Role of functional plasminogen-activator-inhibitor-1 4G/5G promoter polymorphism in susceptibility, severity, and outcome of meningococcal disease in Caucasian children

Critical Care Medicine

Volumn 31, Issue 12, 2003, Pages 2788-2793

  Haralambous, Elene ^a   Hibberd, Martin L ^a   Hermans, Peter W M ^b   Ninis, Nelly ^a   Nadel, Simon ^a   Levin, Michael ^a  

^a ST MARY S HOSPITAL   (United Kingdom)

^b SOPHIA CHILDREN S HOSPITAL   (Netherlands)

Author keywords

Genetics; Meningococcal; Pediatric; Plasminogen activator inhibitor 1; Sepsis; Severity

Indexed keywords

PLASMINOGEN ACTIVATOR INHIBITOR 1;

ADOLESCENT; ARTICLE; CAUCASIAN; CHI SQUARE DISTRIBUTION; CHILD; CLINICAL FEATURE; COHORT ANALYSIS; CONTROLLED STUDY; DISEASE COURSE; DISEASE SEVERITY; DNA EXTRACTION; FEMALE; GENE FREQUENCY; GENETIC POLYMORPHISM; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENOTYPE; HOMOZYGOSITY; HUMAN; INFANT; LOGISTIC REGRESSION ANALYSIS; MAJOR CLINICAL STUDY; MALE; MENINGOCOCCEMIA; MORTALITY; PRIORITY JOURNAL; PROMOTER REGION; SURVIVAL RATE; TREATMENT OUTCOME; UNITED KINGDOM; UNIVERSITY HOSPITAL; VASCULAR DISEASE; VULNERABLE POPULATION;

ADOLESCENT; CASE-CONTROL STUDIES; CHI-SQUARE DISTRIBUTION; CHILD; CHILD, PRESCHOOL; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; GREAT BRITAIN; HUMANS; LOGISTIC MODELS; MALE; MENINGOCOCCAL INFECTIONS; PEDIGREE; PLASMINOGEN ACTIVATOR INHIBITOR 1; POLYMORPHISM, GENETIC; PREDICTIVE VALUE OF TESTS; PROMOTER REGIONS (GENETICS); RISK FACTORS; SEVERITY OF ILLNESS INDEX; STATISTICS, NONPARAMETRIC; TREATMENT OUTCOME;

EID: 0345860914     PISSN: 00903493     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.CCM.0000100122.57249.5D     Document Type: Article

References (56)

