Clinical and Applied Thrombosis/Hemostasis · 2007 · 13 citations · 46 references
Hereditary ThrombophiliaGeneticsImmunodeficienciesGenetic EpidemiologyImmunologyPathologyHuman PolymorphismClinical GeneticsThrombosisHematologyPublic HealthAtherosclerosisAutoimmune DiseaseFactor V LeidenStatistical GeneticsGenetic FactorEpidemiologyAllelic VariantGenetic DisorderPathogenesisMedicineProtein C Resistance
A common cause of hereditary thrombophilia is activated protein C resistance (APCR), and most cases result from factor V Leiden mutation. An APCR phenotype without association with factor V Leiden has been described. This transversal, observational, nonrandomized study evaluated these 2 phenomena in healthy indigenous and mestizo Mexican subjects (n = 4345), including 600 Mexican natives. No indigenous subjects had APCR, but 82 mestizo subjects did. After retesting, 50 subjects had a negative test. The remaining 32 subjects had factor V Leiden, giving a 0.85% prevalence of factor V Leiden in the mestizo Mexican population. Only 31% of APCR carriers had factor V Leiden. These results show a very low prevalence of APCR and factor V Leiden in Mexico. Except for factor V Leiden, there are no other mutations in the factor V gene responsible for the APCR phenotype. Acquired APCR is nearly twice as prevalent as the inherited variant.
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Mutation in blood coagulation factor V associated with resistance to activated protein C
Rogier M. Bertina, Bobby P. C. Koeleman, Ted Koster et al. · Nature · 1994 · 3.8K citations
Björn Dahlbäck, Martin Carlsson, Peter J. Svensson · Proceedings of the National Academy of Sciences · 1993 · 2K citations · Full text
World distribution of factor V Leiden
David C. Rees, Michael J. Cox, J. B. Clegg · The Lancet · 1995 · 1.2K citations