Additional genetic risk factors for venous thromboembolism in carriers of the factor V Leiden mutation.

作者: Alberto Tosetto , Francesco Rodeghiero , Ida Martinelli , Valerio De Stefano , Edoardo Missiaglia

DOI: 10.1046/J.1365-2141.1998.01028.X

关键词:

摘要: Only a minority of subjects with factor V (FV) Leiden mutation develop venous thromboembolism (VTE), suggesting that additional genetic risk factors may be present in symptomatic carriers. We screened 157 unrelated carriers the FV first episode VTE and 291 asymptomatic for presence two frequent mutations, i.e. G20210A prothrombin gene C677T methylenetetrahydrofolate reductase gene. Carriers other inherited or acquired thrombophilia-associated abnormalities were excluded from analysis. Heterozygotes more prevalent among than (10.8% v 2.7%, P < 0.0001); homozygotes also (21.6% 14.4%, P = 0.05). Factor who had during oral contraceptive intake frequently (14.3%, P = 0.03). These results further support idea interaction circumstantial factors, an accurate search such is required to identify at risk.

参考文章(32)
M Makris, F E Preston, N J Beauchamp, P C Cooper, M E Daly, K K Hampton, P Bayliss, I R Peake, G J Miller, Co-inheritance of the 20210A allele of the prothrombin gene increases the risk of thrombosis in subjects with familial thrombophilia. Thrombosis and Haemostasis. ,vol. 78, pp. 1426- 1429 ,(1997) , 10.1055/S-0038-1665427
Paula M von Zuben, Luiz C Chiaparini, Joyce M Annichino-Bizzacchi, Fernando F Costa, Valder R Arruda, The mutation Ala677-->Val in the methylene tetrahydrofolate reductase gene: a risk factor for arterial disease and venous thrombosis. Thrombosis and Haemostasis. ,vol. 77, pp. 818- 821 ,(1997) , 10.1055/S-0038-1656059
Andreas Hillarp, Bengt Zӧller, Peter J Svensson, Bjӧrn Dahlbäck, The 20210 A allele of the prothrombin gene is a common risk factor among Swedish outpatients with verified deep venous thrombosis. Thrombosis and Haemostasis. ,vol. 78, pp. 990- 992 ,(1997) , 10.1055/S-0038-1657674
S. Ehrenforth, G. Ludwig, S. Klinke, M. Krause, I. Scharrer, U. Nowak-Göttl, The Prothrombin 20210 A Allele Is Frequently Coinherited in Young Carriers of the Factor V Arg 506 to Gln Mutation With Venous Thrombophilia Blood. ,vol. 91, pp. 2209- 2210 ,(1998) , 10.1182/BLOOD.V91.6.2209
Christopher T. Sempos, Harold A. Kahn, Statistical Methods in Epidemiology ,(1989)
Rogier M. Bertina, Bobby P. C. Koeleman, Ted Koster, Frits R. Rosendaal, Richard J. Dirven, Hans de Ronde, Pieter A. van der Velden, Pieter H. Reitsma, Mutation in blood coagulation factor V associated with resistance to activated protein C Nature. ,vol. 369, pp. 64- 67 ,(1994) , 10.1038/369064A0
A B Guttormsen, P M Ueland, I Nesthus, O Nygård, J Schneede, S E Vollset, H Refsum, Determinants and vitamin responsiveness of intermediate hyperhomocysteinemia (> or = 40 micromol/liter). The Hordaland Homocysteine Study. Journal of Clinical Investigation. ,vol. 98, pp. 2174- 2183 ,(1996) , 10.1172/JCI119024