Abstract
Several genetic variants are currently identified as risk factors for venous and arterial thrombosis (deep venous thrombosis, myocardial infarction and stroke). Activated protein C resistance due to the factor V Leiden (FVL) and the 20210 G>A mutation in the factor II (FII, Prothrombin) gene are well-established causes of thrombophilia. Concerning the risk of myocardial infarction and stroke the results are different: There are studies reporting positive (Ma et al. 1996; Montaruli et al. 1996; Nabavi et al. 1998; Simioni et al. 1995; Arruda et al. 1997; Doggen et al. 1998; Rosendaal et al. 1997; Watzke et al. 1997; Corral et al. 1997) or neutral influences (Ardissino et al. 1996; Sanchez et al. 1997; Schröder et al. 1999; Corral et al. 1997; Kapur et al. 1997; Eikelboom et al. 1998; Ferraresi et al. 1997; Prohaska et al. 1999). The 677C>T mutation in the methylenetetrahydrofolate reductase gene (677C>T MTHFR), which caused a mild hyperhomocysteinemia is considered as a risk factor for coronary heart disease (Kluijtmans et al. 1996; Morita et al. 1997), venous thrombosis and stroke (Margaglione et al. 1998; Kluijtmans et al. 1999), but the results are controversial.
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Herrmann, F.H. et al. (2001). Prevalence of Common Mutations and Polymorphisms of the Genes of FII, FV, FVII, FXII, FXIII, MTHFR and ACE — Identified As Risk Factors for Venous and Arterial Thrombosis — in Germany and Different Ethnic Groups (Indians, Blacks) of Costa Rica. In: Scharrer, I., Schramm, W. (eds) 30th Hemophilia Symposium Hamburg 1999. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-18240-2_34
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