Heterogeneous ethnic distribution of the factor V leiden mutation

Abstract

Inherited resistance to activated protein C caused by the factor V Leiden (FVL) mutation is the most common genetic cause of venous thrombosis yet described, being found in 20-60% of patients with venous thrombophilia. A relationship between the FVL mutation and an increased predisposition to arterial thrombosis in young women was recently reported. We assessed the prevalence of the FVL mutation in 440 individuals (880 chromosomes) belonging to four different ethnic groups: Caucasians, African Blacks, Asians and Amerindians. PCR amplification followed by MnlI digestion was employed to define the genotype. The FVL mutation was found in a heterozygous state in four out of 152 Whites (2.6%), one out of 151 Amerindians (0.6%), and was absent among 97 African Blacks and 40 Asians. Our results confirm that FVL has a heterogeneous distribution in different human populations, a fact that may contribute to geographic and ethnic differences in the prevalence of thrombotic diseases. In addition, these data may be helpful in decisions regarding the usefulness of screening for the FVL mutation in subjects at risk for thrombosis.