Subscribe to RSS
Please copy the URL and add it into your RSS Feed Reader.
https://www.thieme-connect.de/rss/thieme/en/10.1055-s-00035024.xml
Download PDF
Thromb Haemost 2005; 93(02): 351-358
DOI: 10.1160/TH04-09-0616
DOI: 10.1160/TH04-09-0616
Cell Signalling and Vessel Remodelling
Influence of factor VII gene polymorphisms and environmental factors on plasma coagulation factor VII concentrations in middleaged women with and without manifest coronary heart disease
Financial support: This work was supported by grants from the Swedish Medical Research Council, the Swedish Heart-Lung foundation, the British Heart Foundation (RG 2000/015), the US National Institute of Health, Bethesda MD (HL45785) and the Swedish Labour Market Insurance Company.
Further Information
Publication History
Received
21 September 2004
Accepted after revision
17 January 2004
Publication Date:
11 December 2017 (online)
Summary
Plasma concentrations of coagulation factorVII (FVII) are determined by environmental and genetic factors. The influence of functional polymorphisms in the FVII gene (-670A>C, –402G>A, –401G>T and R353Q) and of established cardiovascular risk factors on plasma concentrations of FVII were investigated in a representative sample of middle-aged women with (n=238) and without (n=220) coronary heart disease (CHD). Specific and sensitive assays were used to measure FVII antigen (VIIag) and activated factorVII (VIIa).The effect of genotypes was markedly stronger on VIIa than on VIIag, with the percentage variation in FVII levels accounted for by genotypes being greater in controls than in patients. Of the four polymorphisms examined, only the R353Q contributed to the variation inVIIa (24.1% in patients and 30.3% in controls). The –401G>T and –670A>C promoter polymorphisms together accounted for 12.2% of the variation in VIIag amongst patients whereas the –401G>T polymorphism alone contributed 19.7% of the variation in VIIag in controls. Serum triglycerides exerted a major influence onVIIag in both patients (13.0%) and controls (7.2%).Three main haplotypes emerged from the four polymorphisms which accounted for 98% of all haplotypes. Large-scale prospective studies of CHD including FVII haplotypes and sensitive and specific FVII measurements are needed in women.
-
References
- 1 Meade TW, Mellows S, Brozovic M. et al Haemostatic function and ischaemic heart disease: principal results of the Northwick Park Heart Study.. Lancet 1986; 2: 533-7.
- 2 Junker R, Heinrich J, Schulte H. et al Coagulation factor VII and the risk of coronary heart disease in healthy men.. Arterioscler Thromb Vasc Biol 1997; 17: 1539-44.
- 3 Smith FB, Lee AJ, Fowkes FGR. et al Hemostatic factors as predictors of ischemic heart disease and stroke in the Edinburgh Artery Study.. Arterioscler Thromb Vasc Biol 1997; 17: 3321-5.
- 4 Cooper JA, Miller GJ, Bauer KA. et al Comparison of novel hemostatic factors and conventional risk factors for prediction of coronary heart disease.. Circulation 2000; 102: 2816-22.
- 5 Balleisen L, Bailey J, Epping PH. et al Epidemiological study on factor VII, factor VIII and fibrinogen in an industrial population: 1. Baseline data on the relation to age, gender, body-weight, smoking, alcohol, pill-using and menopause.. Thromb Haemost 1985; 54: 475-9.
- 6 Folsom AR, Wu KK, Davis CE. et al Population correlates of plasma fibrinogen and factor VII, putative cardiovascular risk factors.. Atherosclerosis 1991; 91: 191-205.
- 7 Mennen I L, Schouten EG, Grobbee DE. et al Coagulation factor VII, dietary fat and blood lipids. A review.. Thromb Haemost 1996; 76: 492-9.
- 8 Kario K, Miyata T, Sakata T. et al Fluorogenic assay of activated factor VII. Plasma factor VIIa levels in relation to arterial cardiovascular disease in Japanese.. Arterioscler Thromb 1994; 14: 265-74.
- 9 Scarabin PY, Vissac AM, Kirzin JM. et al Population correlates of coagulation factor VII. Importance of age, sex, and menopausal status as determinants of activated factor VII.. Arterioscler Thromb Vasc Biol 1996; 16: 1170-6.
- 10 Green F, Kelleher C, Wilkes H. et al A common genetic polymorphism associated with lower coagulation factor VII levels in healthy individuals.. Arterioscler Thromb 1991; 11: 540-6.
- 11 Marchetti G, Gemmati D, Patracchini P. et al PCR detection of a repeat polymorphism within the F7 gene.. Nucleic Acids Res 1991; 19: 4570
- 12 Pinotti M, Toso R, Girelli D. et al Modulation of factor VII levels by intron 7 polymorphisms: population and in vitro studies.. Blood 2000; 95: 3423-8.
- 13 Bernardi F, Marchetti G, Pinotti M. et al Factor VII gene polymorphisms contribute about one third of the factor VII level variation in plasma.. Arterioscler Thromb Vasc Biol 1996; 16: 72-6.
- 14 Humphries S, Temple A, Lane A. et al Low plasma levels of factor VIIc and antigen are more strongly associated with the 10 base pair promoter (-323) insertion than the glutamine 353 variant.. Thromb Haemost 1996; 75: 567-72.
- 15 Dell’Acqua G, Iacoviello L, D’Orazio A. et al A polymorphic cluster in the 5’ region of the human coagulation factor VII gene: detection, frequency, and linkage disequilibrium.. Thromb Res 1997; 88: 445-8.