1. van Deuren M, Brandtzaeg P, van der Meer JW: Update on meningococcal disease with emphasis on pathogenesis and clinical management. Clin Microbiol Rev 2000; 13: 144-166
2. Pollard A, Faust S, Levin M: Meningitis and meningococcal septicaemia. J R Coll Physicians 1998; 32:319-328
3. Nadel S, Levin M, Habibi P: Treatment of meningococcal disease in childhood. In: Meningococcal Disease. Cartwright K (Ed). Chichester, UK, Wiley, 1995, pp 207-243
4. Brandtzaeg P: Pathogenesis of meningococcal infections. In: Meningococcal Disease. Cartwright K (Ed). Chichester, UK, Wiley, 1995, pp 71-114
5. Brandtzaeg P, Mollnes TE, Kierulf P: Complement activation and endotoxin levels in systemic meningococcal disease. J Infect Dis 1989; 160:58-65
6. van Deuren M, van der Ven-Jongedrijg J, Bartelink A, et al: Correlation between proinflammatory cytokines and anti-inflammatory mediators and the severity of disease in meningococcal infections. J Infect Dis 1995; 172:433-439
7. Alpert G, Baldwin G, Thompson C, et al: Limulus antilipopolysaccharide factor protects rabbits from meningococcal endotoxin shock. J Infect Dis 1992; 165:494-500
8. Caputo GL, Baldwin G, Alpert G, et al: Effect of meningococcal endotoxin in a rabbit model of shock. Circ Shock 1992; 36: 104-112
9. Brandtzaeg P, Sandset P, Joo G, et al: The quantitative association of plasma endotoxin, antithrombin, protein C, extrinsic pathway inhibitor and fibrinopeptide A in systemic meningococcal disease. Thromb Res 1989; 55:459-470
10. Toews W, Bass J: Skin manifestations of meningococcal infection: An immediate indicator of prognosis. Am J Dis Child 1974; 127: 173-176
11. Steven N, Wood M: The clinical spectrum of meningococcal disease. In: Meningococcal Disease. Cartwright K (Ed). Chichester, UK, Wiley, 1995, pp 177-205
12. Bevilacqua MP, Pober JS, Majeau GR, et al: Interleukin 1 (IL-1) induces biosynthesis and cell surface expression of procoagulant activity in human vascular endothelial cells. J Exp Med 1984; 160:618-623
13. Gregory SA, Morrissey JH, Edgington TS: Regulation of tissue factor gene expression in the monocyte procoagulant response to endotoxin. Mol Cell Biol 1989; 9:2752-2755
14. Mackman N: Regulation of the tissue factor gene. Faseb J 1995; 9:883-889
15. Conkling PR, Greenberg CS, Weinberg JB: Tumor necrosis factor induces tissue factor-like activity in human leukemia cell line U937 and peripheral blood monocytes. Blood 1988; 72:128-133
16. Heyderman RS, Klein NJ, Shennan GI, et al: Deficiency of prostacyclin production in meningococcal shock. Arch Dis Child 1991; 66: 1296-1299
17. Brandtzaeg P, Sandset PM, Joo GB, et al: The quantitative association of plasma endotoxin, antithrombin, protein C, extrinsic pathway inhibitor and fibrinopeptide A in systemic meningococcal disease. Thromb Res 1989; 55:459-470
18. Sheth SB, Carvalho AC: Protein S and C alterations in acutely ill patients. Am J Hematol 1991; 36:14-19
19. Fourrier F, Lestavel P, Chopin C, et al: Meningococcemia and purpura fulminans in adults: Acute deficiencies of proteins C and S and early treatment with antithrombin III concentrates. Intensive Care Med 1990; 16: 121-124
20. Faust SN, Heyderman RS, Levin M: Coagulation in severe sepsis: A central role for thrombomodulin and activated protein C. Crit Care Med 2001; 29:S62-S87
21. Faust SN, Levin M, Harrison OB, et al: Dysfunction of endothelial protein C activation in severe meningococcal sepsis. N Engl J Med 2001; 345:408-416
22. Eley B, Levin M: Purpura fulminans. In: Textbook of Pediatric Dermatology. Harper J, Oranje A, Prose N (Eds). Abingdon, UK, Blackwell Science, 2000, pp 1574-1587
23. Brandtzaeg P, Joo G, Brusletto B, et al: Plasminogen activator inhibitor 1 and 2, alpha-2-antiplasmin, plasminogen, and endotoxin levels in systemic meningococcal disease. Thromb Res 1990; 57:271-278
24. Suffredini A, Harpel P, Parrillo J: Promotion and subsequent inhibition of plasminogen activation after administration of intravenous endotoxin to normal subjects. N Engl J Med 1989; 320:1165-1172
25. Ny T, Sawdey M, Lawrence D, et al: Cloning and sequence of a cDNA coding for the human beta-migrating endothelial-cell-type plasminogen activator inhibitor. Proc Natl Acad Sci USA 1986; 83:6776-6780
26. Pannekoek H, Veerman H, Lambers H, et al: Endothelial plasminogen activator inhibitor (PAI): A new member of the serpin gene family. EMBO J 1986; 5:2539-2544
27. Aznar J, Estelles A, Tormo G, et al: Plasminogen activator inhibitor activity and other fibrinolytic variables in patients with coronary artery disease. Br Heart J 1988; 59: 535-541
28. Balta G, Altay C, Gurgey A: PAI-1 gene 4G/5G genotype: A risk factor for thrombosis in vessels of internal organs. Am J Hematol 2002; 71:89-93
29. Hamsten A, Wiman B, de Faire U, et al: Increased plasma levels of a rapid inhibitor of tissue plasminogen activator in young survivors of myocardial infarction. N Engl J Med 1985; 313:1557-1563
