title: Low prevalence of activated protein C resistance and coagulation factor V Arg506 to Gln mutation among Japanese patients with various forms of thrombosis, and normal individuals.
abstract: Resistance to activated protein C (APC), recently reported to be the most prevalent inherited cause of thrombosis among Caucasians, is associated with a single point mutation in the coagulation factor V gene. We investigated the prevalence of APC resistance and the factor V gene mutation (R506Q) in 34 consecutive Japanese patients with venous thrombosis or pulmonary thromboembolism and 63 control subjects. Three of the 33 patients examined (9%) had an APC ratio below the 5th percentile of control values (2.27), but all were above 2.0. The factor V mutation (R506Q) was not detected in the 29 patients studied, including the 3 patients whose APC ratios were below 2.27, or in 53 controls. In a tissue factor-based factor V assay to detect APC resistance recently described by Le et al. (Blood 1995;85:1704-1711), all patients studied were found to be normal including the three with a low APC ratio. We conclude that APC resistance and factor V gene mutation are less prevalent in Japan than in several European countries.
authors.affiliation: Department of Medicine, Keio University School of Medicine, Tokyo, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Zama
authors.forename: M
authors.initials: M
authors.lastname: Murata
authors.forename: F
authors.initials: F
authors.lastname: Ono
authors.forename: K
authors.initials: K
authors.lastname: Watanabe
authors.forename: R
authors.initials: R
authors.lastname: Watanabe
authors.forename: T
authors.initials: T
authors.lastname: Moriki
authors.forename: K
authors.initials: K
authors.lastname: Yokoyama
authors.forename: M
authors.initials: M
authors.lastname: Tokuhira
authors.forename: Y
authors.initials: Y
authors.lastname: Ikeda
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001120:Arginine / Q000737:chemistry*; D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D004351:Drug Resistance / Q000235:genetics; D005165:Factor V / Q000737:chemistry / Q000235:genetics*; D005260:Female; D005973:Glutamine / Q000737:chemistry*; D006801:Humans; D007564:Japan; D008297:Male; D008875:Middle Aged; D015995:Prevalence; D011486:Protein C / Q000494:pharmacology*; D013927:Thrombosis / Q000453:epidemiology / Q000235:genetics*
chemical_list: D011486:Protein C; D005973:Glutamine; D005165:Factor V; D001120:Arginine