A comparison of polymorphism in the 3′‐untranslated region of the prothrombin gene between Chinese and Caucasians in Australia

Abstract

The 20210G→A mutation in the 3′‐untranslated (UT) region of the prothrombin gene is extremely rare or absent in the Chinese population (0 in 449 subjects, 140 with a history of thromboembolism). This is in contrast to the results from 302 Caucasians from Australia in our study (4·6% in 153 patients with a thromboembolic history and 1·3% in 149 patients with no history). This rarity implies that the variant of the prothrombin gene is probably not the main cause of venous thromboembolism in the Chinese population. Even among Caucasians this mutation accounts for only a minor percentage of all patients with thromboembolism. The relatively low incidence of venous thromboembolism in the Chinese population compared with Caucasians is probably as a result of the low prevalence of factor V Leiden or other environmental or genetic factors.

The prevalence of inherited thrombophilic polymorphisms in an asymptomatic Australian antenatal population

“…Nevertheless, the findings from our current study, which included English-speaking, asymptomatic nulliparous women, are consistent with previous studies performed in Canada, 34 Ireland, 35 Greece, 36 Europe 37 and Caucasian Americans. 29 The prothrombin gene mutation, found in 2.43% of our population, was also higher than that previously reported in Asian, 27,38 African American 39 and Australian Aboriginal populations, 25 but consistent with previous Australian 40 and European studies. 41 A higher prevalence of this mutation has previously been described in Greek 36 and Southern European 41 populations.…”

Review article: the aetiology of primary Budd-Chiari syndrome - differences between the West and China

“…In the general population, the world distributions of factor V Leiden and prothrombin G20210A mutations are largely varied among the individuals of different ethnic origins. 128 Notably, compared with the Western general population, the factor V Leiden and prothrombin G20210A mutations are rarely observed in the Chinese general population [129][130][131][132][133][134][135][136] (Table S1). A pooled analysis demonstrated a significantly increased risk of the first venous thromboembolic event in individuals with the two mutations (heterozygous factor V Leiden: odds ratio = 4.22; homozygous factor V Leiden: odds ratio = 11.45; heterozygous prothrombin: odds ratio = 2.79; homozygous prothrombin: odds ratio = 6.74; double heterozygous: odds ratio = 3.42).…”

Normal ranges and genetic variants of antithrombin, protein C and protein S in the general Chinese population. Results of the Chinese Hemostasis Investigation on Natural Anticoagulants Study I Group

“…7 Factor V (FV) Leiden (FV R506Q) associated with activated protein C resistance (APC-R) 8,9 and factor II G20210A polymorphism, 10 the two most common genetic risk factors for venous thromboembolism in Western populations, are absent or very rare in Eastern populations. [11][12][13] By contrast, genetic deficiencies of the three main natural anticoagulants, antithrombin (AT), protein C (PC) and protein S (PS) are rare in Western countries but considered important risk factors for venous thromboembolism in Asian countries. [14][15][16][17][18][19][20] The diagnosis of AT, PC and PS deficiencies in Asians is, therefore, of substantial clinical interest.…”