Key result
The 20210G-->A prothrombin gene mutation was absent in 449 Chinese subjects, compared to a 4.6% prevalence in Australian Caucasians with a history of thromboembolism.
Why the study?
What is the prevalence of the 20210G-->A prothrombin gene mutation in Chinese versus Caucasian populations, and does it explain differences in venous thromboembolism rates?
Observational (n=751)
What is the prevalence of the 20210G-->A prothrombin gene mutation in Chinese versus Caucasian populations, and does it explain differences in venous thromboembolism rates?
The 20210G-->A prothrombin gene mutation is extremely rare or absent in the Chinese population, suggesting it is not a primary cause of venous thromboembolism in this group.
Answers are grounded in this paper and cite their sources.
Ethnicity must inform prothrombin mutation testing in VTE; leaves open generalizability of Caucasian prevalence data.
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.
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Chan et al. (2000) conducted an observational in Thromboembolism (n=751). 20210G-->A mutation in the prothrombin gene vs. Caucasian ethnicity was evaluated on Prevalence of the 20210G-->A mutation. The 20210G-->A prothrombin gene mutation was absent in 449 Chinese subjects, compared to a 4.6% prevalence in Australian Caucasians with a history of thromboembolism.
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