Literature DB >> 12551828

Different circumstances of the first venous thromboembolism among younger or older heterozygous carriers of the G20210A polymorphism in the prothrombin gene.

Valerio De Stefano1, Elena Rossi, Katia Paciaroni, Andria D'Orazio, Gregorio Cina, Elsa Marchitelli, Rita Pepe, Giuseppe Leone.   

Abstract

BACKGROUND AND OBJECTIVES: The G20210A polymorphism in the prothrombin gene is a common cause of inherited thrombophilia. Scarce information is available about the circumstances of the heralding thrombotic manifestation at different ages. The aim of this study was to determine the risk of spontaneous or secondary venous thromboembolism (VTE) among younger and older carriers of the G20210A prothrombin polymorphism. DESIGN AND METHODS: We performed a case-control study, investigating 650 patients with a first objectively documented deep venous thrombosis of the legs or pulmonary embolism and 703 individuals with no history of vascular disease. In all of them we carried out laboratory screening for antithrombin III, protein C and protein S deficiencies, and for the presence of the factor V Leiden and the G20210A prothrombin polymorphisms.
RESULTS: After adjustment for other inherited causes of thrombophilia (deficiency of antithrombin III, protein C or S, factor V Leiden) the overall risk for VTE associated with the prothrombin polymorphism was 3.4 times higher than in the controls (95% CI, 2.0 to 5.8). Stratification according to the age and to the circumstances of the first event revealed an increased risk of spontaneous VTE only among the patients older than 45 years in comparison with age-matched controls (odds ratio 4.4, 95% CI 1.8 to 10.6); among the younger individuals the risk was increased for secondary VTE (odds ratio 4.8, 95% CI, 2.3 to 9.8) but not for spontaneous VTE. INTERPRETATION AND
CONCLUSIONS: The clinical penetrance of the thrombotic tendency associated with the G20210A prothrombin polymorphism is more expressed in the presence of a circumstantial risk factor (oral contraceptives, pregnancy, surgery, trauma) and in the presence of older age, which acts as an additional circumstantial risk factor. Accordingly, such situations should not discourage from carrying out laboratory screening.

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Year:  2003        PMID: 12551828

Source DB:  PubMed          Journal:  Haematologica        ISSN: 0390-6078            Impact factor:   9.941


  7 in total

1.  A case control study on the contribution of factor V-Leiden, prothrombin G20210A, and MTHFR C677T mutations to the genetic susceptibility of deep venous thrombosis.

Authors:  Wassim Y Almawi; Hala Tamim; Raghid Kreidy; Georgina Timson; Elias Rahal; Malak Nabulsi; Ramzi R Finan; Noha Irani-Hakime
Journal:  J Thromb Thrombolysis       Date:  2005-06       Impact factor: 2.300

2.  microRNAs regulate nitric oxide release from endothelial cells by targeting NOS3.

Authors:  Ji-Zheng Qin; Shao-Jie Wang; Chun Xia
Journal:  J Thromb Thrombolysis       Date:  2018-10       Impact factor: 2.300

Review 3.  Inherited risk factors for venous thromboembolism.

Authors:  Ida Martinelli; Valerio De Stefano; Pier M Mannucci
Journal:  Nat Rev Cardiol       Date:  2014-01-14       Impact factor: 32.419

4.  Increased Factor V Leiden frequency is associated with venous thrombotic events among young Brazilian patients.

Authors:  Adriano de Paula Sabino; Daniela Amorim Melgaço Guimarães; Daniel Dias Ribeiro; Sabrina Guimarães Paiva; Luci Maria Sant'Ana Dusse; Maria das Graças Carvalho; Ana Paula Fernandes
Journal:  J Thromb Thrombolysis       Date:  2007-03-31       Impact factor: 2.300

5.  Risk of venous thromboembolism associated with single and combined effects of Factor V Leiden, Prothrombin 20210A and Methylenetethraydrofolate reductase C677T: a meta-analysis involving over 11,000 cases and 21,000 controls.

Authors:  Benedetto Simone; Valerio De Stefano; Emanuele Leoncini; Jeppe Zacho; Ida Martinelli; Joseph Emmerich; Elena Rossi; Aaron R Folsom; Wassim Y Almawi; Pierre Y Scarabin; Martin den Heijer; Mary Cushman; Silvana Penco; Amparo Vaya; Pantep Angchaisuksiri; Gulfer Okumus; Donato Gemmati; Simona Cima; Nejat Akar; Kivilcim I Oguzulgen; Véronique Ducros; Christoph Lichy; Consuelo Fernandez-Miranda; Andrzej Szczeklik; José A Nieto; Jose Domingo Torres; Véronique Le Cam-Duchez; Petar Ivanov; Carlos Cantu-Brito; Veronika M Shmeleva; Mojka Stegnar; Dotun Ogunyemi; Suhair S Eid; Nicola Nicolotti; Emma De Feo; Walter Ricciardi; Stefania Boccia
Journal:  Eur J Epidemiol       Date:  2013-07-31       Impact factor: 8.082

6.  An evaluation of candidate genes of inflammation and thrombosis in relation to the risk of venous thromboembolism: The Women's Genome Health Study.

Authors:  Robert Y L Zee; Robert J Glynn; Suzanne Cheng; Lori Steiner; Lynda Rose; Paul M Ridker
Journal:  Circ Cardiovasc Genet       Date:  2009-01-23

7.  Genetic polymorphism of NOS3 with susceptibility to deep vein thrombosis after orthopedic surgery: a case-control study in Chinese Han population.

Authors:  Jizheng Qin; Jin Dai; Zhihong Xu; Dongyang Chen; Jianghui Qin; Dongquan Shi; Huajian Teng; Qing Jiang
Journal:  PLoS One       Date:  2013-07-26       Impact factor: 3.240

  7 in total

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