SNPs in ADAMTS13

Pharmacogenomics

Volumn 12, Issue 8, 2011, Pages 1147-1160

  Tseng, Sandra Chang ^a   Kimchi Sarfaty, Chava ^a  

^a CENTER FOR BIOLOGICS EVALUATION AND RESEARCH   (United States)

Author keywords

ADAMTS13; genetic variation; polymorphism; thrombocytopenic thrombotic purpura; von Willebrand factor cleaving protease

Indexed keywords

ALANINE; ARGININE; GLUTAMIC ACID; GLUTAMINE; HISTIDINE; ISOLEUCINE; LEUCINE; LYSINE; PROLINE; SERINE; THREONINE; TRYPTOPHAN; VALINE; VON WILLEBRAND FACTOR CLEAVING PROTEINASE;

ACUTE HEART INFARCTION; ADAMTS13 GENE; AMINO ACID SEQUENCE; CARDIOVASCULAR DISEASE; ETHNIC DIFFERENCE; GENE EXPRESSION; GENE FREQUENCY; GENE FUNCTION; GENE LINKAGE DISEQUILIBRIUM; GENE MUTATION; GENE SEQUENCE; GENE STRUCTURE; GENETIC DATABASE; GENETIC PREDISPOSITION; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INFLAMMATION; INTERSPECIFIC RELATIONSHIP; INTRON; MARKER GENE; PROTEIN DOMAIN; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM; THROMBOTIC THROMBOCYTOPENIC PURPURA;

ADAM PROTEINS; ANIMALS; CARDIOVASCULAR DISEASES; ETHNIC GROUPS; GENE FREQUENCY; HUMANS; INTRONS; POLYMORPHISM, SINGLE NUCLEOTIDE; SPECIES SPECIFICITY; VON WILLEBRAND FACTOR;

EID: 80051745098     PISSN: 14622416     EISSN: 17448042     Source Type: Journal    
DOI: 10.2217/pgs.11.66     Document Type: Review

References (76)

