Geographic Distribution of the 20210 G to A Prothrombin Variant


Rosendaal, F.R. and Doggen, C.J.M. and Zivelin, A. and Arruda, V.R. and Aiach, M. and Siscovick, D.S. and Hillarp, A. and Watzke, H.H. and Bernardi, F. and Cumming, A.M. and Preston, F.E. and Reitsma, P.H. (1998) Geographic Distribution of the 20210 G to A Prothrombin Variant. Thrombosis and Haemostasis, 79 (4). pp. 706-708. ISSN 0340-6245

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Abstract:A variant in prothrombin (clotting factor II), a G to A transition atnucleotide position 20210, has recently been shown to be associatedwith the prothrombin plasma levels and the risk of both venous andarterial thrombosis. The purpose of this study was to investigate theprevalence of carriership of this mutation in various populations.We combined data from 11 centres in nine countries, where testsfor this mutation had been performed in groups representing thegeneral population. We calculated an overall prevalence estimate, by aprecision-weighted method, and, since the distribution of the prevalencesdid not appear homogeneous, by an unweighted average ofthe prevalences. We examined differences in the prevalences bygeographical location and ethnic background as a possible explanationfor the heterogeneity.Among a total of 5527 individuals who had been tested, 111 heterozygouscarriers of the 20210A mutation were found. The prevalenceestimates varied from 0.7 to 4.0 between the centres. The overallprevalence estimate was 2.0 percent (CI95 1.4-2.6%). The variationaround the summary estimate appeared more than was expected bychance alone, and this heterogeneity could be explained by geographicdifferences. In southern Europe, the prevalence was 3.0 percent (CI952.3 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 rarein individuals from Asian and African descent.The 20210A prothrombin variant is a common abnormality, with aprevalence of carriership between one and four percent. It is morecommon in southern than in northern Europe. Since this distributionwithin Europe is very different to that of another prothrombotic mutation (factor V Leiden or factor V R506Q), founder effects are the mostlikely explanation for the geographical distribution of both mutations
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