Plasminogen activator inhibitor-1 gene polymorphisms in pre-eclampsia

Seminars in Thrombosis and Hemostasis

Volumn 37, Issue 2, 2011, Pages 97-105

  D'Elia, Angela V ^a   Fabbro, Dora ^a   Driul, Lorenza ^b   Barillari, Giovanni ^a   Marchesoni, Diego ^b   Damante, Giuseppe ^a,b  

^a SANTA MARIA DELLA MISERICORDIA UNIVERSITY HOSPITAL   (Italy)

^b UNIVERSITY OF UDINE   (Italy)

Author keywords

gene polymorphisms; PAI 1; Pre eclampsia

Indexed keywords

PLASMINOGEN ACTIVATOR INHIBITOR 1;

ARTICLE; CARDIOVASCULAR RISK; FIBRINOLYSIS; GENE INTERACTION; GENETIC POLYMORPHISM; GENETIC VARIABILITY; HEMOSTASIS; HUMAN; PREECLAMPSIA; PRIORITY JOURNAL; PROTEIN FUNCTION;

CHROMOSOMES, HUMAN, PAIR 7; FEMALE; GENOME-WIDE ASSOCIATION STUDY; HEMOSTASIS; HUMANS; PLASMINOGEN ACTIVATOR INHIBITOR 1; POLYMORPHISM, GENETIC; PRE-ECLAMPSIA; PREGNANCY;

EID: 79952297038     PISSN: 00946176     EISSN: 10989064     Source Type: Journal    
DOI: 10.1055/s-0030-1270334     Document Type: Article

References (95)

