Thrombophilia is considered to be associated with both genetic and non-genetic factors. Acquired mutations in blood coagulation factor (Factor V, Factor II) genes and genes coding for enzymes involved in the homocysteine metabolism (MTHFR) are reported to play a role in the development of venous thrombosis. The association of mutations in these genes and others such as ACE and PON1 in the development of coronary artery disease (CAD) has also been evaluated by other groups.
Erçelen NÖ, Öztürk B, Cömert H, Diken M, Gültomruk M, et al. (2014) Allelic Frequencies of Mutations in Blood Coagulation Factor Genes (Factor V, Factor II) and Methylenetetrahydrofolate Reductase (MTHFR) in 201 Turkish Patients with Venous Thrombosis Complications. J Mol Genet Med 7:93. doi: 10.4172/1747-0862.1000093