title: Population differences in the frequency of the factor V Leiden variant among people with clinically symptomatic protein C deficiency.
abstract: The factor V Leiden variant, responsible for the phenomenon of activated protein C resistance, was found to be less frequent among British (0.06) and Swedish/Danish (0.15) protein C deficiency patients than previously reported in a Dutch study (0.19). In the Swedish population, a significantly increased frequency of the factor V Leiden allele was apparent in protein C deficiency patients as compared to healthy controls. However, this was not found in the British population. Coinheritance of the factor V Leiden variant is therefore unlikely to be the sole determinant of whether a person with protein C deficiency will come to clinical attention. Nevertheless, when patient data were analysed by type of protein C deficiency, it was noted that the frequency of the factor V Leiden variant was 2.8-fold higher in type II patients compared to type I patients. A possible explanation of this disparity is discussed.
authors.affiliation: Charter Molecular Genetics Laboratory, Thrombosis Research Institute, London, UK.
authors.forename: P J
authors.initials: PJ
authors.lastname: Hallam
authors.forename: D S
authors.initials: DS
authors.lastname: Millar
authors.forename: M
authors.initials: M
authors.lastname: Krawczak
authors.forename: V V
authors.initials: VV
authors.lastname: Kakkar
authors.forename: D N
authors.initials: DN
authors.lastname: Cooper
mesh_terms: D000483:Alleles; D004789:Enzyme Activation; D005006:Ethnicity / Q000235:genetics; D005165:Factor V / Q000235:genetics*; D005166:Factor V Deficiency / Q000145:classification / Q000208:ethnology / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005858:Germany / Q000453:epidemiology; D006801:Humans; D008297:Male; D020151:Protein C Deficiency; D012537:Scandinavian and Nordic Countries / Q000453:epidemiology; D013927:Thrombosis / Q000235:genetics*; D006113:United Kingdom / Q000453:epidemiology
chemical_list: C095381:factor V Leiden; D005165:Factor V