title: Impact of hemostatic gene single point mutations in patients with non-diabetic coronary artery disease.
abstract: Single point mutations in the genes coding for hemostatic factors were shown to be major inherited predisposing factors for venous thromboembolism. However, their contribution in the development of non-diabetic coronary artery disease [nDCAD] remains controversial. Angiographically demonstrated nDCAD patients (n = 86) and healthy controls (n = 90) were included in the study. Genotype analysis of hemostatic gene polymorphisms were assessed by using CVD strip assay, based on allele specific oligonucleotide probes. The carrier frequency of factor V (FV) H1299R, prothrombin G20210A, glycoprotein (Gp) IIIa L33P, plasminogen activator inhibitor-I (PAI-1) 4G/5G, 4G/4G, 5G/5G, methylenetetrahydrofolate reductase (MTHFR) A1298C and beta-fibrinogen -455 G > A were similar between patients and controls. In contrast, frequency of FV Leiden was significantly higher among patients (12.5%) than controls (5%, OR: 7.94; 95%CI: 1.9-49.6) and FXIII V34L was significantly lower among patients (23.7%) than controls (40%, OR: 0.24; 95%CI: 0.1-0.89). In addition, the frequency of the MTHFR C677T polymorphism was 32.5% among patients compared with 42.5% in controls, of which the T/T genotype was significantly lower among patients (5%) than controls (17.5%, OR: 0.06; 95%CI: 0.01-0.58). No difference was observed in prevalence of prothrombin G20210A, FV H1299R, Gp IIIa L33P, PAI-1 4G5G, MTHFR A1298C, beta fibrinogen 455 G > A mutations between patients and controls. However, lower frequency of FXIII Val34Leu and MTHFR C677T polymorphisms may decrease, while FV Leiden polymorphism may increase development of nDCAD.
authors.affiliation: Department of Biochemistry, Celal Bayar Medical University, Manisa, Turkey. ahmetvar@hotmail.com
authors.forename: Ahmet
authors.initials: A
authors.lastname: Var
authors.forename: Ozan
authors.initials: O
authors.lastname: Utük
authors.forename: Sinem
authors.initials: S
authors.lastname: Akçali
authors.forename: Tamer
authors.initials: T
authors.lastname: Sanlidağ
authors.forename: Bekir S
authors.initials: BS
authors.lastname: Uyanik
authors.forename: Gönül
authors.initials: G
authors.lastname: Dinç
mesh_terms: D000328:Adult; D000368:Aged; D001779:Blood Coagulation Factors / Q000235:genetics / Q000378:metabolism; D003324:Coronary Artery Disease / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006487:Hemostasis / Q000235:genetics; D006801:Humans; D016015:Logistic Models; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics / Q000378:metabolism; D008875:Middle Aged; D017354:Point Mutation; D015398:Signal Transduction
chemical_list: D001779:Blood Coagulation Factors; D042965:Methylenetetrahydrofolate Reductase (NADPH2)