1. Gerritsen HE, Robles R, Lammle B, Furlan M. Partial amino acid sequence of purified von Willebrand factor-cleaving protease. Blood 98(6), 1654-1661 (2001).
2. Fujikawa K, Suzuki H, Mcmullen B, Chung D. Purification of human von Willebrand factor-cleaving protease and its identification as a new member of the metalloproteinase family. Blood 98(6), 1662-1666 (2001).
3. Levy GG, Nichols WC, Lian EC et al. Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura. Nature 413(6855), 488-494 (2001). (Pubitemid 32938741)
4. Zheng X, Chung D, Takayama TK, Majerus EM, Sadler JE, Fujikawa K. Structure of von Willebrand factor-cleaving protease (ADAMTS13), a metalloprotease involved in thrombotic thrombocytopenic purpura. J. Biol. Chem. 276(44), 41059-41063 (2001).
5. Tsai HM. Physiologic cleavage of von Willebrand factor by a plasma protease is dependent on its conformation and requires calcium ion. Blood 87(10), 4235-4244 (1996).
6. Furlan M, Robles R, Lammle B. Partial purification and characterization of a protease from human plasma cleaving von Willebrand factor to fragments produced by in vivo proteolysis. Blood 87(10), 4223-4234 (1996). (Pubitemid 26152266)
7. Tsai HM, Sussman II, Nagel RL. Shear stress enhances the proteolysis of von Willebrand factor in normal plasma. Blood 83(8), 2171-2179 (1994). (Pubitemid 24112728)
8. Dent JA, Berkowitz SD, Ware J, Kasper CK, Ruggeri ZM. Identification of a cleavage site directing the immunochemical detection of molecular abnormalities in type IIA von Willebrand factor. Proc. Natl Acad. Sci. USA 87(16), 6306-6310 (1990).
9. Soejima K, Matsumoto M, Kokame K et al. ADAMTS-13 cysteine-rich/spacer domains are functionally essential for von Willebrand factor cleavage. Blood 102(9), 3232-3237 (2003). (Pubitemid 37314760)
10. Zheng X, Nishio K, Majerus EM, Sadler JE. Cleavage of von Willebrand factor requires the spacer domain of the metalloprotease ADAMTS13. J. Biol. Chem. 278(32), 30136-30141 (2003). (Pubitemid 36962406)
11. Ai J, Smith P, Wang S, Zhang P, Zheng XL. The proximal carboxyl-terminal domains of ADAMTS13 determine substrate specificity and are all required for cleavage of von Willebrand factor. J. Biol. Chem. 280(33), 29428-29434 (2005). (Pubitemid 41177015)
12. Lotta LA, Garagiola I, Palla R, Cairo A, Peyvandi F. ADAMTS13 mutations and polymorphisms in congenital thrombotic thrombocytopenic purpura. Hum. Mutat. 31(1), 11-19 (2010).
13. Camilleri RS, Cohen H, Mackie IJ et al. Prevalence of the missense mutation R1060W in late onset adult thrombotic thrombocytopenic purpura. J. Thromb. Haemost. 6(2), 331-338 (2008).
14. Fujimura Y, Matsumoto M. Registry of 919 patients with thrombotic microangiopathies across Japan: database of Nara Medical University during 1998-2008. Intern. Med. 49(1), 7-15 (2010).
15. Peyvandi F, Ferrari S, Lavoretano S, Canciani MT, Mannucci PM. Von Willebrand factor cleaving protease (ADAMTS-13) and ADAMTS-13 neutralizing autoantibodies in 100 patients with thrombotic thrombocytopenic purpura. Br. J. Haematol. 127(4), 433-439 (2004). (Pubitemid 39536596)
16. Vesely SK, George JN, Lammle B et al. ADAMTS13 activity in thrombotic thrombocytopenic purpura-hemolytic uremic syndrome: relation to presenting features and clinical outcomes in a prospective cohort of 142 patients. Blood 102(1), 60-68 (2003). (Pubitemid 36759636)
17. Rieger M, Mannucci PM, Kremer Hovinga JM et al. ADAMTS13 autoantibodies in patients with thrombotic microangiopathies and other immunomediated diseases. Blood 106(4), 1262-1267 (2005). (Pubitemid 41129589)
18. Scheiflinger F, Knobl P, Trattner B et al. Nonneutralizing IgM and IgG antibodies to von Willebrand factor-cleaving protease (ADAMTS-13) in a patient with thrombotic thrombocytopenic purpura. Blood 102(9), 3241-3243 (2003). (Pubitemid 37314762)
19. Klaus C, Plaimauer B, Studt JDd et al. Epitope mapping of ADAMTS13 autoantibodies in acquired thrombotic thrombocytopenic purpura. Blood 103(12), 4514-4519 (2004). (Pubitemid 38745978)
