The factor XII -4C>T variant and risk of common thrombotic disorders: A HuGE review and meta-analysis of evidence from observational studies

American Journal of Epidemiology

Volumn 173, Issue 2, 2011, Pages 136-144

  Johnson, Candice Y ^a   Tuite, Ashleigh ^b   Morange, Pierre E ^c,d   Tregouet, David A ^c,e   Gagnon, France ^b  

^a EMORY UNIVERSITY   (United States)

^b UNIVERSITY OF TORONTO   (Canada)

^c INSERM   (France)

^d AIX MARSEILLE UNIVERSITY   (France)

^e SORBONNE UNIVERSITÉ   (France)

Author keywords

F12; factor XII; meta analysis; myocardial infarction; polymorphism, genetic; pulmonary embolism; venous thromboembolism; venous thrombosis

Indexed keywords

BLOOD CLOTTING FACTOR 12;

ETIOLOGY; GENE; LITERATURE REVIEW; META-ANALYSIS; OBSERVATIONAL METHOD; PLASMA; POLYMORPHISM; RISK FACTOR;

EPIDEMIOLOGICAL DATA; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; HEART INFARCTION; HUMAN; META ANALYSIS (TOPIC); NONHUMAN; OBSERVATIONAL STUDY; OUTCOME ASSESSMENT; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM; VENOUS THROMBOEMBOLISM;

FACTOR XII; GENOME, HUMAN; HUMANS; MYOCARDIAL INFARCTION; POLYMORPHISM, SINGLE NUCLEOTIDE; VENOUS THROMBOEMBOLISM;

EID: 78650633950     PISSN: 00029262     EISSN: 14766256     Source Type: Journal    
DOI: 10.1093/aje/kwq349     Document Type: Review

References (70)

