The VITA project: prothrombin G20210A mutation and venous thromboembolism in the general population
- PMID: 10595625
The VITA project: prothrombin G20210A mutation and venous thromboembolism in the general population
Abstract
Recently a new identified genetic variant in the 3'-untranslated region of the prothrombin gene (G20210A allele) associated with increased plasma prothrombin levels has been linked to an increased risk of venous thromboembolism (VTE). Most of our knowledge on the G20210A allele as a risk factor for VTE derives from a population-based case-control study and from studies on selected series of VTE patients. To determine the importance of the G20210A allele as a causative risk factor for VTE in the general population, we analyzed the cross-sectional data of the Vicenza Thrombophilia and Atherosclerosis (VITA) Project. One hundred sixteen cases of VTE, ascertained in a random fashion within the general population aged 18-65, were age and sex-matched with 232 healthy subjects. Heterozygosity for the G20210A allele was present in 4.3% of VTE cases and in 3.4% of controls, indicating a marginal increase of VTE risk in carriers of the allele (odds ratio: 1.26; 95% CI 0.4-3.9). However, the VTE risk was substantially higher in subjects with idiopathic VTE before age 45 or with recurrent, idiopathic VTE (odds ratio: 2.8; 95% CI 0.6-13.8) or in subjects with a family history of VTE (odds ratio: 7.6; 95% CI 1.8-32.8). Accordingly, our results suggest that the G20210A allele associates with VTE only in selected cases, and that screening for this genetic variant is not warranted for all patients with VTE.
Similar articles
-
Combined effect of factor V Leiden and prothrombin 20210A on the risk of venous thromboembolism--pooled analysis of 8 case-control studies including 2310 cases and 3204 controls. Study Group for Pooled-Analysis in Venous Thromboembolism.Thromb Haemost. 2001 Sep;86(3):809-16. Thromb Haemost. 2001. PMID: 11583312
-
Phenotypic APC resistance in carriers of the A20210 prothrombin mutation is associated with an increased risk of venous thrombosis.Thromb Haemost. 2001 Sep;86(3):804-8. Thromb Haemost. 2001. PMID: 11583311
-
Type and location of venous thromboembolism in carriers of Factor V Leiden or prothrombin G20210A mutation versus patients with no mutation.Clin Appl Thromb Hemost. 2010 Feb;16(1):66-70. doi: 10.1177/1076029608320721. Epub 2008 Sep 15. Clin Appl Thromb Hemost. 2010. PMID: 18796457
-
Interaction between hyperhomocysteinemia and inherited thrombophilic factors in venous thromboembolism.Semin Thromb Hemost. 2000;26(3):305-11. doi: 10.1055/s-2000-8473. Semin Thromb Hemost. 2000. PMID: 11011848 Review.
-
Thrombophilia as a multigenic disease.Haematologica. 1999 Jan;84(1):59-70. Haematologica. 1999. PMID: 10091393 Review.
Cited by
-
Progress in the research on venous thromboembolism.J Huazhong Univ Sci Technolog Med Sci. 2017 Dec;37(6):811-815. doi: 10.1007/s11596-017-1811-z. Epub 2017 Dec 21. J Huazhong Univ Sci Technolog Med Sci. 2017. PMID: 29270736 Review.
-
Venous thromboembolism risk in adults with hereditary thrombophilia: a systematic review and meta-analysis.Ann Hematol. 2024 Oct;103(10):4285-4294. doi: 10.1007/s00277-024-05926-2. Epub 2024 Aug 21. Ann Hematol. 2024. PMID: 39167180 Free PMC article.
-
Pediatric Thromboembolism in Japan.Indian J Pediatr. 2016 Oct;83(10):1077-81. doi: 10.1007/s12098-016-2094-2. Epub 2016 Apr 7. Indian J Pediatr. 2016. PMID: 27053184
-
Epidemiology of Prothrombin G20210A Mutation in the Mediterranean Region.Mediterr J Hematol Infect Dis. 2011;3(1):e2011054. doi: 10.4084/MJHID.2011.054. Epub 2011 Nov 28. Mediterr J Hematol Infect Dis. 2011. PMID: 22220251 Free PMC article.