20. Luken BM, Turenhout EA, Hulstein JJ, van Mourik JA, Fijnheer R, Voorberg J. The spacer domain of ADAMTS13 contains a major binding site for antibodies in patients with thrombotic thrombocytopenic purpura. Thromb. Haemost. 93(2), 267-274 (2005). (Pubitemid 40253731)
21. Studt JD, Hovinga JA, Radonic R et al. Familial acquired thrombotic thrombocytopenic purpura: ADAMTS13 inhibitory autoantibodies in identical twins. Blood 103(11), 4195-4197 (2004). (Pubitemid 38685362)
22. Claus RA, Bockmeyer CL, Budde U et al. Variations in the ratio between von Willebrand factor and its cleaving protease during systemic inflammation and association with severity and prognosis of organ failure. Thromb. Haemost. 101(2), 239-247 (2009).
23. Nguyen TC, Liu A, Liu L et al. Acquired ADAMTS-13 deficiency in pediatric patients with severe sepsis. Haematologica 92(1), 121-124 (2007). (Pubitemid 46232666)
24. Ono T, Mimuro J, Madoiwa S et al. Severe secondary deficiency of von Willebrand factor-cleaving protease (ADAMTS13) in patients with sepsis-induced disseminated intravascular coagulation: its correlation with development of renal failure. Blood 107(2), 528-534 (2006). (Pubitemid 43076375)
25. Mannucci PM, Vanoli M, Forza I, Canciani MT, Scorza R. Von Willebrand factor cleaving protease (ADAMTS-13) in 123 patients with connective tissue diseases (systemic lupus erythematosus and systemic sclerosis). Haematologica. 88(8), 914-918 (2003). (Pubitemid 37128091)
26. Lattuada A, Rossi E, Calzarossa C, Candolfi R, Mannucci PM. Mild to moderate reduction of a von Willebrand factor cleaving protease (ADAMTS-13) in pregnant women with HELLP microangiopathic syndrome. Haematologica 88(9), 1029-1034 (2003). (Pubitemid 37151154)
27. Zakarija A, Kwaan HC, Moake JL et al. Ticlopidine-and clopidogrel-associated thrombotic thrombocytopenic purpura (TTP): review of clinical, laboratory, epidemiological, and pharmacovigilance findings (1989-2008). Kidney Int. Suppl. (112), S20-S24 (2009).
28. Feys HB, Liu F, Dong N et al. ADAMTS-13 plasma level determination uncovers antigen absence in acquired thrombotic thrombocytopenic purpura and ethnic differences. J. Thromb. Haemost. 4(5), 955-962 (2006).
29. Tsai HM: ADAMTS13 and microvascular thrombosis. Expert Rev. Cardiovasc. Ther. 4(6), 813-825 (2006).
30. Galbusera M, Noris M, Remuzzi G. Inherited thrombotic thrombocytopenic purpura. Haematologica 94(2), 166-170 (2009).
31. Manea M, Karpman D. Molecular basis of ADAMTS13 dysfunction in thrombotic thrombocytopenic purpura. Pediatr. Nephrol. 24(3), 447-458 (2009).
32. Bohm M, Vigh T, Scharrer I. Evaluation and clinical application of a new method for measuring activity of von Willebrand factor-cleaving metalloprotease (ADAMTS13). Ann. Hematol. 81(8), 430-435 (2002). (Pubitemid 36067656)
33. Kokame K, Nobe Y, Kokubo Y, Okayama A, Miyata T. FRETS-VWF73, a first fluorogenic substrate for ADAMTS13 assay. Br. J. Haematol. 129(1), 93-100 (2005). (Pubitemid 40524057)
34. Dong JF, Moake JL, Nolasco L et al. ADAMTS-13 rapidly cleaves newly secreted ultralarge von Willebrand factor multimers on the endothelial surface under flowing conditions. Blood 100(12), 4033-4039 (2002). (Pubitemid 35396870)
35. Shenkman B. The role of ADAMT-13 in platelet adhesion in flow: methods for diagnosis of thrombotic thrombocytopenic purpura. Pathophysiol. Haemost. Thromb. 35(1-2), 98-102 (2006).
36. Peyvandi F, Palla R, Lotta LA, Mackie I, Scully MA, Machin SJ. ADAMTS-13 assays in thrombotic thrombocytopenic purpura. J. Thromb. Haemost. 8(4), 631-640 (2010).
37. International HapMap 3 Consortium; Altshuler DM, Gibbs RA et al. Integrating common and rare genetic variation in diverse human populations. Nature 467(7311), 52-58 (2010).
38. 1000 Genome Projects Consortium. A map of human genome variation from population-scale sequencing. Nature 467(7319), 1061-1073 (2010).
39. Kokame K, Matsumoto M, Soejima K et al. Mutations and common polymorphisms in ADAMTS13 gene responsible for von Willebrand factor-cleaving protease activity. Proc. Natl Acad. Sci. USA 99(18), 11902-11907 (2002). (Pubitemid 34994496)