1. Gebbink MF, Bouma B, Maas C, et al. Physiological responses to protein aggregates: fibrinolysis, coagulation and inflammation (new roles for old factors). FEBS Lett. 2009;583(16): 2691-2699.
2. Renné T, Gailani D. Role of factor XII in hemostasis and thrombosis: clinical implications. Expert Rev Cardiovasc Ther. 2007;5(4):733-741.
3. Greer JP, Foerster J, Lukens JN, et al. Wintrobe' s Clinical Hematology. 11th ed. Philadelphia, PA: Lippincott Williams & Wilkins; 2003.
4. Schousboe I. Pharmacological regulation of factor XII activation may be a new target to control pathological coagulation. Biochem Pharmacol. 2008;75(5):1007-1013.
5. Royle NJ, Nigli M, Cool D, et al. Structural gene encoding human factor XII is located at 5q33-qter. Somat Cell Mol Genet. 1988;14(2):217-221.
6. Ratnoff OD, Colopy JE. A familial hemorrhagic trait associated with a deficiency of a clot-promoting fraction of plasma. J Clin Invest. 1955;34(4):602-613.
7. Renné T, Pozgajová M, Grüner S, et al. Defective thrombus formation in mice lacking coagulation factor XII. J Exp Med. 2005;202(2):271-281.
8. Dewald G, Bork K. Missense mutations in the coagulation factor XII (Hageman factor) gene in hereditary angioedema with normal C1 inhibitor. Biochem Biophys Res Commun. 2006;343(4):1286-1289.
9. Hovinga JK, Schaller J, Stricker H, et al. Coagulation factor XII Locarno: the functional defect is caused by the amino acid substitution Arg 353/Pro leading to loss of a kallikrein cleavage site. Blood. 1994;84(4):1173-1181.
10. Kanaji T, Okamura T, Osaki K, et al. A common genetic polymorphism (46 C to T substitution) in the 5#-untranslated region of the coagulation factor XII gene is associated with low translation efficiency and decrease in plasma factor XII level. Blood. 1998;91(6):2010-2014.
11. Kondo S, Tokunaga F, Kawano S, et al. Factor XII Tenri, a novel cross-reacting material negative factor XII deficiency, occurs through a proteasome-mediated degradation. Blood. 1999;93(12):4300-4308.
12. Miyata T, Kawabata S, Iwanaga S, et al. Coagulation factor XII (Hageman factor) Washington D.C.: inactive factor XIIa results from Cys-571/Ser substitution. Proc Natl Acad Sci USA. 1989;86(21):8319-8322.
13. Schloesser M, Hofferbert S, Bartz U, et al. The novel acceptor splice site mutation 11396(G/A) in the factor XII gene causes a truncated transcript in cross-reacting material negative patients. Hum Mol Genet. 1995;4(7):1235-1237.
14. Calafell F, Almasy L, Sabater-Lleal M, et al. Sequence variation and genetic evolution at the human F12 locus: mapping quantitative trait nucleotides that influence FXII plasma levels. Hum Mol Genet. 2010;19(3):517-525.
15. Roldán V, Corral J, Marín F, et al. Synergistic association between hypercholesterolemia and the C46T factor XII polymorphism for developing premature myocardial infarction. Thromb Haemost. 2005;94(6):1294- 1299.
16. Oguchi S, Ito D, Murata M, et al. Genotype distribution of the 46C/T polymorphism of coagulation factor XII in the Japanese population: absence of its association with ischemic cerebro-vascular disease. Thromb Haemost. 2000;83(1):178-179.
17. Reitsma PH, Rosendaal FR. Past and future of genetic research in thrombosis. J Thromb Haemost. 2007;5(suppl 1):S264-S269.
18. Dalen JE. Pulmonary embolism: what have we learned since Virchow?: treatment and prevention. Chest. 2002;122(5): 1801-1817.
19. Ageno W, Dentali F. Venous thromboembolism and arterial thromboembolism. Many similarities, far beyond thrombosis per se. Thromb Haemost. 2008;100(2):181-183.
20. Mackman N. Triggers, targets and treatments for thrombosis. Nature. 2008;451(7181):914-918.
21. Prandoni P. Venous thromboembolism and atherosclerosis: is there a link? J Thromb Haemost. 2007;5(suppl 1):S270-S275.
22. Wells PS, Anderson JL, Scarvelis DK, et al. Factor XIII Val34Leu variant is protective against venous thromboembo-lism: a HuGE review and meta-analysis. Am J Epidemiol. 2006;164(2):101-109.
23. Shafey M, Anderson JL, Scarvelis D, et al. Factor XIII Val34Leu variant and the risk of myocardial infarction: a meta-analysis. Thromb Haemost. 2007;97(4):635-641.
24. Green D. Risk of future arterial cardiovascular events in patients with idiopathic venous thromboembolism. Hematology Am Soc Hematol Educ Program. 2009;259-266.
25. Herczenik E, Gebbink MF. Molecular and cellular aspects of protein misfolding and disease. FASEB J. 2008;22(7): 2115-2133.
