Platelet receptor and clotting factor polymorphisms as genetic risk factors for thromboembolic complications in heparin-induced thrombocytopenia

Pharmacogenetics

Volumn 13, Issue 5, 2003, Pages 253-258

  Carlsson, Lena E ^a   Lubenow, Norbert ^a   Blumentritt, Carmen ^a   Kempf, Reiner ^a   Papenberg, Stephanie ^a   Schröder, Winnie ^a   Eichler, Petra ^a   Herrmann, Falko H ^a   Santoso, Sentot ^b   Greinacher, Andreas ^a,c  

^a UNIVERSITY OF GREIFSWALD   (Germany)

^b JUSTUS LIEBIG UNIVERSITY   (Germany)

^c Dept of Immunol/Transfus Medicine ^*  (Germany)

Author keywords

Glycoprotein; Heparin induced thrombocytopenia; Platelet; Polymorphism

Indexed keywords

BLOOD CLOTTING FACTOR; BLOOD CLOTTING FACTOR 5; BLOOD CLOTTING FACTOR 5 LEIDEN; BLOOD CLOTTING FACTOR 9; FIBRINOGEN RECEPTOR; GLYCOPROTEIN IB; HEPARIN; PROCOAGULANT; PROTHROMBIN; THROMBOCYTE RECEPTOR; VERY LATE ACTIVATION ANTIGEN 2;

ADULT; AGED; ALLELE; ARTICLE; CORRELATION ANALYSIS; DISEASE SEVERITY; FEMALE; GENETIC POLYMORPHISM; GENETIC RISK; GENOTYPE; HEMOSTASIS; HUMAN; IMMUNE SYSTEM; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; PROGNOSIS; RISK FACTOR; SEX DIFFERENCE; THROMBOCYTOPENIA; THROMBOEMBOLISM; VARIABLE NUMBER OF TANDEM REPEAT;

AMINO ACID SUBSTITUTION; ANTICOAGULANTS; BLOOD COAGULATION FACTORS; GENE FREQUENCY; HEPARIN; HUMANS; MINISATELLITE REPEATS; MUTATION, MISSENSE; PLATELET GLYCOPROTEIN GPIB-IX COMPLEX; PLATELET MEMBRANE GLYCOPROTEINS; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; RISK FACTORS; THROMBOCYTOPENIA;

EID: 12444257703     PISSN: 0960314X     EISSN: None     Source Type: Journal    
DOI: 10.1097/00008571-200305000-00003     Document Type: Article

References (42)

