- About this Journal ·
- Abstracting and Indexing ·
- Aims and Scope ·
- Article Processing Charges ·
- Articles in Press ·
- Author Guidelines ·
- Bibliographic Information ·
- Citations to this Journal ·
- Contact Information ·
- Editorial Board ·
- Editorial Workflow ·
- Free eTOC Alerts ·
- Publication Ethics ·
- Reviewers Acknowledgment ·
- Submit a Manuscript ·
- Subscription Information ·
- Table of Contents
Journal of Pregnancy
Volume 2011 (2011), Article ID 232840, 9 pages
Acquired Activated Protein C Resistance, Thrombophilia and Adverse Pregnancy Outcomes: A Study Performed in an Irish Cohort of Pregnant Women
1Molecular Diagnostics Research Group, National Centre for Biomedical Engineering Science, National University of Ireland, Galway, Ireland
2Department of Haematology, University College Hospital, Galway, Ireland
3Department of Obstetrics & Gynaecology, University College Hospital, Galway, Ireland
Received 16 December 2010; Revised 29 April 2011; Accepted 31 May 2011
Academic Editor: Sinuhe Hahn
Copyright © 2011 Sara Sedano-Balbás et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
- “Report on confidential enquiries into maternal deaths,” in Reports on Public Health and Medical Subjects 1994–1996, L. Gwyneth, Ed., Department of Health United Kingdom, London, UK, 1998.
- S. C. M. Knijff, Ed., Summary of Contraindications to Oral Contraceptives, Parthenon Publishing Group, New York, NY, USA, 2000.
- I. Martinelli, “Risk factors in venous thromboembolism,” Thromb Haemost, vol. 86, pp. 395–403, 2001.
- M. Kalafatis, R. M. Bertina, M. D. Rand, and K. G. Mann, “Characterization of the molecular defect in factor V(R506Q),” Journal of Biological Chemistry, vol. 270, no. 8, pp. 4053–4057, 1995.
- F. Axelsson and S. Rosen, APC Resistance, Product Monograph 1997, Chromogenix AB, version 2.1 1997.
- D. Williamson, K. Brown, R. Luddington, C. Baglin, and T. Baglin, “Factor V cambridge: a new mutation (Arg306→Thr) associated with resistance to activated protein C,” Blood, vol. 91, no. 4, pp. 1140–1144, 1998.
- F. Bernardi, E. M. Faioni, E. Castoldi et al., “A factor V genetic component differing from factor V R506Q contributes to the activated protein C resistance phenotype,” Blood, vol. 90, no. 4, pp. 1552–1557, 1997.
- B. Zoller, P. J. Svensson, X. He, and B. Dahlback, “Identification of the same factor V gene mutation in 47 out of 50 thrombosis-prone families with inherited resistance to activated protein C,” Journal of Clinical Investigation, vol. 94, no. 6, pp. 2521–2524, 1994.
- M. Kalafatis, M. D. Rand, and K. G. Mann, “The mechanism of inactivation of human factor V and human factor Va by activated protein C,” Journal of Biological Chemistry, vol. 269, no. 50, pp. 31869–31880, 1994.
- L. Hoekema, E. Castoldi, G. Tans et al., “Functional properties of factor V and factor Va encoded by the R2-gene,” Thrombosis and Haemostasis, vol. 85, no. 1, pp. 75–81, 2001.
- M. Hellgren, P. J. Svensson, and B. Dahlback, “Resistance to activated protein C as a basis for venous thromboembolism associated with pregnancy and oral contraceptives,” American Journal of Obstetrics & Gynecology, vol. 173, pp. 210–210, 1995.
- A. M. Cumming, R. C. Tait, S. Fildes, A. Yoong, S. Keeney, and C. R. M. Hay, “Development of resistance to activated protein C during pregnancy,” British Journal of Haematology, vol. 90, no. 3, pp. 725–727, 1995.
- M. Colucci, N. Ciavarella, M. G. Giliberti, and N. Semeraro, “Resistance to activated protein C (APC): influence of factor V levels,” Thrombosis and Haemostasis, vol. 72, no. 6, pp. 987–988, 1994.
