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Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1995 Jul;32(7):543–545. doi: 10.1136/jmg.32.7.543

Population differences in the frequency of the factor V Leiden variant among people with clinically symptomatic protein C deficiency.

P J Hallam 1, D S Millar 1, M Krawczak 1, V V Kakkar 1, D N Cooper 1
PMCID: PMC1050547  PMID: 7562967

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.

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Selected References

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