Geographic Distribution of the 20210 G to A Prothrombin Variant

F. R. Rosendaal; C. J. M. Doggen; A. Zivelin; V. R. Arruda; M. Aiach; D. S. Siscovick; A. Hillarp; H. H. Watzke; F. Bernardi; A. M. Cumming; F. E. Preston; P. H. Reitsma

doi:10.1055/s-0037-1615049

Thrombosis and Haemostasis, Table of Contents

Thromb Haemost 1998; 79(04): 706-708
DOI: 10.1055/s-0037-1615049

Rapid Communication

Schattauer GmbH

Geographic Distribution of the 20210 G to A Prothrombin Variant

F. R. Rosendaal

¹Department of Clinical Epidemiology, Leiden University Medical Centre, Leiden, The Netherlands

²Department of Hematology, Leiden University Medical Centre, Leiden, The Netherlands

,

C. J. M. Doggen

¹Department of Clinical Epidemiology, Leiden University Medical Centre, Leiden, The Netherlands

,

A. Zivelin

³Institute of Thrombosis and Hemostasis, Department of Hematology, Sheba Medical Centre, Tel-Hashomer, Israel

,

V. R. Arruda

⁴Hematology-Hemotherapy Centre, State University of Campinas, Campinas, Brazil

,

M. Aiach

⁵Laboratory of Hemostasis, Broussais Hospital, Paris, France

,

D. S. Siscovick

⁶Department of Epidemiology, Department of Internal Medicine, University of Washington, Seattle, USA

,

A. Hillarp

⁷Department of Clinical Chemistry, Lund University, Malmö, Sweden

,

H. H. Watzke

⁸Department of Hematology and Hemostasiology, University of Vienna, Vienna, Austria

,

F. Bernardi

⁹Department of Biochemistry and Molecular Biology, University of Ferrara, Ferrara, Italy

,

A. M. Cumming

¹⁰Department of Haematology, Manchester Royal Infirmary, Manchester, United Kingdom

,

F. E. Preston

¹¹Haemophilia and Thrombosis Centre, Royal Hallamshire Hospital, Sheffield, United Kingdom

,

P. H. Reitsma

¹²Laboratory for Experimental Internal Medicine, Academic Medical Centre, Amsterdam, The Netherlands

› Author Affiliations

Abstract

Summary

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.

Full Text

References

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