1. Sibai B M., Ewell M, Levino R J. et al. Risk factors associated with preeclampsia in healthy nulliparous women. The Calcium for Preeclampsia Prevention (CPEP) Study Group. Am J Obstet Gynecol 1997 177 1003-1010 (Pubitemid 27525346)
2. Dekker G A., Sibai B M. Etiology and pathogenesis of preeclampsia: current concepts. Am J Obstet Gynecol 1998 179 5 1359-1375 (Pubitemid 28533800)
3. Sibai B, Dekker G, Kupferminc M. Pre-eclampsia. Lancet 2005 365 9461 785-799 (Pubitemid 40311367)
4. Kruithof E KO, Tran-Thang C, Gudinchet A et al. Fibrinolysis in pregnancy: a study of plasminogen activator inhibitors. Blood 1987 69 2 460-466 (Pubitemid 17022014)
5. Estellés A, Gilabert J, Aznar J, Espaa F, Schleef R, Loskutoff D J. Cellular expression and potential roles of plasminogen activator inhibitors in normal and pathological pregnancies. In: Aznar J Gilabert J Estellés A Fibrinolytic Inhibitors. Cellular, Biological and Clinical Aspects. Madrid, Spain Garsi-Masson 1994 43-59
6. He S, Bremme K, Blombäck M. Increased blood flow resistance in placental circulation and levels of plasminogen activator inhibitors types 1 and 2 in severe preeclampsia. Blood Coagul Fibrinolysis 1995 6 8 703-708 (Pubitemid 26047200)
7. Graeff H, von Hugo R, Schröck R. Recent aspects of hemostasis, hematology and hemorheology in preeclampsia-eclampsia. Eur J Obstet Gynecol Reprod Biol 1984 17 2-3 91-102 (Pubitemid 14107256)
8. Friedman S A., Schiff E, Emeis J J., Dekker G A., Sibai B M. Biochemical corroboration of endothelial involvement in severe preeclampsia. Am J Obstet Gynecol 1995 172 1 Pt 1 202-203
9. Gao M, Nakabayashi M, Sakura M, Takeda Y. The imbalance of plasminogen activators and inhibitor in preeclampsia. J Obstet Gynaecol Res 1996 22 1 9-16 (Pubitemid 26160533)
10. Teng Y C., Lin Q D., Lin J H., Ding C W., Zuo Y. Coagulation and fibrinolysis related cytokine imbalance in preeclampsia: the role of placental trophoblasts. J Perinat Med 2009 37 4 343-348
11. Arngrimsson R, Björnsson S, Geirsson R T., Björnsson H, Walker J J., Snaedal G. Genetic and familial predisposition to eclampsia and pre-eclampsia in a defined population. Br J Obstet Gynaecol 1990 97 9 762-769 (Pubitemid 20283312)
12. Folgerø T, Storbakk N, Torbergsen T, Oian P. Mutations in mitochondrial transfer ribonucleic acid genes in preeclampsia. Am J Obstet Gynecol 1996 174 5 1626-1630 (Pubitemid 26165291)
13. Reich D E., Lander E S. On the allelic spectrum of human disease. Trends Genet 2001 17 9 502-510 (Pubitemid 32763048)
14. Mogren I, Högberg U, Winkvist A, Stenlund H. Familial occurrence of preeclampsia. Epidemiology 1999 10 5 518-522 (Pubitemid 29398907)
15. Nilsson E, Salonen Ros H, Cnattingius S, Lichtenstein P. The importance of genetic and environmental effects for pre-eclampsia and gestational hypertension: a family study. BJOG 2004 111 3 200-206 (Pubitemid 38299582)
16. Dawson L M., Parfrey P S., Hefferton D et al. Familial risk of preeclampsia in Newfoundland: a population-based study. J Am Soc Nephrol 2002 13 7 1901-1906 (Pubitemid 34700616)
17. Cincotta R B., Brennecke S P. Family history of pre-eclampsia as a predictor for pre-eclampsia in primigravidas. Int J Gynaecol Obstet 1998 60 1 23-27 (Pubitemid 28055272)
18. Plunkett J, Borecki I, Morgan T, Stamilio D, Muglia L J. Population-based estimate of sibling risk for preterm birth, preterm premature rupture of membranes, placental abruption and pre-eclampsia. BMC Genet 2008 9 44
19. Lachmeijer A M., Aarnoudse J G., ten Kate L P., Pals G, Dekker G A. Concordance for pre-eclampsia in monozygous twins. Br J Obstet Gynaecol 1998 105 12 1315-1317 (Pubitemid 29002835)
20. O'Shaughnessy K M., Ferraro F, Fu B, Downing S, Morris N H. Identification of monozygotic twins that are concordant for preeclampsia. Am J Obstet Gynecol 2000 182 5 1156-1157 (Pubitemid 30353305)
