The prothrombin gene G20210A variant: prevalence in a U.K. anticoagulant clinic population

We have investigated the prevalence of a recently reported genetic variation in the prothrombin gene (G20210A) in patients with an objectively confirmed history of venous thrombosis. 12/219 patients (5.5%) were found to be heterozygous carriers of the 20210 A allele. The incidence of the 20210 A all...

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Bibliographic Details
Published in:British journal of haematology 1997-08, Vol.98 (2), p.353-355
Main Authors: CUMMING, A. M., KEENEY, S., SALDEN, A., BHAVNANI, M., SHWE, K. H., HAY, C. R. M.
Format: Article
Language:English
Subjects:
Adult
Aged
Aged, 80 and over
Biological and medical sciences
Blood and lymphatic vessels
Cardiology. Vascular system
Diseases of the peripheral vessels. Diseases of the vena cava. Miscellaneous
England - epidemiology
Heterozygote
Humans
inherited thrombophilia
Medical sciences
Middle Aged
Prevalence
Prothrombin - genetics
prothrombin gene G20210A variant
Thrombophlebitis - epidemiology
Thrombophlebitis - genetics
venous thrombosis
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Summary:We have investigated the prevalence of a recently reported genetic variation in the prothrombin gene (G20210A) in patients with an objectively confirmed history of venous thrombosis. 12/219 patients (5.5%) were found to be heterozygous carriers of the 20210 A allele. The incidence of the 20210 A allele in a group of 164 healthy controls was 1.2% (allele frequency 0.61%, 95% CI 0.08–2.19). When patients with a known alternative hereditary risk factor for venous thrombosis (factor V Leiden mutation or deficiency of antithrombin, protein C or protein S) were excluded, the G20210A variant was found to increase the risk for venous thrombosis by approximately 5‐fold (odds ratio 5.4, 95% CI 1.16–25.0). This prothrombin gene sequence variation adds further to the list of recognized genetic risk factors for thrombophilia.
ISSN:0007-1048
1365-2141
DOI:10.1046/j.1365-2141.1997.2353052.x