- G. Freyburger, S. Javorschi, S. Labrouche, and P. Bernard, “Proposal for objective evaluation of the performance of various functional APC-resistance tests in genotyped patients,” Thrombosis and Haemostasis, vol. 78, no. 5, pp. 1360–1365, 1997.
- M. R. Malinow, A. Rajkovic, P. B. Duell, D. L. Hess, and B. M. Upson, “The relationship between maternal and neonatal umbilical cord plasma homocyst(e)ine suggests a potential role for maternal homocyst(e)ine in fetal metabolism,” American Journal of Obstetrics & Gynecology, vol. 178, no. 2, pp. 228–233, 1998.
- M. J. Kupferminc, A. Eldor, N. Steinman et al., “Increased frequency of genetic thrombophilia in women with complications of pregnancy,” The New England Journal of Medicine, vol. 340, no. 1, pp. 9–13, 1999.
- V. Dordevic, L. Rakicevic, M. Spasic, D. Mikovic, M. Kovac, and D. Radojkovic, “Factor V Leiden, FII G20210A, MTHFR C677T mutations as risk factors for venous thrombosis during pregnancy and puerperium,” Vojnosanit Pregl, vol. 62, pp. 201–205, 2005.
- E. Grandone, M. Margaglione, D. Colaizzo, G. Cappucci, et al., “Prothrombotic genetic risk factors and the occurrence of gestational hypertension with or without proteinuria,” Thrombosis and Haemostasis, vol. 81, pp. 349–352, 1999.
- K. D. Wenstrom, G. L. Johanning, K. E. Johnston, and M. DuBard, “Association of the C677T methylenetetrahydrofolate reductase mutation and elevated homocysteine levels with congenital cardiac malformations,” American Journal of Obstetrics & Gynecology, vol. 184, pp. 806–812, 2001.
- G. Unfried, A. Griesmacher, W. Weismuller, F. Nagele, J. C. Huber, and C. B. Tempfer, “The C677T polymorphism of the methylenetetrahydrofolate reductase gene and idiopathic recurrent miscarriage,” Obstetrics & Gynecology, vol. 99, pp. 614–619, 2002.
- S. Sedano-Balbás, M. Lyons, B. Cleary, M. Murray, G. Gaffney, and M. Maher, “APCR, factor V gene known and novel SNPs and adverse pregnancy outcomes in an Irish cohort of pregnant women,” BMC Pregnancy and Childbirth, vol. 10, article 11, 2010.
- M. C. Walker, P. R. Garner, E. J. Keely, G. A. Rock, and M. D. Reis, “Changes in activated protein C resistance during normal pregnancy,” American Journal of Obstetrics & Gynecology, vol. 177, no. 1, pp. 162–169, 1997.
- M. Trossaert, J. Conard, M. H. Horellou et al., “Modified APC resistance assay for patients on oral anticoagulants,” The Lancet, vol. 344, no. 8938, p. 1709, 1994.
- J. I. Jorquere, J. M. Montoro, M. A. Fernandez, J. A. Aznar, and J. Aznar, “Modified test for activated protein C resistance,” The Lancet, vol. 344, no. 8930, pp. 1162–1163, 1994.
- P. M. Ridker, C. H. Hennekens, K. Lindpaintner, M. J. Stampfer, P. R. Eisenberg, and J. P. Miletich, “Mutation in the gene coding for coagulation factor v and the risk of myocardial infarction, stroke, and venous thrombosis in apparently healthy men,” The New England Journal of Medicine, vol. 332, no. 14, pp. 912–917, 1995.
- B. Lunghi, L. Iacoviello, D. Gemmati et al., “Detection of new polymorphic markers in the factor V gene: association with factor V levels in plasma,” Thrombosis and Haemostasis, vol. 75, no. 1, pp. 45–48, 1996.
