Genotype distribution of the mutations in the coagulation factor V gene in the Korean population: Absence of its association with coronary artery disease

Mutations in the factor V gene are major risk markers for venous thrombosis. Several factors for blood coagulation have been related with cardiovascular disease. I investigated genotype distribution for three mutations (G1691A, A2379G and G2391 A) of the factor V gene in the Korean population. Genotype frequencies were examined by polymerase chain reaction in 135 patients with coronary artery disease (CAD) and 116 healthy subjects. For the G1691A mutation (factor V Leiden), no mutation was detected in either group. Allele frequencies of A2379G and G2391A mutations were not significantly different between CAD patients and controls. Non‐Caucasian populations have a considerably lower factor V Leiden allele frequency than Caucasian populations. Thus, it may be due to differences in the genetic background as well as environmental factors.