Evaluation of Factor V G1691A, prothrombin G20210A, Factor XIII V34L, MTHFR A1298C, MTHFR C677T and PAI-1 4G/5G genotype frequencies of patients subjected to cardiovascular disease (CVD) panel in south-east region of Turkey

4709 Turkish patients with Cardiovascular Disease (CVD) were screened by Oztuzcu et al (2014) over a period of 3 years for the presence of 6 different gene polymorphisms relating to CV health, including Factor 5 Leiden, Prothrombin, Factor 8, MTHFR C677T, A1298C mutations and PAI-1. C677T homozygous and heterozygous mutations were found in 9.34% and 41.09% of patients respectively, with the A1298C homozygous and heterozygous mutations found in 13.78% and 44.94% of patients. Mutations in the PAI-1 gene were found to be of highest prevalence, with MTHFR A1298C and C677T second and third. Of all screened, no genetic mutation was observed in 1.95% of subjects. This research highlights how vital the screening of genetic mutations for the diagnosis and potential treatment of thrombophilia and CVD in this Turkish population.

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February 21, 2014