PT - JOURNAL ARTICLE AU - Elif Kupeli AU - Hasibe Verdi AU - Abdullah Simsek AU - Fatma Belgin Atac AU - Fusun Oner Eyuboglu TI - Genetic mutations in Turkish population with pulmonary embolism and deep venous thrombosis DP - 2011 Sep 01 TA - European Respiratory Journal PG - p2344 VI - 38 IP - Suppl 55 4099 - http://erj.ersjournals.com/content/38/Suppl_55/p2344.short 4100 - http://erj.ersjournals.com/content/38/Suppl_55/p2344.full SO - Eur Respir J2011 Sep 01; 38 AB - Venous thromboembolism (VTE) is an universal health hazard throughout the world. Pulmonary embolism (PE) along with deep venous thrombosis (DVT) is a major clinical manifestation of VTE and inherited and acquired risk factors increase the risk. We aimed to evaluate the relationship between factor V (G1691A, A1090G, and A1299G), prothrombin (PT G20210A), methylenetetrahydrofolate reductase (MTHFR C677T) mutations, plasminogen activator inhibitor 1 (PAI-1 -675) polymorphism, and VTE in Turkish population. Between years 2005-2009, 80 Turkish patients diagnosed with PE and PE+DVT and 104 controls at our institution and agreeing to participate, were consecutively recruited in the study. Heterozygous factor V Leiden (FVL) mutation was significantly higher among patients (p =.04) with allele frequency of 6.3% (p =.01). Heterozygous PT G20210A mutation was also significantly higher among patients (p=.001) with allele frequency of 6.9% (p =.003). MTHFR 677TT genotype was significantly higher in patients (p =.009) with allele frequency of 23.8% (p =.005). No significant difference was found in FV A1090G and FV A1299G mutation rate as well as PAI-1 genotypes and their allele frequencies (p >.05). Thus, frequencies of FV G1691A, PT G20210A, and MTHFR C677T mutations are higher in patients with VTE. FV A1090G, FV A1299G mutations, and PAI-1 gene polymorphisms may not be a risk factor for VTE in Turkish population. However, further follow-up evaluation in larger, multi-center series is required to determine the role of these genetic mutations as a risk factor for VTE in Turkish population.