Title
Genetic modulation of coagulation factor VII plasma levels: Contribution of different polymorphisms and gender-related effects
Author
Di Castelnuovo, A.
D'Orazio, A.
Amore, C.
Falanga, A.
Kluft, C.
Donati, M.B.
Lacoviello, L.
Gaubius Instituut TNO
Publication year
1998
Abstract
We studied the relationships among different polymorphisms of FVII gene in determining FVII levels, in a sample of 335 male and female Italian volunteers. The hypervariable region 4 (HVR4), the promoter decanucleotide insertion (-323 0/10 bp) and the R353Q polymorphisms of FVII gene were evaluated. The association of HVR4 or -323 0/10 bp polymorphism with plasma FVII levels differed between gender (Interaction term: p = 0.02 and p = 0.03, respectively), showing stronger effect in males than in females. In males, the R353Q and the HVR4 polymorphisms showed an incremental influence on FVII variance (F = 8.9, p < 0.001 and F = 4.4, p = 0.01, respectively). Moreover, the effects of Q and 10 bp alleles on the reduction of FVII activity levels were significantly potentiated by the presence of H7 allele of HVR4 (Interaction term p = 0.03 for R353Q*HVR4 and p = 0.03 for -323 0/10 bp*HVR4). In conclusion, the effect of FVII polymorphisms on FVII levels was gender dependent and derived from a complex interaction among them. HVR4 polymorphism seems to add an independent, albeit small, contribution to the regulation of FVII plasma levels.
Subject
Biology
Adult
Alleles
Factor VII
Female
Humans
Italy
Male
Middle Aged
Polymorphism, Genetic
Sex Factors
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DOI
https://doi.org/10.1055/s-0037-1615427
TNO identifier
234637
ISSN
0340-6245
Source
Thrombosis and Haemostasis, 80 (4), 592-597
Document type
article