- 16 van't Hooft F, Silveira A, Tornvall P. et al Two common functional polymorphisms in the promoter region of the coagulation factor VII gene determining plasma factor VII activity and mass concentration.. Blood 1999; 93: 3432-41.
- 17 Carew JA, Basso F, Miller GJ. et al A functional haplotype in the 5’ flanking region of the factor VII gene is associated with an increased risk of coronary heart disease.. J Thromb Haemost 2003; 1: 2179-85.
- 18 Simmonds RE, Hermida J, Rezende SM. et al Haemostatic genetic risk factors in arterial thrombosis.. Thromb Haemostas 2001; 86: 374-85.
- 19 Wu AHB, Tsongalis GJ. Correlation of polymorphisms to coagulation and biochemical risk factors for cardiovascular disease.. Am J Cardiol 2001; 87: 1361-6.
- 20 Noto D, Barbagallo CM, Cefalu AB. et al Factor VII activity is an independent predictor of cardiovascular mortality in elderly women of a Sicilian population: Results of an 11-year follow-up.. Thromb Haemost 2002; 87: 206-10.
- 21 Folsom AR, Wu KK, Shahar E. et al Association of hemostatic variables with prevalent cardiovascular disease and asymptomatic carotid artery atherosclerosis.. Arterioscler Thromb 1993; 13: 1829-36.
- 22 Benamer H, de Prost D, Bridey F. et al Gender difference in factor VII and in activated factor VII levels in unstable angina.. Thromb Haemostas 1996; 75: 981
- 23 Eriksson-Berg M, Silveira A, Orth-Gomer K. et al Coagulation factor VII in middle-aged women with and without coronary heart disease.. Thromb Haemost 2001; 85: 787-92.
- 24 Di Castelnuovo A, D’Orazio A, Amore C. et al Genetic modulation of coagulation factor VII levels: contribution of different polymorphisms and genderrelated effects.. Thromb Haemost 1998; 80: 592-7.
- 25 Humphries SE, Lane A, Green FR. et al. Factor VII coagulant activity and antigen levels in healthy men are determined by interaction between factor VII genotype and plasma triglyceride concentration.. Arterioscler Thromb Vasci Biol 1994; 14: 193-8.
- 26 Mennen I L, de Maat MP, Schouten EG. et al Coagulation factor VII, serum-triglycerides and the R/Q353 polymorphism: differences between older men and women.. Thromb Haemost 1997; 78: 984-6.
- 27 Meilahn E, Ferrell R, Kiss J. et al Genetic determination of coagulation factor VIIc levels among healthy middle-aged women.. Thromb Haemost 1995; 73: 623-5.
- 28 Eriksson M, Egberg N, Wamala S. et al Relationship between plasma fibrinogen and coronary heart disease in women.. Arterioscler Thromb Vasc Biol 1999; 19: 67-72.
- 29 Orth-Gomer K, Mittleman MA, Schenck-Gustafsson K. et al Lipoprotein(a) as a determinant of coronary heart disease in young women.. Circulation 1997; 95: 329-34.
- 30 Morrissey JH, Macik BG, Neuenschwander PF. et al Quantitation of activated factor VII levels in plasma using a tissue factor mutant selectively deficient in promoting factor VII activation.. Blood 1993; 81: 734-44.
- 31 Silveira A, Green F, Karpe F. et al Elevated levels of factor VII activity in the postprandial state: effect of the factor VII Arg-Gln polymorphism.. Thromb Haemost 1994; 72: 734-9.
- 32 Jungner I, Walldius G, Holme I. et al Apolipoprotein B and A-I in relation to serum cholesterol and triglycerides in 43,000 Swedish males and females.. Int J Clin Lab Res 1992; 21: 247-55.
- 33 Chakravarti A, Buetow KH, Antonarakis SE. et al Nonuniform recombination within the human ß globin gene cluster.. Am J Hum Genet 1984; 36: 1239-58.
- 34 Tregouet DA, Barbaux S, Escolano S. et al Specific haplotypes of the P-selectin gene are associated with myocardial infarction.. Hum Mol Genet 2002; 11: 2015-23.
- 35 Tregouet DA, Escolano S, Tiret L. et al A new algorithm for haplotype-based association studies: the Stochastic-EM algorithm.. Ann Hum Genet 2004; 68: 165-77.
- 36 Hong Y, Pedersen NL, Egberg N. et al Genetic effects for plasma factor VII levels independent of and in common with triglycerides.. Thromb Haemost 1999; 81: 382-6.
- 37 De Lange M, Snieder H, Ariens RAS. et al The genetics of haemostasis: a twin study.. Lancet 2001; 357: 101-5.
- 38 Freeman MS, Mansfield MW, Barrett JH. et al Genetic contribution to circulating levels of hemostatic factors in healthy families with effects of known genetic polymorphisms on heritability.. Arterioscler Thromb Vasc Biol 2002; 22: 506-10.
- 39 Hunault M, Arbini AA, Lopaciuk S. et al The Arg353Gln polymorphism reduces the level of coagulation factor VII. In vivo and in vitro studies.. Arterioscler Thromb Vasc Biol 1997; 17: 2825-9.
- 40 Wildgoose P, Nemerson Y, Hansen LL. et al Measurement of basal levels of factor VIIa in hemophilia A and B patients.. Blood 1992; 80: 25-8.