40. Akiyama M, Kokame K, Miyata T. ADAMTS13 P475S polymorphism causes a lowered enzymatic activity and urea lability in vitro. J. Thromb. Haemost. 6(10), 1830-1832 (2008).
41. Jang MJ, Kim NK, Chong SY et al. Frequency of Pro475Ser polymorphism of ADAMTS13 gene and its association with ADAMTS-13 activity in the Korean population. Yonsei. Med. J. 49(3), 405-408 (2008).
42. Ruan C, Dai L, Su J, Wang Z. The frequency of P475S polymorphism in von Willebrand factor-cleaving protease in the Chinese population and its relevance to arterial thrombotic disorders. Thromb. Haemost. 91(6), 1257-1258 (2004). (Pubitemid 38821289)
43. Bongers TN, de Maat MP, Dippel DW, Uitterlinden AG, Leebeek FW. Absence of Pro475Ser polymorphism in ADAMTS-13 in Caucasians. J. Thromb. Haemost. 3(4), 805 (2005). (Pubitemid 41647900)
44. de Mast Q, Groot E, Asih PB et al. ADAMTS13 deficiency with elevated levels of ultra-large and active von Willebrand factor in P. falciparum and P. vivax malaria. Am. J. Trop. Med. Hyg. 80(3), 492-498 (2009).
45. Schettert IT, Pereira AC, Lopes NH, Hueb WA, Krieger JE. Association between ADAMTS13 polymorphisms and risk of cardiovascular events in chronic coronary disease. Thromb. Res. 125(1), 61-66 (2009).
46. Veyradier A, Lavergne JM, Ribba AS et al. Ten candidate ADAMTS13 mutations in six French families with congenital thrombotic thrombocytopenic purpura (Upshaw-Schulman syndrome). J. Thromb. Haemost. 2(3), 424-429 (2004). (Pubitemid 40185653)
47. Tao Z, Anthony K, Peng Y et al. Novel ADAMTS-13 mutations in an adult with delayed onset thrombotic thrombocytopenic purpura. J. Thromb. Haemost. 4(9), 1931-1935 (2006). (Pubitemid 44226771)
48. Plaimauer B, Fuhrmann J, Mohr G et al. Modulation of ADAMTS13 secretion and specific activity by a combination of common amino acid polymorphisms and a missense mutation. Blood 107(1), 118-125 (2006). (Pubitemid 43053532)
49. Antoine G, Zimmermann K, Plaimauer B et al. ADAMTS13 gene defects in two brothers with constitutional thrombotic thrombocytopenic purpura and normalization of von Willebrand factor-cleaving protease activity by recombinant human ADAMTS13. Br. J. Haematol. 120(5), 821-824 (2003). (Pubitemid 36315105)
50. Feys HB, Pareyn I, Vancraenenbroeck R et al. Mutation of the H-bond acceptor S119 in the ADAMTS13 metalloprotease domain reduces secretion and substrate turnover in a patient with congenital thrombotic thrombocytopenic purpura. Blood 114(21), 4749-4752 (2009).
51. Donadelli R, Banterla F, Galbusera M et al. In vitro and in vivo consequences of mutations in the von Willebrand factor cleaving protease ADAMTS13 in thrombotic thrombocytopenic purpura. Thromb. Haemost. 96(4), 454-464 (2006). (Pubitemid 44560679)
52. Bestetti G, Stellari A, Lattuada A et al. ADAMTS 13 genotype and VWF protease activity in an Italian family with TTP. Thromb. Haemost. 90(5), 955-956 (2003). (Pubitemid 37427867)
53. Noris M, Bucchioni S, Galbusera M et al. Complement factor H mutation in familial thrombotic thrombocytopenic purpura with ADAMTS13 deficiency and renal involvement. J. Am. Soc. Nephrol. 16(5), 1177-1183 (2005). (Pubitemid 41716501)
54. Peyvandi F, Lavoretano S, Palla R et al. Mechanisms of the interaction between two ADAMTS13 gene mutations leading to severe deficiency of enzymatic activity. Hum. Mutat. 27(4), 330-336 (2006).
55. Kaikita K, Soejima K, Matsukawa M, Nakagaki T, Ogawa H. Reduced von Willebrand factor-cleaving protease (ADAMTS13) activity in acute myocardial infarction. J. Thromb. Haemost. 4(11), 2490-2493 (2006). (Pubitemid 44575447)
56. Chion CK, Doggen CJ, Crawley JT, Lane DA, Rosendaal FR. ADAMTS13 and von Willebrand factor and the risk of myocardial infarction in men. Blood 109(5), 1998-2000 (2007). (Pubitemid 46348198)
57. Bittar LF, De Paula EV, Mello TB et al. Polymorphisms and mutations in VWF and ADAMTS13 Genes and their correlation with plasma levels of FVIII and VWF in patients with deep venous thrombosis. Clin. Appl. Thromb. Hemost. DOI: 10.1177/1076029610375815 (2010) (Epub ahead of print).
