title: Activated protein C anticoagulant system dysfunction and thrombophilia in Asia.
abstract: Thrombophilia that is common among Caucasians is caused by genetic polymorphisms of coagulation factor V Leiden (R506Q) and prothrombin G20210A. Unlike that in Caucasians, thrombophilia that is common in the Japanese and Chinese involve dysfunction of the activated protein C (APC) anticoagulant system caused by abnormal protein S and protein C molecules. Approximately 50% of Japanese and Chinese individuals who develop venous thrombosis have reduced activities of protein S. The abnormal sites causing the protein S molecule abnormalities are distributed throughout the protein S gene, PROS1. One of the most common abnormalities is protein S Tokushima (K155E), which accounts for about 30% of the protein S molecule abnormalities in the Japanese. Whether APC dysfunction occurs in other Asian countries is an important aspect of mapping thrombophilia among Asians. International surveys using an accurate assay system are needed to determine this.
authors.affiliation: Department of Clinical Chemistry, Faculty of Pharmaceutical Sciences, Natagaki International University, Nagasaki, Japan. hamasaki-nao@niu.ac.jp
authors.forename: Naotaka
authors.initials: N
authors.lastname: Hamasaki
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Kuma
authors.forename: Hiroko
authors.initials: H
authors.lastname: Tsuda
mesh_terms: D044466:Asian People; D001777:Blood Coagulation; D001798:Blood Proteins / Q000235:genetics / Q000378:metabolism; D006801:Humans; D011486:Protein C / Q000235:genetics / Q000378:metabolism*; D017293:Protein S / Q000737:chemistry / Q000235:genetics / Q000378:metabolism; D019851:Thrombophilia / Q000453:epidemiology / Q000209:etiology*; D020246:Venous Thrombosis / Q000209:etiology / Q000235:genetics
chemical_list: D001798:Blood Proteins; C523390:PROS1 protein, human; D011486:Protein C; D017293:Protein S; C083863:protein S Tokushima
keywords: Activated protein C anticoagulant system; Asian thrombophilia; Deep vein thrombosis; Protein S; Quantitative assay of protein S; Venous thromboembolism