Factor V HR2: An Ancient Haplotype out of Africa – Reasons for being Interested

Elena M. Faioni

doi:10.1055/s-0037-1613819

Thrombosis and Haemostasis, Table of Contents

Thromb Haemost 2000; 83(03): 358-359
DOI: 10.1055/s-0037-1613819

Commentary

Schattauer GmbH

Factor V HR2: An Ancient Haplotype out of Africa – Reasons for being Interested

Elena M. Faioni

¹From the A. Bianchi Bonomi Hemophilia and Thrombosis Center, I.R.C.C.S. Maggiore Hospital and Department of Internal Medicine, University of Milano, Italy

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Abstract

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References

References
1 Lunghi B, Iacoviello L, Gemmati D, Dilasio MG, Castoldi E, Pinotti M, Castaman G, Redaelli R, Mariani G, Marchetti G, Bernardi F. Detection of new polymorphic markers in the factor V gene: association with factor V levels in plasma. Thromb Haemost 1996; 75: 45-8.
2 Castoldi E, Rosing J, Girelli D, Hoekema L, Lunghi B, Mingozzi F, Ferraresi P, Friso S, Corrocher R, Tans G, Bernardi F. Mutations in the R2 FV gene affect the ratio between the two FV isoforms in plasma. Thromb Haemost 2000; 83: 362-5.
3 Bernardi F, Faioni EM, Castoldi E, Lunghi B, Castaman G, Sacchi E, Mannucci PM. A factor V genetic component differing from factor V R506Q contributes to the activated protein C resistance phenotype. Blood 1997; 90: 1552-7.
4 Rees DC. World distribution of factor V Leiden. Lancet 1995; 346: 1133.
5 Castaman G, Lunghi B, Missiaglia E, Bernardi F, Rodeghiero F. Phenotypic homozygous activated protein C resistance associated with compound heterozygosity for Arg506Gln (factor V Leiden) and His 1299Arg substitutions in factor V. Br J Haematol 1997; 99: 257-61.
6 Alhenc-Gelas M, Nicaud V, Gandrille S, van Dreden P, Amiral J, Aubry M-L, Fiessinger J-N, Emmerich J, Aiach M. The factor V gene A4070G mutation and the risk of venous thrombosis. Thromb Haemost 1999; 81: 193-7.
7 Faioni EM, Franchi F, Bucciarelli P, Margaglione M, De Stefano V, Castaman G, Finazzi G, Mannucci PM. Coinheritance of the HR2 haplotype in the factor V gene confers an increased risk of venous thromboembolism to carriers of factor V R506Q (factor V Leiden). Blood 1999; 94: 3062-6.
8 Luddington R, Jackson A, Pannerselvam S, Brown K, Baglin T. The factor V R2 allele: risk of venous thromboembolism, factor V levels and resistance to activated protein C. Thromb Haemost 2000; 83: 204-8.
9 Thorelli E, Kaufman RJ, Dahlbäck B. The C-terminal region of the factor V B-domain is crucial for the anticoagulant activity of factor V. J Biol Chem 1998; 273: 16140-5.
10 Hoekema L, Nicolaes GAF, Hemker HC, Tans G, Rosing J. Human factor Va1 and Va2: properties in the procoagulant and anticoagulant pathways. Biochem 1997; 36: 3331-5.
11 Nicolaes GA, Villoutreix BO, Dahlbäck B. Partial glycosilation of Asn2181 in human factor V as a cause of molecular and functional heterogeneity. Modulation of glycosilation efficiency by mutagenesis of the consensus sequence for N-linked glycosilation. Biochem 1999; 38: 13584-91.