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Polymorphisms in the factor VII gene and atherogenic risk


Sang Thrombose Vaisseaux. Volume 12, Number 4, 232-6, Avril 2000, Mini-revues

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Author(s) : Eva Cochery, Muriel Giansily, Patricia Aguilar Martinez, Jean-François Schved

Summary : Human factor VII (FVII) is a clotting plasma glycoprotein that plays a critical role in the initiation of the coagulation cascade. Several studies have been carried out to investigate the association between factor VII levels, FVII genotypes and cardiovascular diseases. Three common polymorphisms, namely, 5’F7, IVS7, R353Q have been described. They are located at the 5’ untranslated region, the hypervariable region 4 of intron 7 and in the exon 8 of the FVII gene respectively. Most studies are in agreement with regard to the allele frequency of these polymorphisms and with the existence of a relationship between FVII alleles and FVII levels. On the other hand, the exact contribution of each FVII allele to the biological phenotype and the link between these polymorphisms and the risk of cardiovascular diseases are still a matter of debate. Moreover, FVII polymorphisms are in linkage desequilibrium and FVII levels can also be affected by accompanying atherogenic risk factors. In conclusion, according to literature data, FVII plasma levels seemed to be substantially influenced by genetic factors. On the contrary, there is no clear evidence of a genetic propensity to high FVII levels to be associated with an increased risk of cardiovascular disease.

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