1. Warkentin TE, Levine MN, Hirsh J, Horsewood P, Roberts RS, Gent M, et al. Heparin-induced thrombocytopenia in patients treated with low-molecular-weight heparin or unfractionated heparin. N Engl J Med 1995; 332:1330-1335.
2. Warkentin TE, Chong BH, Greinacher A. Heparin-induced thrombocytopenia: towards consensus. Thromb Haemost 1998; 79:1-7.
3. Weismann ER, Tobin RW. Arterial embolism occurring during systemic heparin therapy. Arch Surg 1958; 76:219-227.
4. Greinacher A, Eichler P, Lubenow N, Kwasny H, Luz M. Heparin-induced thrombocytopenia with thromboembolic complications: meta-analysis of 2 prospective trials to assess the value of parenteral treatment with lepirudin and its therapeutic aPTT range. Blood 2000; 96:846-851.
5. Newman PJ, Derbes RS, Aster RH. The human platelet alloantigens, PIA1 and PIA2, are associated with a leucine33/proline33 amino acid polymorphism in membrane glycoprotein IIIa, and are distinguishable by DNA typing. J Clin Invest 1989; 83:1778-1781.
6. Lyman S, Aster RH, Visentin GP, Newman PJ. Polymorphism of human platelet membrane glycoprotein IIb associated with the Baka/Bakb alloantigen system. Blood 1990; 75:2343-2348.
7. Santoso S, Kalb R, Walka M, Kiefel V, Mueller-Eckhardt C, Newman PJ. The human platelet alloantigens Br(a) and Brb are associated with a single amino acid polymorphism on glycoprotein Ia (integrin subunit alpha 2). J Clin Invest 1993; 92:2427-2432.
8. Kunicki TJ, Kritzik M, Annis DS, Nugent DJ. Hereditary variation in platelet integrin alpha 2 beta 1 density is associated with two silent polymorphisms in the alpha 2 gene coding sequence. Blood 1997; 89:1939-1943.
9. Kritzik M, Savage B, Nugent DJ, Santoso S, Rugged ZM, Kunicki TJ. Nucleotide polymorphisms in the alpha2 gene define multiple alleles that are associated with differences in platelet alpha2 beta1 density. Blood 1998; 92:2382-2388.
10. Lopez JA, Ludwig EH, McCarthy BJ. Polymorphism of human glycoprotein Ib alpha results from a variable number of tandem repeats of a 13-amino acid sequence in the mucin-like macroglycopeptide region. Structure/function implications. J Biol Chem 1992; 267;10055-10061.
11. Afshar-Kharghan V, Li CQ, Khoshnevis-Asl M, Lopez JA. Kozak sequence polymorphism of the glycoprotein (GP) Ibalpha gene is a major determinant of the plasma membrane levels of the platelet GP Ib-IX-V complex. Blood 1999; 94:186-191.
12. Kuijpers RW, Faber NM, Cuypers HT, Ouwehand WH, von dem Borne AE. NH2-terminal globular domain of human platelet glycoprotein Ib alpha has a methionine 145/threonine145 amino acid polymorphism, which is associated with the HPA-2 (Ko) alloantigens. J Clin Invest 1992; 89:381-384.
13. Dahlback B, Carlsson M, Svensson PJ. Familial thrombophilia due to a previously unrecognized mechanism characterized by poor anticoagulant response to activated protein C: prediction of a cofactor to activated protein C. Proc Natl Acad Sci USA 1993; 90:1004-1008.
14. Bertina RM, Koeleman BP, Koster T, Rosendaal FR, Dirven RJ, de Ronde H, et al. Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature 1994; 369:64-67.
15. 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; 88:3698-3703.
16. Frosst P, Blom HJ, Milos R, Goyette P, Sheppard CA, Matthews RG, et al. A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nature Genet 1995; 10:111-113.
17. Greinacher A, Michels I, Kiefel V, Mueller-Eckhardt C. A rapid and sensitive test for diagnosing heparin-associated thrombocytopenia, Thromb Haemost 1991; 66:734-736.
18. Kluter H, Fehlau K, Panzer S, Kirchner H, Bein G. Rapid typing for human platelet antigen systems-1, -2, -3 and -5 by PCR amplification with sequence-specific primers. Vox Sang 1996; 71:121-125.
19. Ishida F, Furihata K, Ishida K, Yan J, Kitano K, Kiyosawa K, et al. The largest variant of platelet glycoprotein Ib alpha has four tandem repeats of 13 amino acids in the macroglycopeptide region and a genetic linkage with methionine145, Blood 1995; 86:1357-1360.
20. Santoso S, Zimmermann P, Sachs UJ, Gardemann A. The impact of the Kozak sequence polymorphism of the glycoprotein Ib alpha gene on the risk and extent of coronary heart disease. Thromb Haemost 2002; 87:345-346.
21. Santoso S, Kunicki TJ, Kroll H, Haberbosch W, Gardemann A. Association of the platelet glycoprotein la C807T gene polymorphism with nonfatal myocardial infarction in younger patients. Blood 1999; 93;2449-2453.