21. Salonen Ros H, Lichtenstein P, Lipworth L, Cnattingius S. Genetic effects on the liability of developing pre-eclampsia and gestational hypertension. Am J Med Genet 2000 91 4 256-260 (Pubitemid 30191247)
22. Thornton J G., Macdonald A M. Twin mothers, pregnancy hypertension and pre-eclampsia. Br J Obstet Gynaecol 1999 106 6 570-575 (Pubitemid 29245589)
23. Treloar S A., Cooper D W., Brennecke S P., Grehan M M., Martin N G. An Australian twin study of the genetic basis of preeclampsia and eclampsia. Am J Obstet Gynecol 2001 184 3 374-381 (Pubitemid 32206987)
24. Esplin M S., Fausett M B., Fraser A et al. Paternal and maternal components of the predisposition to preeclampsia. N Engl J Med 2001 344 12 867-872 (Pubitemid 32224394)
25. Cnattingius S, Reilly M, Pawitan Y, Lichtenstein P. Maternal and fetal genetic factors account for most of familial aggregation of preeclampsia: a population-based Swedish cohort study. Am J Med Genet A 2004 130A 4 365-371 (Pubitemid 39441611)
26. Nejatizadeh A, Stobdan T, Malhotra N, Pasha M A. The genetic aspects of pre-eclampsia: achievements and limitations. Biochem Genet 2008 46 7-8 451-479
27. Chappell S, Morgan L. Searching for genetic clues to the causes of pre-eclampsia. Clin Sci (Lond) 2006 110 4 443-458
28. Dekker G A. Risk factors for preeclampsia. Clin Obstet Gynecol 1999 42 3 422-435 (Pubitemid 30017267)
29. Dekker G. Prothrombotic mechanisms in preeclampsia. Thromb Res 2005 115 Suppl 1 17-21
30. Kupferminc M J., Eldor A, Steinman N et al. Increased frequency of genetic thrombophilia in women with complications of pregnancy. N Engl J Med 1999 340 1 9-13 (Pubitemid 29024678)
31. van Pampus M G., Dekker G A., Wolf H et al. High prevalence of hemostatic abnormalities in women with a history of severe preeclampsia. Am J Obstet Gynecol 1999 180 5 1146-1150 (Pubitemid 29259008)
32. Dizon-Townson D S., Nelson L M., Easton K, Ward K. The factor V Leiden mutation may predispose women to severe preeclampsia. Am J Obstet Gynecol 1996 175 4 Pt 1 902-905 (Pubitemid 26357952)
33. Nagy B, Tóth T, Rigó J J. Jr, Karádi I, Romics L, Papp Z. Detection of factor V Leiden mutation in severe pre-eclamptic Hungarian women. Clin Genet 1998 53 6 478-481 (Pubitemid 28327743)
34. Mello G, Parretti E, Marozio L et al. Thrombophilia is significantly associated with severe preeclampsia: results of a large-scale, case-controlled study. Hypertension 2005 46 1270-1274 (Pubitemid 43189722)
35. Kim Y J., Williamson R A., Murray J C. et al. Genetic susceptibility to preeclampsia: roles of cytosineto-thymine substitution at nucleotide 677 of the gene for methylenetetrahydrofolate reductase, 68-base pair insertion at nucleotide 844 of the gene for cystathionine beta-synthase, and factor V Leiden mutation. Am J Obstet Gynecol 2001 184 6 1211-1217 (Pubitemid 32434275)
36. Livingston J C., Barton J R., Park V, Haddad B, Phillips O, Sibai B M. Maternal and fetal inherited thrombophilias are not related to the development of severe preeclampsia. Am J Obstet Gynecol 2001 185 1 153-157 (Pubitemid 32681810)
37. Grandone E, Margaglione M, Colaizzo D et al. Prothrombotic genetic risk factors and the occurrence of gestational hypertension with or without proteinuria. Thromb Haemost 1999 81 3 349-352 (Pubitemid 29116601)
38. Higgins J R., Kaiser T, Moses E K., North R, Brennecke S P. Prothrombin G20210A mutation: is it associated with pre-eclampsia? Gynecol Obstet Invest 2000 50 4 254-257
39. Sohda S, Arinami T, Hamada H, Yamada N, Hamaguchi H, Kubo T. Methylenetetrahydrofolate reductase polymorphism and pre-eclampsia. J Med Genet 1997 34 6 525-526 (Pubitemid 27268138)
40. Williams M A., Sanchez S E., Zhang C, Bazul V. Methylenetetrahydrofolate reductase 677 C>T polymorphism and plasma folate in relation to pre-eclampsia risk among Peruvian women. J Matern Fetal Neonatal Med 2004 15 5 337-344 (Pubitemid 38916366)
