obstetrics and Gynecology, Division of Gynecologic Endocrinology and Reproductive Medicine, University of Vienna, A-1090 Vienna, Austria.
3 Eli Lilly and Company, Area Medical Center Vienna, A-1030 Vienna, Austria.
4 ViennaLab GmbH, A-1110 Vienna, Austria.
aAuthor for correspondence. Fax 43-1-71165-3309; e-mail Pierre.Hopmeier{at}kar.magwien.gv.at.
Background: A successful outcome of pregnancy depends on proper placental formation. In the very beginning of this process, trophoblast invasion and fibrin deposition into the wall of the decidual veins play an important part. Two polymorphisms, coagulation factor XIII (FXIII) Val34Leu and plasminogen activator inhibitor 1 (PAI-1) 4G/5G, interfere with fibrin cross-linking and regulation of fibrinolysis and may therefore contribute to early pregnancy loss.
Methods: We enrolled 49 unrelated Caucasian women with a history of two consecutive or three to six nonconsecutive early pregnancy losses and 48 unrelated parous healthy controls without a history of pregnancy loss and evaluated them for the following genetic variants: the factor V Leiden and prothrombin G20210A gene mutations, the methylenetetrahydrofolate reductase C677T and A1298C polymorphisms, and the PAI-1 4G/5G and FXIII Val34Leu polymorphisms.
Results: For the isolated occurrence of PAI-1 4G/5G or FXIII Val34Leu, we found no statistically significant difference between cases and controls. For homozygosity of either or compound carrier status of both mutations, the overall relative risk for early pregnancy loss was significantly increased (odds ratio = 2.4; 95% confidence interval, 1.1–5.5; P = 0.032). We observed no statistically relevant association of any of the other tested mutations with early pregnancy loss.
Conclusion: Homozygosity for PAI-1 4G or FXIII 34Leu polymorphisms as well as compound carrier status is associated with early pregnancy loss.
The following articles in journals at HighWire Press have cited this article:
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  R. F. Savaris, A. E. Hamilton, B. A. Lessey, and L. C. Giudice Endometrial Gene Expression in Early Pregnancy: Lessons From Human Ectopic Pregnancy Reproductive Sciences, October 1, 2008; 15(8): 797 - 816. [Abstract] [PDF]
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 I. B. Kovacs and J. Yamamoto Spontaneous Thrombolysis: A Forgotten Determinant of Life or Death Clinical and Applied Thrombosis/Hemostasis, July 1, 2006; 12(3): 358 - 363. [Abstract] [PDF]
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 F. Sata, H. Yamada, K. Suzuki, Y. Saijo, E. H Kato, M. Morikawa, H. Minakami, and R. Kishi Caffeine intake, CYP1A2 polymorphism and the risk of recurrent pregnancy loss Mol. Hum. Reprod., May 1, 2005; 11(5): 357 - 360. [Abstract] [Full Text] [PDF]
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R. L. Bick and D. Hoppensteadt Recurrent Miscarriage Syndrome and Infertility Due to Blood Coagulation Protein/Platelet Defects: A Review and Update Clinical and Applied Thrombosis/Hemostasis, January 1, 2005; 11(1): 1 - 13. [Abstract] [PDF]
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C. J. Glueck, P. Wang, N. Goldenberg, and L. Sieve Pregnancy Loss, Polycystic Ovary Syndrome, Thrombophilia, Hypofibrinolysis, Enoxaparin, Metformin Clinical and Applied Thrombosis/Hemostasis, October 1, 2004; 10(4): 323 - 334. [Abstract] [PDF]
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Y. Saijo, F. Sata, H. Yamada, K. Suzuki, S. Sasaki, T. Kondo, Y.Y. Gong, E.H. Kato, S. Shimada, M. Morikawa, et al. Ah receptor, CYP1A1, CYP1A2 and CYP1B1 gene polymorphisms are not involved in the risk of recurrent pregnancy loss Mol. Hum. Reprod., October 1, 2004; 10(10): 729 - 733. [Abstract] [Full Text] [PDF]
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