22. Blasczyk R, Ritter M, Thiede C, Wehling J, Hintz G, Neubauer A, et al. Simple and rapid detection of factor V Leiden by allele-specific PCR amplification. Thromb Haemost 1996; 75:757-759.
23. Campbell NR, Hull RD, Brant R, Hogan DB, Pineo GF, Raskob GE. Different effects of heparin in males and females. Clin Invest Med 1998; 21:71-78.
24. Khetawat G, Faraday N, Nealen ML, Vijayan KV, Bolton E, Noga SJ, et al. Human megakaryocytes and platelets contain the estrogen receptor beta and androgen receptor (AR): testosterone regulates AR expression. Blood 2000; 95:2289-2296.
25. Nealen ML, Vijayan KV, Bolton E, Bray PF. Human platelets contain a glycosylated estrogen receptor beta. Circ Res 2001; 88:438-442.
26. Faraday N, Goldschmidt-Clermont PJ, Bray PF. Gender differences in platelet GPIIb-IIIa activation. Thromb Haemost 1997; 77:748-754.
27. Haque SF, Matsubayashi H, Izumi S, Sugi T, Arai T, Kondo A, et al. Sex difference in platelet aggregation detected by new aggregometry using light scattering. Endocr J 2001; 48:33-41.
28. Svensson PJ, Benoni G, Fredin H, Bjorgell O, Nilsson P, Hedlund U, et al. Female gender and resistance to activated protein C (FV:Q506) as potential risk factors for thrombosis after hip arthroplasty. Thromb Haemost 1997; 78:993-996.
29. Moshfegh K, Wuillemin WA, Redondo M, Lammle B, Beer JH, Liechti-Gallati S, et al. Association of two silent polymorphisms of platelet glycoprotein Ia/IIa receptor with risk of myocardial infarction: a case-control study. Lancet 1999; 353:351-354.
30. Matsubara Y, Murata M, Maruyama T, Handa M, Yamagata N, Watanabe G, et al. Association between diabetic retinopathy and genetic variations in alpha2beta1 integrin, a platelet receptor for collagen. Blood 2000; 95:1560-1564.
31. Carlsson LE, Santoso S, Spitzer C, Kessler C, Greinacher A. The alpha2 gene coding sequence T807/A873 of the platelet collagen receptor integrin alpha2beta1 might be a genetic risk factor for the development of stroke in younger patients. Blood 1999; 93:3583-3586.
32. Corral J, Lozano ML, Gonzalez-Conejero R, Martinez C, Iniesta JA, Rivera J, et al. A common polymorphism flanking the ATG initiator codon of GPIb alpha does not affect expression and is not a major risk factor for arterial thrombosis. Thromb Haemost 2000; 83:23-28.
33. Herrmann FH, Koesling M, Schroder W, Altman R, Jimenez Bonilla R, Lopaciuk S, et al. Prevalence of factor V Leiden mutation in various populations. Genet Epidemiol 1997; 14:403-411.
34. Schroder W, Koesling M, Wulff K, Wehnert M, Herrmann FH. Large-scale screening for factor V Leiden mutation in a North-Eastern German population. Haemostasis 1996; 26:233-236.
35. Lee DH, Warkentin TE, Denomme GA, Lagrotteria DD, Kelton JG. Factor V Leiden and thrombotic complications in heparin-induced thrombocytopenia. Thromb Haemost 1998; 79:50-53.
36. Warmerdam PA, van de Winkel JG, Gosselin EJ, Capel PJ. Molecular basis for a polymorphism of human Fc gamma receptor II (CD32). J Exp Med 1990; 172:19-25.
37. Burgess JK, Lindeman R, Chesterman CN, Cheng BH. Single amino acid mutation of Fc gamma receptor is associated with the development of heparin-induced thrombocytopenia. Br J Haematol 1995; 91:761-766.
38. Brandt JT, Isenhart CE, Osborne JM, Ahmed A, Anderson CL. On the role of platelet Fc gamma RIIa phenotype in heparin-induced thrombocytopenia. Thromb Haemost 1995; 74:1564-1572.
39. Denomme GA, Warkentin TE, Horsewood P, Sheppard JA, Warner MN, Kelton JG. Activation of platelets by sera containing IgG1 heparin-dependent antibodies: an explanation for the predominance of the Fc gammaRIIa 'low responder' (his131) gene in patients with heparin-induced thrombocytopenia. J Lab Clin Med 1997; 130:278-284.
40. Arepally G, McKenzie SE, Jiang XM, Poncz M, Cines DB Fc gamma RIIA H/R 131 polymorphism, subclass-specific IgG anti-heparin/platelet factor 4 antibodies and clinical course in patients with heparin-induced thrombocytopenia and thrombosis. Blood 1997; 89:370-375.
41. Bachelot-Loza C, Saffroy R, Lasne D, Chatellier G, Aiach M, Rendu F. Importance of the FcgammaRIIa-Arg/His-131 polymorphism in heparin-induced thrombocytopenia diagnosis. Thromb Haemost 1998; 79:523-528.
42. Carlsson LE, Santoso S, Baurichter G, Kroll H, Papenberg S, Eichler P, et al. Heparin-induced thrombocytopenia: new insights into the impact of the FcgammaRIIa-R-H131 polymorphism. Blood 1998; 92:1526-1531.