26. Gailani D, Renné T. The intrinsic pathway of coagulation: a target for treating thromboembolic disease? J Thromb Hae-most. 2007;5(6):1106-1112.
27. Doggen CJ, Rosendaal FR, Meijers JC. Levels of intrinsic coagulation factors and the risk of myocardial infarction among men: opposite and synergistic effects of factors XI and XII. Blood. 2006;108(13):4045-4051.
28. Gallimore MJ, Harris SL, Jones DW, et al. Plasma levels of factor XII, prekallikrein and high molecular weight kininogen in normal blood donors and patients having suffered venous thrombosis. Thromb Res. 2004;114(2):91-96.
29. Girolami A, Morello M, Girolami B, et al. Myocardial infarction and arterial thrombosis in severe (homozygous) FXII deficiency: no apparent causative relation. Clin Appl Thromb Hemost. 2005;11(1):49-53.
30. Girolami A, Randi ML, Gavasso S, et al. The occasional venous thromboses seen in patients with severe (homozygous) FXII deficiency are probably due to associated risk factors: a study of prevalence in 21 patients and review of the literature. J Thromb Thrombolysis. 2004;17(2):139-143.
31. Kanaji T. Lower factor XII activity is a risk marker rather than a risk factor for cardiovascular disease: a rebuttal [letter]. J Thromb Haemost. 2008;6(6):1053-1054.
32. Santamaría A, Mart́?nez-Rubio A, Mateo J, et al. Homozy-gosity of the Tallele of the 46 C/T polymorphism in the F12 gene is a risk factor for acute coronary artery disease in the Spanish population [letter]. Haematologica 2004,89(7): 878-879.
33. Soria JM, Almasy L, Souto JC, et al. A quantitative-trait locus in the human factor XII gene influences both plasma factor XII levels and susceptibility to thrombotic disease. Am J Hum Genet. 2002;70(3):567-574.
34. Lin BK, Clyne M, Walsh M, et al. Tracking the epidemiology of human genes in the literature: the HuGE published literature database. Am J Epidemiol. 2006;164(1):1-4.
35. Yu W, Gwinn M, Clyne M, et al. A navigator for human genome epidemiology. Nat Genet. 2008;40(2):124-125.
36. Egger M, Davey Smith G, Schneider M, et al. Bias in meta-analysis detected by a simple, graphical test. BMJ. 1997; 315(7109):629-634.
37. Franchini M, Mannucci PM. Venous and arterial thrombosis: different sides of the same coin? Eur J Intern Med. 2008;19(7): 476-481.
38. Balding DJ. A tutorial on statistical methods for population association studies. Nat Rev Genet. 2006;7(10):781-791.
39. Ioannidis JP, Boffetta P, Little J, et al. Assessment of cumulative evidence on genetic associations: interim guidelines. Int J Epidemiol. 2008;37(1):120-132.
40. Little J, Higgins JP, eds. The HuGENet HuGE Review Handbook, Version 1.0. Ottawa, Ontario, Canada: HuGENet Canada Coordinating Centre; 2006. (http://www.medicine.uottawa.ca/ public-health-genomics/web/assets/documents/ HuGE-Review- Handbook-V1-0.pdf). (Accessed March 8, 2010).
41. Zhang GR, Yu YH, Chen G, et al. Analysis of C46T gene polymorphism of FXII in patients with venous thrombosis patients [in Chinese]. J Jilin Univ Med Ed. 2007;33(3): 555-558.
42. Bezemer ID, Bare LA, Doggen CJ, et al. Gene variants associated with deep vein thrombosis. JAMA. 2008;299(11): 1306-1314.
43. Roldán V, González-Conejero R, Marín F, et al. Five pro-thrombotic polymorphisms and the prevalence of premature myocardial infarction. Haematologica. 2005;90(3):421-423.
44. Nishihama K, Yamada Y, Matsuo H, et al. Association of gene polymorphisms with myocardial infarction in individuals with or without conventional coronary risk factors. Int J Mol Med. 2007;19(1):129-141.
45. Reuner KH, Jenetzky E, Aleu A, et al. Factor XII C46T gene polymorphism and the risk of cerebral venous thrombosis. Neurology. 2008;70(2):129-132.
46. Bach J, Endler G, Winkelmann BR, et al. Coagulation factor XII (FXII) activity, activated FXII, distribution of FXII C46T gene polymorphism and coronary risk. J Thromb Haemost. 2008;6(2):291-296.
47. Bedencic M, Bozic M, Peternel P, et al. Major and potential prothrombotic genotypes in patients with venous thrombosis and in healthy subjects from Slovenia. Pathophysiol Haemost Thromb. 2008;36(2):58-63.
48. Bertina RM, Poort SR, Vos HL, et al. The 46C/T polymorphism in the factor XII gene (F12) and the risk of venous thrombosis. J Thromb Haemost. 2005;3(3):597-599.
