Factor VII gene polymorphisms contribute about one third of the factor VII level variation in plasma

Arteriosclerosis, Thrombosis, and Vascular Biology

Volumn 16, Issue 1, 1996, Pages 72-76

  Bernardi, Francesco ^a   Marchetti, Giovanna ^a   Pinotti, Mirko ^a   Arcieri, Paolo ^a,b   Baroncini, Claudia ^c   Papacchini, Maddalena ^a,e   Zepponi, Enrico ^d   Ursicino, Nadia ^d   Chiarotti, Flavia ^e   Mariani, Guglielmo ^a,b  

^a UNIVERSITY OF FERRARA   (Italy)

^b SAPIENZA UNIVERSITY OF ROME   (Italy)

^c UNIVERSITY OF BOLOGNA   (Italy)

^d Ospedale Provinciale di Rieti   (Italy)

^e ISTITUTO SUPERIORE DI SANITÀ   (Italy)

Author keywords

coagulation factor VII; factor VII activity; factor VII antigen; factor VII gene; factor VII polymorphisms

Indexed keywords

BLOOD CLOTTING FACTOR 7;

ADOLESCENT; ADULT; AGED; ALLELE; ANTIGEN ANTIBODY COMPLEX; ARTICLE; BLOOD CLOTTING; CHILD; DNA POLYMORPHISM; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HEMOSTASIS; HUMAN; HUMAN EXPERIMENT; IMMUNOASSAY; INTRON; MALE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

EID: 9044243754     PISSN: 10795642     EISSN: None     Source Type: Journal    
DOI: 10.1161/atvb.16v01.0072     Document Type: Article

References (24)