58. Bowen DJ, Collins PW. An amino acid polymorphism in von Willebrand factor correlates with increased susceptibility to proteolysis by ADAMTS13. Blood 103(3), 941-947 (2004). (Pubitemid 38129554)
59. Kimchi-Sarfaty C, Oh JM, Kim IW et al. A "silent" polymorphism in the MDR1 gene changes substrate specificity. Science 315(5811), 525-528 (2007). (Pubitemid 46175758)
60. Hunt R, Sauna ZE, Ambudkar SV, Gottesman MM, Kimchi-Sarfaty C. Silent (synonymous) SNPs: should we care about them? Methods Mol. Biol. 578, 23-39 (2009).
61. Zhang G, Hubalewska M, Ignatova Z. Transient ribosomal attenuation coordinates protein synthesis and co-translational folding. Nat. Struct. Mol. Biol. 16(3), 274-280 (2009).
62. Ma ESK, Li YH, Kwok JSY et al. ADAMTS13 mutational analysis in Chinese Patients with chronic relapsing thrombotic thrombocytopenic purpura. HK J. Paediatri. 11, 22-27 (2006). (Pubitemid 43139523)
63. Kokame K, Aoyama Y, Matsumoto M, Fujimura Y, Miyata T. Inherited and de novo mutations of ADAMTS13 in a patient with Upshaw-Schulman syndrome. J. Thromb. Haemost. 6(1), 213-215 (2008).
64. Shibagaki Y, Matsumoto M, Kokame K et al. Novel compound heterozygote mutations (H234Q/R1206X) of the ADAMTS13 gene in an adult patient with Upshaw-Schulman syndrome showing predominant episodes of repeated acute renal failure. Nephrol. Dial. Transplant. 21(5), 1289-1292 (2006).
65. Fujimura Y, Matsumoto M, Kokame K et al. Pregnancy-induced thrombocytopenia and TTP, and the risk of fetal death, in Upshaw-Schulman syndrome: a series of 15 pregnancies in 9 genotyped patients. Br. J. Haematol. 144(5), 742-754 (2009).
66. Jin SY, Skipwith CG, Zheng XL. Amino acid residues Arg(659), Arg(660), and Tyr(661) in the spacer domain of ADAMTS13 are critical for cleavage of von Willebrand factor. Blood 115(11), 2300-2310 (2010).
67. Pos W, Crawley JT, Fijnheer R, Voorberg J, Lane DA, Luken BM. An autoantibody epitope comprising residues R660, Y661, and Y665 in the ADAMTS13 spacer domain identifies a binding site for the A2 domain of VWF. Blood 115(8), 1640-1649 (2010).
68. Akiyama M, Takeda S, Kokame K, Takagi J, Miyata T. Crystal structures of the noncatalytic domains of ADAMTS13 reveal multiple discontinuous exosites for von Willebrand factor. Proc. Natl Acad. Sci. USA 106(46), 19274-19279 (2009).
69. Meyer SC, Sulzer I, Lammle B, Kremer Hovinga JA. Hyperbilirubinemia interferes with ADAMTS-13 activity measurement by FRETS-VWF73 assay: diagnostic relevance in patients suffering from acute thrombotic microangiopathies. J. Thromb. Haemost. 5(4), 866-867 (2007). (Pubitemid 46563591)
70. Schneppenheim R, Kremer Hovinga JA, Becker T et al. A common origin of the 4143insA ADAMTS13 mutation. Thromb. Haemost. 96(1), 3-6 (2006). (Pubitemid 44160863)
71. Bruno K, Volkel D, Plaimauer B et al. Cloning, expression and functional characterization of the full-length murine ADAMTS13. J. Thromb. Haemost. 3(5), 1064-1073 (2005). (Pubitemid 41632840)
72. Banno F, Kokame K, Okuda T et al. Complete deficiency in ADAMTS13 is prothrombotic, but it alone is not sufficient to cause thrombotic thrombocytopenic purpura. Blood 107(8), 3161-3166 (2006).
73. Motto DG, Chauhan AK, Zhu G et al. Shigatoxin triggers thrombotic thrombocytopenic purpura in genetically susceptible ADAMTS13-deficient mice. J. Clin. Invest. 115(10), 2752-2761 (2005). (Pubitemid 41434402)
74. Moake JL. Thrombotic microangiopathies. N. Engl. J. Med. 347(8), 589-600 (2002).
75. Zhou W, Dong L, Ginsburg D, Bouhassira EE, Tsai HM. Enzymatically active ADAMTS13 variants are not inhibited by anti-ADAMTS13 autoantibodies: a novel therapeutic strategy? J. Biol. Chem. 280(48), 39934-39941 (2005). (Pubitemid 41779128)
76. Jin SY, Xiao J, Wright JF, Zheng XL. Correction of ADAMTS13 Deficiency by AAV-Mediated Gene Transfer of a C-Terminal Truncated ADAMTS13 Variant In a Murine Model. Presented at: 52nd American Society of Hematology Annual Meeting and Exposition. Orange County Convention Center, Orlando, FL, USA, 4-7 December (2010).