- B. Lunghi, E. Castoldi, F. Mingozzi, and F. Bernardi, “A new factor V gene polymorphism (His 1254 Arg) present in subjects of african origin mimics the R2 polymorphism (His 1299 Arg),” Blood, vol. 91, no. 1, pp. 364–365, 1998.
- S. R. Poort, F. R. Rosendaal, P. H. Reitsma, and R. M. Bertina, “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, vol. 88, no. 10, pp. 3698–3703, 1996.
- F. Peng, L. A. Labelle, B. J. Rainey, and G. J. Tsongalis, “Single nucleotide polymorphisms in the methylenetetrahydrofolate reductase gene are common in US Caucasian and Hispanic American populations,” International Journal of Molecular Medicine, vol. 8, no. 5, pp. 509–511, 2001.
- M. D. Williams, E. A. Chalmers, and B. E. S. Gibson, “The investigation and management of neonatal haemostasis and thrombosis,” British Journal of Haematology, vol. 119, no. 2, pp. 295–309, 2002.
- J. P. Gregg, A. J. Yamane, and W. W. Grody, “Prevalence of the factor V-Leiden mutation in four distinct American ethnic populations,” American Journal of Medical Genetics, vol. 73, no. 3, pp. 334–336, 1997.
- A. Naudziunas and S. Miliauskas, “Factor V Leiden and post thromboembolic pulmonary hypertension,” Medicina, vol. 39, no. 12, pp. 1171–1174, 2003.
- B. Dahlbäck, B. Zöller, and A. Hillarp, “Inherited resistance to activated protein C caused by presence of the FV:Q506 allele as a basis of venous thrombosis,” Haemostasis, vol. 26, no. 4, pp. 301–314, 1996.
- R. M. Bertina, B. P. C. Koeleman, T. Koster et al., “Mutation in blood coagulation factor V associated with resistance to activated protein C,” Nature, vol. 369, no. 6475, pp. 64–67, 1994.
- B. Dahlback and B. Hildebrand, “Inherited resistance to activated protein C is corrected by anticoagulant cofactor activity found to be a property of factor V,” Proceedings of the National Academy of Sciences of the United States of America, vol. 91, no. 4, pp. 1396–1400, 1994.
- X. Sun, B. Evatt, and J. H. Griffin, “Blood coagulation factor Va abnormality associated with resistance to activated protein C in venous thrombophilia,” Blood, vol. 83, no. 11, pp. 3120–3125, 1994.
- B. Zoller and B. Dahlback, “Linkage between inherited resistance to activated protein C and factor V gene mutation in venous thrombosis,” The Lancet, vol. 343, no. 8912, pp. 1536–1538, 1994.
- J. H. Griffin, M. J. Heeb, Y. Kojima et al., “Activated protein C resistance: molecular mechanisms,” Thrombosis and Haemostasis, vol. 74, no. 1, pp. 444–448, 1995.
- R. M. Bertina, P. H. Reitsma, F. R. Rosendaal, and J. P. Vandenbroucke, “Resistance to activated protein C and factor V Leiden as risk factors for venous thrombosis,” Thrombosis and Haemostasis, vol. 74, no. 1, pp. 449–453, 1995.
- G. Siegert, S. Gehrish, S. Schellong, T. Schwarz, E. Runge, and K. Lüthke, “Decreased APC-response in patients lacking factor V- Leiden-Laboratory diagnostic and clinical relevance,” Thromb Haemost, pp. 317–318, 1997.
- M. C. H. de Visser, F. R. Rosendaal, and R. M. Bertina, “A reduced sensitivity for activated protein C in the absence of factor V Leiden increases the risk of venous thrombosis,” Blood, vol. 93, no. 4, pp. 1271–1276, 1999.
- S. Sedano, G. Gaffney, G. Mortimer et al., “Activated Protein C Resistance (APCR) and Placental Fibrin Deposition,” Placenta, vol. 29, no. 9, pp. 833–837, 2008.
- L. C. Chan, C. Bourke, C. K. Lam et al., “Lack of activated protein C resistance in healthy Hong Kong Chinese blood donors—correlation with absence of Arg506-Gln mutation of factor V gene,” Thrombosis and Haemostasis, vol. 75, no. 3, pp. 522–523, 1996.