1. Meade TW, Mellows S, Brozovic M, Miller GJ, Chakrabarti RR, North WRS, Haines AP, Stirling Y, Imeson JD, Thompson SG. Haemostatic function and ischaemic heart disease: principal results of the Northwick Park Heart Study. Lancet. 1986;2:533-537.
2. Heinrich J, Balleisen L, Schulte H, Assmann G, van de Loo J. Fibrinogen and factor VII in the prediction of coronary risk: results from the PROCAM study in healthy men. Arterioscler Thromb. 1994;14:54-59.
3. Meade TW, Stirling Y, Thompson SG, Vickers MV, Woolf L, Ajdukiewicz AB, Stewart G, Davidson J, Walker ID, Douglas AS, Rochardson IM, Weir RD, Aromma A, Impivaara O, Maatela J, Haldovec J. An international and interregional comparison of hacmostatic variables in the study of ischaemic heart disease. Int J Epidemiol. 1986;15:331-336.
4. Meade TW. Fibrinogen and other clotting factors in cardiovascular disease. In: Francis RB, ed. Atherosclerotic Cardiovascular Disease, Hemostasis and Endothelial Function. New York, NY: Marcel Dekker, Inc; 1992:1-33.
5. Lane A, Cruickshank JK, Mitchell J, Henderson A, Humphries S, Green F. Genetic and environmental determinants of factor VII coagulant activity in ethnic groups at different risk of coronary heart disease. Atherosclerosis. 1992;94:43-50.
6. Green F, Kelleher C, Wilkes H, Temple A, Meade TW, Humphries S. A common genetic polymorphism associated with lower coagulation factor VII levels in healthy individuals. Arterioscler Thromb. 1991;11:540-546.
7. Humphries SE, Lane A, Green FR, Cooper J, Miller GJ. Factor VII coagulant activity and antigen levels in healthy men are determined by interaction between factor VII genotype and plasma triglyceride concentration. Arterioscler Thromb. 1994;14:193-198.
8. Meilahn E, Ferrel R, Kiss J, Temple A, Green F, Humphries S, Kuller L. Genetic determination of coagulation factor VIIc levels among healthy middle-aged women. Thromb Haemost. 1995;73:623-625.
9. Miller GJ, Martin JC, Webster J, Wilkes H, Miller NE, Wilkinson WH, Meade TW. Association between dietary fat intake and plasma factor VII coagulant activity: a predictor of cardiovascular mortality. Atherosclerosis. 1986;60:269-277.
10. Iso H, Folsom AR, Wu KK, Finch A, Munger RG, Sato S, Shimamoto T, Terao A, Komachi Y. Hemostatic variables in Japanese and Caucasian men: plasma fibrinogen, factor VIIc, factor VIIIc, and von Willebrand factor and their relations to cardiovascular disease risk factors. Am J Epidemiol. 1989;130:925-934.
11. Kario K, Matsuo T. Coronary artery disease and factor VII hyperactivity in elderly Japanese. Am J Cardiol. 1992;69:807-809.
12. Kario K, Narita N, Matsuo T, Kayaba K, Tsutsumi A, Matsuo M, Miyata T, Shimada K. Genetic determinants of plasma FVII activity in the Japanese. Thromb Haemost. 1995;73:617-622.
13. Marchetti G, Patracchini P, Papacchini M, Ferrati M, Bernardi F. A polymorphism in the 5′ region of coagulation factor VII gene (F7) due to an inserted decanucleotide. Hum Genet. 1993;90:575-576.
14. Bernardi F, Patracchini P, Gemmati D, Ferrati M, Arcieri P, Papacchini M, Redaelli R, Baudo F, Mariani G, Marchetti G. Molecular analysis of factor VII deficiency in Italy: a frequent mutation (FVII Lazio) in a repeated intronic region. Hum Genet. 1993;92:446-450.
15. Poggio M, Tripodi A, Mariani G, Mannucci PM. Factor VII clotting assay: influence of different thromboplastins and factor VII-deficient plasmas. Thromb Haemost. 1991;65:160-164.
16. Tirindelli MC, Mariani G, Mazzucconi MG, Iacopino G, Carbonaro M, Ghirardini A, Motta M, Mancelli F. Evaluation of factor VII antigen in factor VII congenital deficiencies with a new ELISA assay. Am J Hematol. 1987;26:313-321.
17. Bernardi F, Marchetti G, Guerra S, Casonato A, Gemmati D, Patracchini P, Ballerini G, Conconi F. A de novo and heterozygous gene deletion causing a variant of von Willebrand disease. Blood. 1990;75:677-683.
18. O'Hara PJ, Grant FJ, Haldeman BA, Gray CL, Insley MY, Hagen FS, Murray MJ. Nucleotide sequence of the gene coding for human factor VII, a vitamin K-dependent protein participating in blood coagulation. Proc Natl Acad Sci USA. 1987;84:5158-5162.
19. Terwilliger JD, Ott J. Handbook of Human Genetic Linkage. Baltimore, Md: Johns Hopkins University Press; 1994.
20. Chakravarti A, Buetow KH, Antonarakis SE, Waber PG, Boehm CD, Kazanzian HH. Nonuniform recombination within the human beta-globin gene cluster. Am J Hum Genet. 1984;36:1239-1258.
21. Sing CF, Davignon J. Role of apolipoprotein E polymorphism in determining normal plasma lipid and lipoprotein variation. Am J Hum Genet. 1985;37:268-285.
22. Haverkate F, Thompson SG, Duckert F. Haemostatic factors in angina pectoris - relation to gender, age and acute-phase reaction: results of the ECAT Angina Pectoris Study Group. Thromb Haemost. 1995;73:561-567.
23. Humphries SE, Cook M, Dubowitz M, Stirling Y, Meade TW. Role of genetic variation at the fibrinogen locus in determination of plasma fibrinogen concentrations. Lancet. 1987;1:1452-1455.
24. Arbini AA, Bauer KA. Reduced plasma factor VII coagulant activity due to the Arg353Gln polymorphism in the factor VII gene results from defective secretion. Blood. 1994;84:86A. Abstract.