The role of factor XIIIVal34Leu in cardiovascular disease

QJM: An International Journal of Medicine

Volumn 92, Issue 2, 1999, Pages 67-72

  Kohler, H P ^a   Grant, P J ^a,b  

^a UNIVERSITY OF LEEDS   (United Kingdom)

^b LEEDS GENERAL INFIRMARY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; BLOOD CLOTTING FACTOR 13; CALCIUM; FIBRIN; LEUCINE; THROMBIN;

ALLELE; AMINO ACID SUBSTITUTION; ATHEROSCLEROSIS; CARDIOVASCULAR DISEASE; CEREBROVASCULAR DISEASE; CHROMOSOME 6; CROSS LINKING; DNA POLYMORPHISM; ETHNIC GROUP; HEART INFARCTION; HUMAN; ISCHEMIC HEART DISEASE; POINT MUTATION; PRIORITY JOURNAL; REVIEW; VEIN THROMBOSIS;

EID: 0032978494     PISSN: 00335622     EISSN: None     Source Type: Journal    
DOI: 10.1093/qjmed/92.2.67     Document Type: Review

References (44)

1. Lorand L. Fibrin clots. Some properties of the 'serum factor'. Nature 1950; 166:694-6.
2. Greenberg CS, Birckhichler PJ, Rice RH. Transglutaminases: multifunctional crosslinking enzymes that stabilize tissues. FASEB J 1991; 53071-7.
3. Barkan G, Gaspar A. Zur Frage der Reversibilität der Fibringerinnung. Biochem Z 1923; 139:291-301.
4. Mikkola H, Syrjala M, Rasi V, Vahtera E, Hamalainen E, Peltonin L, Palotie A. Deficiency in the A-subunit of coagulation factor XIII: two novel point mutations demonstrate different effects on transcript levels. Blood 1994; 84:517-25.
5. Anwar R, Stewart AD, Miloszewski KJA, Losowsky MS, Markham AF. Molecular basis of inherited factor XIII deficiency: identification of multiple mutations provides insights into protein function. Br J Haematol 1995; 91:728-35.
6. Board PG, Losowsky MS, Miloszewski KJA. Factor XIII: inherited and acquired deficiency. Blood Rev 1993; 7:229-42.
7. Kloczko J, Wojtukiewicz M, Bielawiec M, Zuch A. Alterations of haemostasis parameters with special reference to fibrin stabilization, factor XIII and fibronectin in patients with obliterative atherosclerosis. Thromb Res 1988; 51:575-81.
8. Kloczko J, Wojtukiewicz M, Bielawiec M, Zarzycka B, Kinalska I. Plasma Factor XIII and some other haemostasis parameters in patients with diabetic angiopathy. Acta Haemat 1986; 76:81-5.
9. Francis CW, Connaghan DG, Scott WL, Marder VJ. Increased plasma concentration of cross-linked fibrin polymers in acute myocardial infarction. Circulation 1987; 6:1170-7.
10. Kohler HP, Stickland MH, Ossei-Gerning N, Carter A, Mikkola H, Grant PJ. Association of a common polymorphism in the factor XIII gene with myocardial infarction. Thromb Haemos 1998; 79:8-13.
11. Catto AJ, Kohler HP, Bannan S, Stickland M, Carter A, Grant PJ. Factor XIIIVal34Leu: a novel association with primary intracerebral haemorrhage. Stroke 1998, 29:813-16.
12. Schwarz ML, Pizzo SV, Hill RL, McKee PA. Human factor XIII from plasma and platelets. Molecular weights, subunit structures, proteolytic activation, and crosslinking of fibrinogen and fibrin. J Biol Chem 1973; 248:1359-407.
13. Yorifuji H, Anderson K, Lynch Gw, Van de Waler L, McDonagh J. B protein of factor XIII: differentiation between free B and uncomplexed B. Blood 1988; 72:1645-50.
14. Kroll J. The subunit composition of factor XIII proteins in normal and factor XIII deficient plasma and serum analyzed by line immunoelectrophoresis. Clin Chim Acta 1989; 179:279-84.
15. Siebenlist KR, Meh DA, Mosesson MW. Plasma factor XIII binds to fibrinogen molecules containing γ chains. Biochemistry 1996; 35:10448-53.
16. Takagi T, Doolittle RF. Amino acid sequence studies on factor XIII and the peptide released during its activation by thrombin. Biochemistry 1974; 13:750-6.
17. Ichinose A. The physiology and biochemistry of factor XIII. In: Bloom AL, Forbes CD, Thomas DP, Tuddenham EDG, eds. Haemostasis and Thrombosis, 3rd edition. Edinburgh, Churchill Livingstone, 1994:531-46.
18. 2+ -related regulatory function of fibrinogen. Proc Natl Acad Sci USA 1978; 75:4234-7.
19. Credo RB, Curtis CG, Lorand L. a-chain domain of fibrinogen controls generation of fibrinoligase (coagulation factor XIIIa). Calcium ion regulatory aspects. Biochemistry 1981; 20:3770-8.
