title: Genetic mutations in Turkish population with pulmonary embolism and deep venous thrombosis.
abstract: Venous thromboembolism (VTE) is a universal health hazard. Inherited and acquired risk factors increase the risk of VTE. We evaluated 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. In all, 80 patients with VTE and 104 controls were included. 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.
authors.affiliation: Department of Pulmonary Diseases, Baskent University School of Medicine, Ankara, Turkey. elifkupeli@yahoo.com
authors.forename: Elif
authors.initials: E
authors.lastname: Kupeli
authors.forename: Hasibe
authors.initials: H
authors.lastname: Verdi
authors.forename: Abdullah
authors.initials: A
authors.lastname: Simsek
authors.forename: Fatma Belgin
authors.initials: FB
authors.lastname: Atac
authors.forename: Fusun Oner
authors.initials: FO
authors.lastname: Eyuboglu
mesh_terms: D000293:Adolescent; D000328:Adult; D016022:Case-Control Studies; D005165:Factor V / Q000235:genetics; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics; D008875:Middle Aged; D009154:Mutation; D017395:Plasminogen Activator Inhibitor 1 / Q000235:genetics; D020641:Polymorphism, Single Nucleotide; D011446:Prospective Studies; D011516:Prothrombin / Q000235:genetics; D011655:Pulmonary Embolism / Q000235:genetics*; D014421:Turkey; D020246:Venous Thrombosis / Q000235:genetics*; D055815:Young Adult
chemical_list: D017395:Plasminogen Activator Inhibitor 1; C051321:SERPINE1 protein, human; D005165:Factor V; D011516:Prothrombin; C573423:MTHFR protein, human; D042965:Methylenetetrahydrofolate Reductase (NADPH2)