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Thromb Haemost 1998; 80(03): 366-369
DOI: 10.1055/s-0037-1615212
Rapid Communications
Schattauer GmbH

The Prothrombin 20210A Allele Is the Most Prevalent Genetic Risk Factor for Venous Thromboembolism in the Spanish Population

Juan Carlos Souto
1   From Unitat d‘Hemostàsia i Trombosi
,
Inma Coll
1   From Unitat d‘Hemostàsia i Trombosi
,
Dolors Llobet
1   From Unitat d‘Hemostàsia i Trombosi
,
Elisabeth del Río
2   From Servei de Genètica, Hospital de la Santa Creu i Sant Pau
,
Arturo Oliver
3   From Fundació Puigvert, Barcelona, Spain
,
José Mateo
1   From Unitat d‘Hemostàsia i Trombosi
,
Montserrat Borrell
1   From Unitat d‘Hemostàsia i Trombosi
,
Jordi Fontcuberta
1   From Unitat d‘Hemostàsia i Trombosi
› Author Affiliations
Further Information

Publication History

Received 10 February 1998

Accepted after resubmission 02 June 1998

Publication Date:
08 December 2017 (online)

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Summary

We investigated the prevalence of the new recently reported mutation in the prothrombin gene (20210 A) in a sample of 116 unrelated patients with venous thromboembolism. We found 20 heterozygous carriers (17.2%, CI 95% 10.4-21.1). In comparison, we observed 13 carriers among 201 healthy unmatched controls (6.5%, CI 3.5-10.8). The 20210 A mutation seems to increase the risk of venous thrombosis 3-fold (odds ratio 3.1, 95% CI 1.4-6.6). Considering only patients with a first event (n = 62) the OR was 2.0 (p = 0.18, NS) while those with recurrent events (n = 54) showed an OR of 5.9 (95% CI 2.5-14.4). A majority of heterozygous patients (55%) presented a second thrombophilic factor and 60% of affected females had their first event before 30 years of age, while on oral contraceptive treatment. The prevalence found in this study for healthy people is the highest reported to date. The 20210 A variant appears to be the most prevalent genetic risk factor among patients with thrombosis in our geographical area.

 

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