20. Janus TJ, Sidney DL, Lorand L, Shafer JA. Promotion of thrombin-catalyzed activation of factor XIII by fibrinogen. Biochemistry 1983; 22:6269-72.
21. Naski MC, Lorand L, Shafer JA. Characterisation of the kinetic pathway for fibrin promotion of α-thrombin-catalyzed activation of plasma factor XIII. Biochemistry 1991; 30:934-41.
22. Lorand L, Losowsky MS, Miloszewski KJM. Human factor XIII fibrin stabilising factor. Progr Thromb Haemost 1980; 5:245-90.
23. Francis RT, McDonagh J, Mann XG. Factor V is a substrate for the transamidase factor XIIIa. J Biol Chem 1986; 261:9787-92.
24. 2-plasmin inhibitor. J Biol Chem 1986; 261:15591-5.
25. Mosher DF, Schad PE, Kleinman HK. Cross-linking of fibronectin to collagen by blood coagulation factor XIIIa. J Clin Invest 1979; 64:781-7.
26. Aeschlimann D, Mosher DF, Paulsson M. Tissue transglutaminase and factor XIII in cartilage and bone remodeling. Semin Thromb Haemost 1996; 22:437-43.
27. Ichinose A, Davie E. Characterization of the gene for the a subunit of human factor XIII (plasma transglutaminase), a blood coagulation factor. Proc Natl Acad Sci USA 1986; 85:5829-33.
28. Ichinose A. Hendrickson LE, Fujikawa K, Davie EW. Amino acid sequence of the a subunit of human factor XIII. Biochem 1986; 25:6900-6.
29. Vreken P, Niessen RWLM, Peters M, Schaap MCL, Zuithoff-Rijntjes JGM, Sturk A. A point mutation in an invariant splice acceptor site results in a decrease mRNA level in a patient with severe coagulation factor XIII subunit A deficiency. Thromb Haemost 1995; 74:584-7.
30. Suzuki K, Henke J, Iwata M, Henke L, Tsuji H, Fukunaga GI, Szekelyi M, Ito S. Novel polymorphisms and haplotypes in the human coagulation Factor XIII A-subunit gene. Hum Genet 1996; 98:393-5.
31. Nelson RG, Sievers ML, Knowler WC, Swinburn BH, Pettitt DJ, Saad MF, Liebow IM, Howard BV, Bennet PH. Low incidence of fatal coronary heart disease in Pima Indians despite high prevalence of non-insulin-dependent diabetes. Circulation 1990; 81:987-95.
32. Dhawan J, Bray CL, Wartburton R, Ghambhir DS, Morris J. Insulin resistance, high prevalence of diabetes, and cardiovascular risk in immigrant Asians. Genetic or environmental effect? Br Heart J 1994; 72:413-21.
33. McCormack LJ, Kain K, Catto AJ, Kohler MH, Stickland MH, Grant PJ. Prevalence of FXIII V34L in populations with different cardiovascular risk. Thromb Haemost 1998; [letter] 80:523-4.
34. Bertina RM, Koeleman BPC, Koster T, Rosendaal FR, Dirven RJ, de Ronde H, van der Velden PA, Reitsma PH. Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature 1994; 369:64-7.
35. 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;88:3698-703.
36. Catto AJ, Kohler HP, Coore MW, Mansfield MH, Stickland MH, Grant PJ. Association of a common polymorphism in the factor XIII gene with venous thrombosis. Blood 1999; in press.
37. Song YC, Sheng DQ, Taubenfeld SM, Matsueda GR. A microtiter assay for factor XIII using fibrinogen and biotincadaverine as substrate. Anal Biochem 1994; 223:88-92.
38. Kohler HP, Ariens RAS, Whitaker P, Grant PJ. A common coding polymorphism in the FXIII A-subunit gene (FXIIIVal34Leu) affects cross-linking activity. Thromb Haemost 1998; 80:704.
39. Fatah K, Silveira A, Tornvall P, Karpe F, Blombäck, Hamsten A. Proneness to formation of tight and rigid fibrin Gel structures in men with myocardial infarction at young age. Thromb Haemost 1996; 76:535-40.
40. Siebenlist KR, Mosesson MW. Progressive cross-linking of fibrin γ-chains increases resistance to fibrinolysis. J Biol Chem 1994; 269:28414-19.
41. Van Giezen IJ, Minkema J, Bouma BN, Jansen JWCM. Cross-linking of alpha 2-antiplasmin to fibrin is a key factor in regulating blood clot lysis: species differences. Blood Coag Fibrinol 1993; 4:869-75.
42. Bardos H, Molnar P, Csecsei G, Adany R. Fibrin deposition in primary and metastatic human brain tumours. Blood Coag Fibrinol 1996; 7:536-48.
43. Hudson M, Wakefield AJ, Hutton RA, Sankey EA, Dhillon AP, More L, Sim R, Pounder RE. Factor XIIIA subunit and Crohn's disease. Gut 1993; 34:75-9.
44. Wozniak G, Dapper F, Alemany J. Factor XIII in ulcerative leg disease: background and preliminary clinical results. Semin Thromb Hemost 1996; 22:445-50.