30. Menges T, Hermans PW, Little SG, et al: Plasminogen-activator-inhibitor- 1 4G/5G promoter polymorphism and prognosis of severely injured patients. Lancet 2001; 357: 1096-1097
31. Paramo JA, Colucci M, Collen D, et al: Plasminogen activator inhibitor in the blood of patients with coronary artery disease. BMJ 1985; 291:573-574
32. Auwerx J, Bouillon R, Collen D, et al: Tissue-type plasminogen activator antigen and plasminogen activator inhibitor in diabetes mellitus. Arteriosclerosis 1988; 8:68-72
33. Margaglione M, Di Minno G, Grandone E, et al: Abnormally high circulation levels of tissue plasminogen activator and plasminogen activator inhibitor-1 in patients with a history of ischemic stroke. Arterioscler Thromb 1994; 14:1741-1745
34. Thogersen AM, Jansson JH, Boman K, et al: High plasminogen activator inhibitor and tissue plasminogen activator levels in plasma precede a first acute myocardial infarction in both men and women: Evidence for the fibrinolytic system as an independent primary risk factor. Circulation 1998; 98:2241-2247
35. Eren M, Painter CA, Atkinson JB, et al: Age-dependent spontaneous coronary arterial thrombosis in transgenic mice that express a stable form of human plasminogen activator inhibitor-1. Circulation 2002; 106:491-496
36. Hermans P, Hibberd M, Booy R, et al: 4G/5G promoter polymorphism in the plasminogen-activator-inhibitor gene and outcome of meningococcal disease. Lancet 1999; 354: 556-560
37. Dawson S, Wiman B, Hamsten A, et al: The two allele sequences of a common polymorphism in the promoter of the plasminogen activator inhibitor-1 (PAI-1) gene respond differently to interleukin-1 in HepG2 cells. J Biol Chem 1993; 1993:10739-10745
38. Eriksson P, Kallin B, van't Hooft F, et al: Allele-specific increase in basal transcription of the plasminogen-activator inhibitor 1 gene is associated with myocardial infarction. Proc Natl Acad Sci USA 1995; 92: 1851-1855
39. Cooper DN, Nussbaum RL, Krawczak M: Proposed guidelines for papers describing DNA polymorphism-disease associations. Hum Genet 2002; 110:207-208
40. Pollack MM, Ruttimann UE, Getson PR: Pediatric risk of mortality (PRISM) score. Crit Care Med 1988; 16:1110-1116
41. Castellanos-Ortega A, Delgado-Rodriguez M: Comparison of the performance of two general and three specific scoring systems for meningococcal septic shock in children. Crit Care Med 2000; 28:2967-2973
42. Spielman R, McGinnis R, Ewens W: Transmission test for linkage disequilibrium: The insulin gene region and insulin-dependent diabetes mellitus (IDDM). Am J Hum Genet 1993; 52:506-515
43. Turner D, Choudhury F, Reynard M, et al: Typing of multiple single nucleotide polymorphisms in cytokine and receptor genes using SNaPshot. Hum Immunol 2002; 63: 508-513
44. Kohler H, Grant P: Plasminogen-activator inhibitor typel and coronary artery disease. N Engl J Med 2000; 342:1792-1801
45. Editorial. Freely associating. Nat Genet 1999; 22:1-2
46. Hirschhorn JN, Lohmueller K, Byrne E, et al: A comprehensive review of genetic association studies. Genet Med 2002; 4:45-61
47. Ioannidis JP, Ntzani EE, Trikalinos TA, et al: Replication validity of genetic association studies. Nat Genet 2001; 29:306-309
48. Warren HS, Suffredini AF, Eichacker PQ, et al: Risks and benefits of activated protein C treatment for severe sepsis. N Engl J Med 2002; 347:1027-1030
49. Bernard GR, Vincent JL, Laterre PF, et al: Efficacy and safety of recombinant human activated protein C for severe sepsis. N Engl J Med 2001; 344:699-709
50. de Fouw NJ, de Jong YF, Haverkate F, et al: Activated protein C increases fibrin clot lysis by neutralization of plasminogen activator inhibitor - No evidence for a cofactor role of protein S. Thromb Haemost 1988; 60: 328-333
51. Sakata Y, Loskutoff DJ, Gladson CL, et al: Mechanism of protein C-dependent clot lysis: Role of plasminogen activator inhibitor. Blood 1986; 68:1218-1223
52. Haralambous E, Weiss H, Radalowicz A, et al: Sibling familial risk ratio of meningococcal disease in UK Caucasians. Epidemiol Infect, In Press
53. Hibberd M, Sumiya M, Summerfield J, et al: Association of variants of the gene for mannose-binding lectin with susceptibility to meningococcal disease. Lancet 1999; 353: 1049-1053
54. Linton SM, Morgan BP: Properdin deficiency and meningococcal disease - Identifying those most at risk. Clin Exp Immunol 1999; 118:189-191
55. Spath PJ, Sjoholm AG, Fredrikson GN, et al: Properdin deficiency in a large Swiss family: Identification of a stop codon in the properdin gene, and association of meningococcal disease with lack of the IgG2 allotype marker G2m(n). Clin Exp Immunol 1999; 118: 278-284
56. Ross SC, Densen P: Complement deficiency states and infection: Epidemiology, pathogenesis and consequences of neisserial and other infections in an immune deficiency. Medicine (Baltimore) 1984; 63: 243-273