49. Caamaño J, Jaramillo PC, Lanas C, et al. Factor XII 46C/T gene polymorphism in Chilean subjects with coronary artery disease and controls. Med Princ Pract. 2009;18(2): 137-142.
50. Cochery-Nouvellon E, Mercier E, Lissalde-Lavigne G, et al. Homozygosity for the C46T polymorphism of the F12 gene is a risk factor for venous thrombosis during the first pregnancy. J Thromb Haemost. 2007;5(4):700-707.
51. Endler G, Mannhalter C, Sunder-Plassmann H, et al. Homo-zygosity for the C/T polymorphism at nucleotide 46 in the 5# untranslated region of the factor XII gene protects from development of acute coronary syndrome. Br J Haematol. 2001;115(4):1007-1009.
52. Franco RF, Reitsma PH, Lourenco D, et al. Factor XIII Val34Leu is a genetic factor involved in the etiology of venous thrombosis. Thromb Haemost. 1999;81(5):676-679.
53. Grünbacher G, Marx-Neuhold E, Pilger E, et al. The functional -4C>T polymorphism of the coagulation factor XII gene is not associated with deep venous thrombosis. J Thromb Haemost. 2005;3(12):2815-2817.
54. Kanaji T, Watanabe K, Hattori S, et al. Factor XII gene (F 12) -4C/C polymorphism in combination with low protein S activity is associated with deep vein thrombosis. Thromb Haemost. 2006;96(6):854-855.
55. Kohler HP, Futers TS, Grant PJ. FXII (46C->T) polymorphism and in vivo generation of FXII activity-gene frequencies and relationship in patients with coronary artery disease. Thromb Haemost. 1999;81(5):745-747.
56. Silander K, Alanne M, Kristiansson K, et al. Gender differences in genetic risk profiles for cardiovascular disease. PLoS One. 2008;3(10):e3615. (doi: 10.1371/journal.pone. 0003615).
57. Tirado I, Soria JM, Mateo J, et al. Association after linkage analysis indicates that homozygosity for the 46C->T polymorphism in the F12 gene is a genetic risk factor for venous thrombosis. Thromb Haemost. 2004;91(5):899-904.
58. Zito F, Drummond F, Bujac SR, et al. Epidemiological and genetic associations of activated factor XII concentration with factor VII activity, fibrinopeptide A concentration, and risk of coronary heart disease in men. Circulation. 2000;102(17): 2058-2062.
59. Zito F, Lowe GD, Rumley A, et al. Association of the factor XII 46C>T polymorphism with risk of coronary heart disease (CHD) in the WOSCOPS study. Atherosclerosis. 2002;165(1): 153-158.
60. Erdmann J, Grosshennig A, Braund PS, et al. New susceptibility locus for coronary artery disease on chromosome 3q22.3. Nat Genet. 2009;41(3):280-282.
61. Helgadottir A, Thorleifsson G, Manolescu A, et al. A common variant on chromosome 9p21 affects the risk of myocardial infarction. Science. 2007;316(5830):1491-1493. (Pubitemid 46906618)
62. Kathiresan S, Voight BF, Purcell S, et al. Genome-wide association of early onset myocardial infarction with single nu-cleotide polymorphisms and copy number variants. Nat Genet. 2009;41(3):334-341.
63. Larson MG, Atwood LD, Benjamin EJ, et al. Framingham Heart Study 100K project: genome-wide associations for cardiovascular disease outcomes. BMC Med Genet. 2007; 8(suppl 1):S5. (doi: 10.1186/1471-2350-8-S1-S5). (Pubitemid 351958755)
64. Samani NJ, Erdmann J, Hall AS, et al. Genomewide association analysis of coronary artery disease. N Engl J Med. 2007; 357(5):443-453. (Pubitemid 47204873)
65. Trégouët DA, Heath S, Saut N, et al. Common susceptibility alleles are unlikely to contribute as strongly as the FVand ABO loci to VTE risk: results from a GWAS approach. Blood. 2009;113(21):5298-5303.
66. Purcell S, Cherny SS, Sham PC. Genetic Power Calculator: design of linkage and association genetic mapping studies of complex traits. Bioinformatics. 2003;19(1):149-150.
67. Santamaría A, Mateo J, Tirado I, et al. Homozygosity of the T allele of the 46 C/T polymorphism in the F12 gene is a risk factor for ischemic stroke in the Spanish population. Stroke. 2004;35(8):1795-1799. (Pubitemid 38971853)
68. Winter M, Gallimore M. Should factor XII assays be included in thrombophilia screening? [letter]. Lancet. 1995;346(8966): 52.
69. Koster T, Rosendaal FR, Briët E, et al. John Hageman's factor and deep-vein thrombosis: Leiden thrombophilia study. Br J Haematol. 1994;87(2):422-424.
70. Zeerleder S, Schloesser M, Redondo M, et al. Reevaluation of the incidence of thromboembolic complications in congenital factor XII deficiency-a study on 73 subjects from 14 Swiss families. Thromb Haemost. 1999;82(4):1240-1246.