Arg506-Gln mutation in factor V and risk of thrombosis during pregnancy.
Seventy women with thrombosis in pregnancy were investigated for the presence of APC resistance and the associated Arg506-Gln mutation in coagulation factor V. The mutation was found in 46% of the investigated women. Carriers of the mutation were more prone to develop thrombosis in the first pregnancy (OR (odds ratio) = 3.41; P < 0.05) and had a higher probability of recurrence (OR = 3.86; P < 0.05) compared to non-carriers. The incidence of miscarriage was not related to the mutation but its probability increased in women with thrombosis in a second or subsequent pregnancy (P < 0.025). Negative dynamics of APC response during pregnancy was observed in 20/22 women; eight of them developed APC resistance de novo. The suppression of APC response was independent of the mutation.
Bokarewa
M I
MI
Department of Laboratory Medicine/Blood Coagulation Research, Karolinska Institute, Stockholm, Sweden.
Bremme
K
K
Blombäck
M
M
D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D017931:DNA Primers; D005165:Factor V / Q000235:genetics*; D005260:Female; D006801:Humans; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D011247:Pregnancy; D011250:Pregnancy Complications, Hematologic / Q000209:etiology*; D012189:Retrospective Studies; D012307:Risk Factors; D013927:Thrombosis / Q000235:genetics*
D017931:DNA Primers; D005165:Factor V