41. Laivuori H, Lahermo P, Ollikainen V et al. Susceptibility loci for preeclampsia on chromosomes 2p25 and 9p13 in Finnish families. Am J Hum Genet 2003 72 1 168-177 (Pubitemid 36056853)
42. Lin J, August P. Genetic thrombophilias and preeclampsia: a meta-analysis. Obstet Gynecol 2005 105 1 182-192 (Pubitemid 40189930)
43. Kosmas I P., Tatsioni A, Ioannidis J PA. Association of Leiden mutation in factor V gene with hypertension in pregnancy and pre-eclampsia: a meta-analysis. J Hypertens 2003 21 7 1221-1228
44. Dudding T E., Attia J. The association between adverse pregnancy outcomes and maternal factor V Leiden genotype: a meta-analysis. Thromb Haemost 2004 91 4 700-711 (Pubitemid 38477450)
45. GOPEC Consortium. Disentangling fetal and maternal susceptibility for pre-eclampsia: a British multicenter candidate-gene study. Am J Hum Genet 2005 77 1 127-131
46. Nejatizadeh A, Stobdan T, Malhotra N, Pasha M A. The genetic aspects of pre-eclampsia: achievements and limitations. Biochem Genet 2008 46 7-8 451-479
47. Sprengers E D., Kluft C. Plasminogen activator inhibitors. Blood 1987 69 2 381-387 (Pubitemid 17022002)
48. Carrel R W., Boswell D R. Serpins: the superfamily of plasma serine proteinase inhibitors. In: Barrett A J. Salvesen G eds. Proteinase Inhibitors. Amsterdam, The Netherlands Elsevier Science 1986 403-420
49. Gils A, Declerck P J. Structure-function relationships in serpins: current concepts and controversies. Thromb Haemost 1998 80 4 531-541 (Pubitemid 28479333)
50. Laskowski M Jr, Kato I. Protein inhibitors of proteinases. Annu Rev Biochem 1980 49 593-626
51. Pannekoek H, Veerman H, Lambers H et al. Endothelial plasminogen activator inhibitor (PAI): a new member of the Serpin gene family. EMBO J 1986 5 10 2539-2544
52. Loskutoff D J., van Mourik J A., Erickson L A., Lawrence D. Detection of an unusually stable fibrinolytic inhibitor produced by bovine endothelial cells. Proc Natl Acad Sci U S A 1983 80 10 2956-2960 (Pubitemid 13104156)
53. Coleman P L., Barouski P A., Gelehrter T D. The dexamethasone-induced inhibitor of fibrinolytic activity in hepatoma cells. A cellular product which specifically inhibits plasminogen activation. J Biol Chem 1982 257 8 4260-4264 (Pubitemid 12080148)
54. Kruithof E K., Tran-Thang C, Ransijn A, Bachmann F. Demonstration of a fast-acting inhibitor of plasminogen activators in human plasma. Blood 1984 64 4 907-913 (Pubitemid 14003614)
55. Erickson L A., Ginsberg M H., Loskutoff D J. Detection and partial characterization of an inhibitor of plasminogen activator in human platelets. J Clin Invest 1984 74 4 1465-1472 (Pubitemid 15200241)
56. Nordenhem A, Wiman B. Plasminogen activator inhibitor-1 (PAI-1) content in platelets from healthy individuals genotyped for the 4G/5G polymorphism in the PAI-1 gene. Scand J Clin Lab Invest 1997 57 5 453-461 (Pubitemid 27344919)
57. Hekman C M., Loskutoff D J. Endothelial cells produce a latent inhibitor of plasminogen activators that can be activated by denaturants. J Biol Chem 1985 260 21 11581-11587 (Pubitemid 16252157)
58. Angleton P, Chandler W L., Schmer G. Diurnal variation of tissue-type plasminogen activator and its rapid inhibitor (PAI-1). Circulation 1989 79 1 101-106 (Pubitemid 19043680)
59. Loskutoff D J., Linders M, Keijer J, Veerman H, van Heerikhuizen H, Pannekoek H. Structure of the human plasminogen activator inhibitor 1 gene: nonrandom distribution of introns. Biochemistry 1987 26 13 3763-3768 (Pubitemid 17127448)
60. Grenett H E., Wolkowicz P E., Benza R L., Tresnak J K., Wheeler C G., Booyse F M. Identification of a 251-bp fragment of the PAI-1 gene promoter that mediates the ethanol-induced suppression of PAI-1 expression. Alcohol Clin Exp Res 2001 25 5 629-636 (Pubitemid 32448620)
