Detection of two missense mutations and characterization of a repeat polymorphism in the factor VII gene (F7)

Marchetti, Giovanna; Patracchini, P.; Gemmati, Donato; DeRosa, V.; Pinotti, Mirko; Rodorigo, G.; Casonato, Alessandra; Girolami, Antonio; Bernardi, Francesco

doi:10.1007/bf00219173

Cited by 76 publications

(50 citation statements)

References 35 publications

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“…31 In our study, the well-known association between the rarer alleles and decreased FVII levels was observed. [17][18][19][20]32 Furthermore, we observed a positive correlation between FVII and BP as previously reported. 14 -16 Despite the high disequilibrium found between the 2 polymorphisms in several populations, data suggest that it is possible that both polymorphisms are functionally relevant: the 2 polymorphisms may be responsible for as much as one third of the variation in FVII levels.…”

Section: Discussionsupporting

confidence: 90%

“…14 -16 Genetic variations in the FVII gene, the Arg353Gln and the Ϫ323Del/Ins polymorphisms, have been related to FVII levels and coagulant activity. [17][18][19][20] An association between BP and the Arg353Gln polymorphism was described in a genetic isolate. 21 Therefore, the purpose of this study was to investigate the association of these 2 polymorphisms with BP levels and hypertension in a large, family-based population.…”

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confidence: 99%

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Association Between Factor VII Polymorphisms and Blood Pressure

Sass

Blanquart²,

Morange³

et al. 2004

Hypertension

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Abstract-The purpose this study was to determine whether Arg353Gln and Ϫ323Del/Ins polymorphisms of factor VII (FVII) are related to blood pressure levels and hypertension. Subjects were drawn from the Stanislas Cohort, a longitudinal, familial French cohort examined twice since 1994. The "blood pressure study" included 1342 subjects free of medication use that could affect blood pressure. The "hypertension study" included 645 normotensive and 77 hypertensive adult subjects. Association with hypertension was also studied in 547 hypertensives enrolled in a clinical trial and in 624 normotensives drawn from the Stanislas Cohort. In the "blood pressure study," parents with the 353Gln or Ϫ323Ins allele had lower blood pressures than did noncarriers at each examination, independent of covariates (0 [1][2][3][4] and blood pressure (BP) and/or hypertension have been described. Association studies cannot establish whether abnormalities of rheology and coagulation occur as a consequence of the higher BP or whether these could be factors that contribute to high BP. However, data suggest that hemorheologic factors may be implicated in BP homeostasis. Thrombin, in addition to converting fibrinogen to fibrin, can interact with cell-surface receptors and induce several intracellular pathways. 5,6 Proangiogenic activities of thrombin have been described, 5 and thrombin can also modulate vascular tone 7 and have proinflammatory properties. 8 All of these factors can play a role in initiating and maintaining an elevation in BP.Factor VII (FVII) is a key factor in the coagulation cascade leading to the production of thrombin. FVII also elicits several cellular responses, such as angiogenesis 9 -11 and inflammation, 12,13 that may be related to hypertension, and associations between FVII and BP have been found. 14 -16 Genetic variations in the FVII gene, the Arg353Gln and the Ϫ323Del/Ins polymorphisms, have been related to FVII levels and coagulant activity. [17][18][19][20] An association between BP and the Arg353Gln polymorphism was described in a genetic isolate. 21 Therefore, the purpose of this study was to investigate the association of these 2 polymorphisms with BP levels and hypertension in a large, family-based population. Methods BP StudyThe study population was selected from the Stanislas Cohort 22 For the present study, 1342 individuals (657 men and 686 women from 424 families) were selected on the basis of the following criteria: (1) subjects were present at both the first (T0) and second (Tϩ5) examinations; (2) data from both examinations and information on FVII Arg353Gln and Ϫ323Del/Ins genotypes were available; and (3) at each visit, there was no indication of antihypertensive, lipidlowering, or anti-inflammatory drug use. Hypertension Studies Sample Group 1The normotensive subjects were drawn from the "blood pressure levels study" sample population. There were 295 fathers and 350 mothers with a systolic blood pressure (SBP)/diastolic blood pres-

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Section: Discussionsupporting

confidence: 90%

mentioning

confidence: 99%

Association Between Factor VII Polymorphisms and Blood Pressure

Sass

Blanquart²,

Morange³

et al. 2004

Hypertension

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“…They revealed the additional presence of FVII deficiency with plasma FVII:C levels of less than 1% and normal levels of FVII:Ag (Table I). FVII mutational analysis identified in both probands the presence, in the homozygote state, of the previously reported missense mutation Cys310Phe [6,7].…”

Section: Case Reportmentioning

confidence: 62%

A rare inherited coagulation disorder: Combined homozygous factor VII and factor X deficiency

et al. 2004

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The combined presence in the homozygous state of more than one recessively transmitted coagulation defect may rarely occur in countries with a high rate of consanguinity. In an Iranian family consisting of two parents (second cousins) and two affected siblings, initial phenotypic analysis led to a diagnosis of mild FX deficiency (10-19% FX activity, 42-54% FX:Ag), and genotyping revealed a new homozygous missense mutation in the corresponding gene (Ser3Cys). As both of the sibs had a severe bleeding history that was not compatible with mild deficiency of FX, further phenotypic analysis revealed the additional presence of severe FVII deficiency (<1% FVII activity; 63-111% FVII:Ag) associated with the homozygous missense gene mutation Cys310Phe. In this kindred, lack of identification of the double coagulation defect might have led not only to incomplete understanding of the clinical phenotype but also to an incorrect prenatal diagnosis.

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“…Indeed FVII deficiency, despite its modest frequency, is one of the most extensively investigated bleeding disorders. The first mutations in FVII deficiency have been described 25 years ago in Italian patients (11) and registers (12) and database (13) reporting FVII genotyping in more than 1,000 subjects are now available. The clinical symptomatology of FVII deficiency does not completely overlap with that of other more frequent conditions, as Hemophilia A and Hemophilia B.…”

Section: Factor VII (Fvii) Deficiencymentioning

confidence: 99%