Dysfunction of protein C anticoagulant system, main genetic risk factor for venous thromboembolism in Northeast Asians

摘要: Venous thromboembolism (VTE) is a life threatening medical disorder worldwide. A great deal of evidence suggests that prevalence VTE varies significantly among ethnic populations, with consistently lower incidence found in Asians. While the distribution genetic risk factors may vary races, can play major role individuals different backgrounds. Two clinically evaluated low-frequency mutations predispose to VTE--the factor V Leiden mutation and prothrombin G20210A mutation--are predominantly Caucasians, virtually never The findings recent study northeast Asians, which greatly advanced our knowledge this area, indicate most frequent for Asians be attributed dysfunction protein C anticoagulant system. Several mutations, PROS1 p.Lys196Glu Japanese PROC p.Arg189Trp p.Lys193del Chinese, are associated increased VTE, odds ratio more than 2 through reduced activity. Construction multifactorial model based on system could facilitate counseling these populations. influence prevalent should further investigated Asian countries.