Inherited defects of coagulation Factor V: the thrombotic side

Abstract

To cite this article: Vos HL. Inherited defects of coagulation Factor V: the thrombotic side. J Thromb Haemost 2006; 4: 35-40.

Joint effects of cancer and variants in the factor 5 gene on the risk of venous thromboembolism

“…15 Activated factor V (FV) acts as an important cofactor in the coagulation cascade by facilitating conversion of prothrombin to thrombin and by promoting degradation of activated factor VIII together with activated protein C (APC) and protein S. 16,17 Variations in the factor 5 gene (F5) commonly result in attenuated down-regulation of activated FV by APC. 18 The rs4524 single nucleotide polymorphism (169542517T>C) is the result of a missense mutation (lysine to arginine) at position 2684 in the B-domain of F5 which is thought to result in APC resistance. 19 A missense mutation (arginine to glutamine) at position 506 results in the well-known factor V Leiden (FVL) (1691G>A, rs6025) single nucleotide polymorphism.…”

An online database of mutations and polymorphisms in and around the coagulation factor V gene

“…At present, many more deficiency-causing mutations in the FV gene have been described, both in patients with a haemorrhagic diathesis and in pseudohomozygotes for APC resistance [1]. In addition, many relatively common nucleotide changes in the coding domains of the FV gene have been reported, which have no effect on haemorrhagic risk; see Vos [6] for a recent review. Most of these are single nucleotide polymorphisms (SNPs), some of which alter the amino acid sequence of FV.…”

“…Often, relatively little is known about their effect on FV function. The possible consequences of the frequent missense polymorphisms in the coding regions of the FV gene have recently been discussed [6].…”

“…Current attempts to develop a suitable model to harmonize results should be actively pursued [6]. Efforts to improve the near-cut off between-assay reproducibility of D-dimer methods are also recommended.…”

“…The haplotype structure of the FV gene is complex [6] and has not been incorporated into the database. Interested readers are referred to the haplotype information that is available via the HapMap website and to the Genome Variation Server on the Seattle SNPs website (http://gvs.gs.washington.edu/GVS/; accessed 30 October 2006), which integrates information from the most important web-based resources and sorts the resulting genotypes.…”