61. Asselbergs F W., Pattin K, Snieder H, Hillege H L., van Gilst W H., Moore J H. Genetic architecture of tissue-type plasminogen activator and plasminogen activator inhibitor-1. Semin Thromb Hemost 2008 34 6 562-568
62. Reich D E., Cargill M, Bolk S et al. Linkage disequilibrium in the human genome. Nature 2001 411 6834 199-204 (Pubitemid 32455179)
63. Patil N, Berno A J., Hinds D A. et al. Blocks of limited haplotype diversity revealed by high-resolution scanning of human chromosome 21. Science 2001 294 5547 1719-1723 (Pubitemid 33104843)
64. Kathiresan S, Gabriel S B., Yang Q et al. Comprehensive survey of common genetic variation at the plasminogen activator inhibitor-1 locus and relations to circulating plasminogen activator inhibitor-1 levels. Circulation 2005 112 12 1728-1735 (Pubitemid 41368148)
65. Morange P E., Saut N, Alessi M C. et al. Association of plasminogen activator inhibitor (PAI)-1 (SERPINE1) SNPs with myocardial infarction, plasma PAI-1, and metabolic parameters: the HIFMECH study. Arterioscler Thromb Vasc Biol 2007 27 10 2250-2257 (Pubitemid 350287257)
66. Ye S, Green F R., Scarabin P Y. et al. The 4G/5G genetic polymorphism in the promoter of the plasminogen activator inhibitor-1 (PAI-1) gene is associated with differences in plasma PAI-1 activity but not with risk of myocardial infarction in the ECTIM study. Etude CasTemoins de I'nfarctus du Mycocarde. Thromb Haemost 1995 74 3 837-841
67. Margaglione M, Cappucci G, d'Addedda M et al. PAI-1 plasma levels in a general population without clinical evidence of atherosclerosis: relation to environmental and genetic determinants. Arterioscler Thromb Vasc Biol 1998 18 4 562-567 (Pubitemid 28177895)
68. Eriksson P, Kallin B, van 't Hooft F M., Bvenholm P, Hamsten A. Allele-specific increase in basal transcription of the plasminogen-activator inhibitor 1 gene is associated with myocardial infarction. Proc Natl Acad Sci U S A 1995 92 6 1851-1855
69. Grubic N, Stegnar M, Peternel P, Kaider A, Binder B R. A novel G/A and the 4G/5G polymorphism within the promoter of the plasminogen activator inhibitor-1 gene in patients with deep vein thrombosis. Thromb Res 1996 84 6 431-443 (Pubitemid 27033603)
70. Moore J H., Smolkin M E., Lamb J M., Brown N J., Vaughan D E. The relationship between plasma t-PA and PAI-1 levels is dependent on epistatic effects of the ACE I/D and PAI-1 4G/5G polymorphisms. Clin Genet 2002 62 1 53-59 (Pubitemid 36372697)
71. Asselbergs F W., Williams S M., Hebert P R. et al. Epistatic effects of polymorphisms in genes from the renin-angiotensin, bradykinin, and fibrinolytic systems on plasma t-PA and PAI-1 levels. Genomics 2007 89 3 362-369 (Pubitemid 46205121)
72. Pérez-Martnez P, Adarraga-Cansino M D., Fernández de la Puebla R A. et al. The -675 4G/5G polymorphism at the Plasminogen Activator Inhibitor 1 (PAI-1) gene modulates plasma Plasminogen Activator Inhibitor 1 concentrations in response to dietary fat consumption. Br J Nutr 2008 99 4 699-702
73. Gohil R, Peck G, Sharma P. The genetics of venous thromboembolism. A meta-analysis involving approximately 120,000 cases and 180,000 controls. Thromb Haemost 2009 102 2 360-370
74. Ye Z, Liu E H., Higgins J P. et al. Seven haemostatic gene polymorphisms in coronary disease: meta-analysis of 66,155 cases and 91,307 controls. Lancet 2006 367 9511 651-658 (Pubitemid 43289155)
75. Hermans P WM, Hibberd M L., Booy R et al, Meningococcal Research Group. 4G/5G promoter polymorphism in the plasminogen-activator-inhibitor-1 gene and outcome of meningococcal disease. Lancet 1999 354 9178 556-560 (Pubitemid 29381370)
76. Rossaak J I., Van Rij A M., Jones G T., Harris E L. Association of the 4G/5G polymorphism in the promoter region of plasminogen activator inhibitor-1 with abdominal aortic aneurysms. J Vasc Surg 2000 31 5 1026-1032 (Pubitemid 30339505)