- R. Luddington, A. Jackson, S. Pannerselvam, K. Brown, and T. Baglin, “The factor V R2 allele: risk of venous thromboembolism, factor V levels and resistance to activated protein C,” Thrombosis and Haemostasis, vol. 83, no. 2, pp. 204–208, 2000.
- G. Castaman, M. Ruggeri, A. Tosetto, and F. Rodeghiero, “Heterogeneity of activated protein C resistance phenotype in subjects with compound heterozygosity for HR2 haplotype and FV Leiden mutation (R506Q) in factor V gene,” Thrombosis and Haemostasis, vol. 84, no. 2, pp. 357–358, 2000.
- S. Gandrille, J. S. Greengard, M. Alhenc-Gelas, et al., “Incidence of activated protein C resistance caused by the ARG 506 GLN mutation in factor V in 113 unrelated symptomatic protein C-deficient patients. The French Network on the behalf of INSERM,” Blood, vol. 86, pp. 219–224, 1995.
- W. P. Chan, C. K. Lee, Y. L. Kwong, C. K. Lam, and R. Liang, “A novel mutation of Arg306 of factor V gene in Hong Kong Chinese,” Blood, vol. 91, no. 4, pp. 1135–1139, 1998.
- M. C. De Visser, J. F. Guasch, P. W. Kamphuisen, H. L. Vos, F. R. Rosendaal, and R. M. Bertina, “The HR2 haplotype of factor V: effects on factor V levels, normalised activated protein C sensitivity ratios and the risk of venous thrombosis,” Thrombosis and Haemostasis, vol. 83, pp. 577–582, 2000.
- G. Sarig, J. S. Younis, R. Hoffman, N. Lanir, Z. Blumenfeld, and B. Brenner, “Thrombophilia is common in women with idiopathic pregnancy loss and is associated with late pregnancy wastage,” Fertility and Sterility, vol. 77, no. 2, pp. 342–347, 2002.
- M. Prochazka, V. Krcova, P. Hrachovec, M. Kudela, and L. Slavik, “Activated protein C resistance and deep venous thrombosis in pregnancy,” Ceska Gynekol, vol. 67, pp. 251–254, 2002.
- A. Santamaria, J. M. Soria, I. Tirado, et al., “Double heterozygosity for Factor V Leiden and Factor V Cambridge mutations associated with low levels of activated protein C resistance in a Spanish thrombophilic family,” Thrombosis and Haemostasis, vol. 93, pp. 1193–1195, 2005.
- O. Salomon, D. M. Steinberg, A. Zivelin et al., “Single and combined prothrombotic factors in patients with idiopathic venous thromboembolism: prevalence and risk assessment,” Arteriosclerosis, Thrombosis, and Vascular Biology, vol. 19, no. 3, pp. 511–518, 1999.
- S. Sohda, T. Arinami, H. Hamada, N. Yamada, H. Hamaguchi, and T. Kubo, “Methylenetetrahydrofolate reductase polymorphism and pre-eclampsia,” Journal of Medical Genetics, vol. 34, no. 6, pp. 525–526, 1997.
- M. J. Hessner, R. A. Luhm, S. L. Pearson, D. J. Endean, K. D. Friedman, and R. R. Montgomery, “Prevalence of prothrombin G20210A, factor V G1691A (Leiden), and methylenetetrahydrofolate reductase (MTHFR) C677T in seven different populations determined by multiplex allele-specific PCR,” Thrombosis and Haemostasis, vol. 81, no. 5, pp. 733–738, 1999.
- J. L. Kujovich, “Thrombophilia and pregnancy complications,” American Journal of Obstetrics & Gynecology, vol. 191, no. 2, pp. 412–424, 2004.
- L. Robertson, O. Wu, P. Langhorne et al., “Thrombophilia in pregnancy: a systematic review,” British Journal of Haematology, vol. 132, no. 2, pp. 171–196, 2006.