Rosendaal F R, Doggen C J, Zivelin A, Arruda V R, Aiach M, Siscovick D S, Hillarp A, Watzke H H, Bernardi F, Cumming A M, Preston F E, Reitsma P H
Department of Clinical Epidemiology, Leiden University Medical Centre, The Netherlands.
Thromb Haemost. 1998 Apr;79(4):706-8.
A variant in prothrombin (clotting factor II), a G to A transition at nucleotide position 20210, has recently been shown to be associated with the prothrombin plasma levels and the risk of both venous and arterial thrombosis. The purpose of this study was to investigate the prevalence of carriership of this mutation in various populations. We combined data from 11 centres in nine countries, where tests for this mutation had been performed in groups representing the general population. We calculated an overall prevalence estimate, by a precision-weighted method, and, since the distribution of the prevalences did not appear homogeneous, by an unweighted average of the prevalences. We examined differences in the prevalences by geographical location and ethnic background as a possible explanation for the heterogeneity. Among a total of 5527 individuals who had been tested, 111 heterozygous carriers of the 20210A mutation were found. The prevalence estimates varied from 0.7 to 4.0 between the centres. The overall prevalence estimate was 2.0 percent (CI95 1.4-2.6%). The variation around the summary estimate appeared more than was expected by chance alone, and this heterogeneity could be explained by geographic differences. In southern Europe, the prevalence was 3.0 percent (CI95 2.3 to 3.7%), nearly twice as high as the prevalence in northern Europe (1.7%, CI95 1.3 to 2.2%). The prothrombin variant appeared very rare in individuals from Asian and African descent. The 20210A prothrombin variant is a common abnormality, with a prevalence of carriership between one and four percent. It is more common in southern than in northern Europe. Since this distribution within Europe is very different to that of another prothrombotic mutation (factor V Leiden or factor V R506Q), founder effects are the most likely explanation for the geographical distribution of both mutations.
凝血酶原（凝血因子II）基因的一个变异，即核苷酸位置20210处的G到A转换，最近已被证明与凝血酶原血浆水平以及静脉和动脉血栓形成风险相关。本研究的目的是调查该突变携带者在不同人群中的患病率。我们汇总了来自9个国家11个中心的数据，这些中心对代表普通人群的群体进行了该突变检测。我们通过精确加权法计算总体患病率估计值，并且由于患病率分布似乎不均匀，我们还计算了患病率的未加权平均值。我们研究了地理位置和种族背景在患病率上的差异，以此作为异质性的一种可能解释。在总共5527名接受检测的个体中，发现了111名20210A突变的杂合携带者。各中心之间的患病率估计值在0.7%至4.0%之间。总体患病率估计值为2.0%（95%置信区间1.4 - 2.6%）。汇总估计值周围的变异似乎比仅由偶然因素预期的要大，这种异质性可以用地理差异来解释。在南欧，患病率为3.0%（95%置信区间2.3至3.7%），几乎是北欧患病率（1.7%，95%置信区间1.3至2.2%）的两倍。凝血酶原变异在亚洲和非洲裔个体中似乎非常罕见。20210A凝血酶原变异是一种常见异常，携带者患病率在1%至4%之间。它在南欧比在北欧更常见。由于欧洲内部这种分布与另一种促血栓形成突变（因子V莱顿或因子V R506Q）的分布非常不同，奠基者效应最有可能解释这两种突变的地理分布。