77. Lin S, Huiya Z, Bo L, Wei W, Yongmei G. The plasminogen activator inhibitor-1 (PAI-1) gene -844 A/G and -675 4G/5G promoter polymorphism significantly influences plasma PAI-1 levels in women with polycystic ovary syndrome. Endocrine 2009 36 3 503-509
78. Ma Z, Paek D, Oh C K. Plasminogen activator inhibitor-1 and asthma: role in the pathogenesis and molecular regulation. Clin Exp Allergy 2009 39 8 1136-1144
79. Försti A, Lei H, Tavelin B et al. Polymorphisms in the genes of the urokinase plasminogen activation system in relation to colorectal cancer. Ann Oncol 2007 18 12 1990-1994 (Pubitemid 350286237)
80. Minisini A M., Fabbro D, Di Loreto C et al. Markers of the uPA system and common prognostic factors in breast cancer. Am J Clin Pathol 2007 128 1 112-117 (Pubitemid 47121723)
81. Lykke J A., Langhoff-Roos J, Young B, Paidas M J. Population-based investigations to study the association of cardiovascular polymorphisms and adverse pregnancy outcome. Semin Perinatol 2007 31 4 219-222 (Pubitemid 47348104)
82. Estellés A, Gilabert J, Keeton M et al. Altered expression of plasminogen activator inhibitor type 1 in placentas from pregnant women with preeclampsia and/or intrauterine fetal growth retardation. Blood 1994 84 1 143-150 (Pubitemid 24193815)
83. Estellés A, Gilabert J, Grancha S et al. Abnormal expression of type 1 plasminogen activator inhibitor and tissue factor in severe preeclampsia. Thromb Haemost 1998 79 3 500-508 (Pubitemid 28120779)
84. Yamada N, Arinami T, Yamakawa-Kobayashi K et al. The 4G/5G polymorphism of the plasminogen activator inhibitor-1 gene is associated with severe preeclampsia. J Hum Genet 2000 45 3 138-141 (Pubitemid 30324115)
85. Glueck C J., Kupferminc M J., Fontaine R N., Wang P, Weksler B B., Eldor A. Genetic hypofibrinolysis in complicated pregnancies. Obstet Gynecol 2001 97 1 44-48 (Pubitemid 32057154)
86. Fabbro D, D'Elia A V., Spizzo R et al. Association between plasminogen activator inhibitor 1 gene polymorphisms and preeclampsia. Gynecol Obstet Invest 2003 56 1 17-22 (Pubitemid 37025942)
87. Morrison E R., Miedzybrodzka Z H., Campbell D M. et al. Prothrombotic genotypes are not associated with pre-eclampsia and gestational hypertension: results from a large population-based study and systematic review. Thromb Haemost 2002 87 5 779-785 (Pubitemid 34516601)
88. Pegoraro R J., Hira B, Rom L, Moodley J. Plasminogen activator inhibitor type 1 (PAI1) and platelet glycoprotein IIIa (PGIIIa) polymorphisms in black South Africans with pre-eclampsia. Acta Obstet Gynecol Scand 2003 82 4 313-317 (Pubitemid 36570714)
89. Häkli T, Romppanen E L., Hiltunen M, Helisalmi S, Punnonen K, Heinonen S. Plasminogen activator inhibitor-1 polymorphism in women with pre-eclampsia. Genet Test 2003 7 3 265-268 (Pubitemid 37363089)
90. Gerhardt A, Goecke T W., Beckmann M W. et al. The G20210A prothrombin-gene mutation and the plasminogen activator inhibitor (PAI-1) 5G/5G genotype are associated with early onset of severe preeclampsia. J Thromb Haemost 2005 3 4 686-691 (Pubitemid 41647881)
91. De Maat M P., Jansen M W., Hille E T. et al. Preeclampsia and its interaction with common variants in thrombophilia genes. J Thromb Haemost 2004 2 9 1588-1593 (Pubitemid 40186175)
92. Tempfer C B., Jirecek S, Riener E K. et al. Polymorphisms of thrombophilic and vasoactive genes and severe preeclampsia: a pilot study. J Soc Gynecol Investig 2004 11 4 227-231 (Pubitemid 38561367)
93. Kobashi G. Genetic and environmental factors associated with the development of hypertension in pregnancy. J Epidemiol 2006 16 1 1-8
94. Dalmáz C A., Santos K G., Botton M R., Tedoldi C L., Roisenberg I. Relationship between polymorphisms in thrombophilic genes and preeclampsia in a Brazilian population. Blood Cells Mol Dis 2006 37 2 107-110 (Pubitemid 44416276)
95. Wiwanitkit V. Correlation between plasminogen activator inhibitor-1 4G/5G polymorphism and pre-eclampsia: an appraisal. Arch Gynecol Obstet 2006 273 6 322-324