title: The angiotensin-converting enzyme insertion/deletion polymorphism and serum levels of angiotensin-converting enzyme in venous thromboembolism. Data from a case control study.
abstract: The angiotensin-converting enzyme (ACE) has been suggested to affect blood coagulation and fibrinolysis. Results from literature on the role of the frequent insertion/deletion (I/D) polymorphism in the ACE gene in venous thromboembolism (VTE) are controversial. Only limited data on ACE serum levels inVTE exist. We determined the ACE I/D polymorphism by genotyping and ACE serum levels by an enzymatic assay in 100 high-risk patients with objectively confirmed recurrentVTE and at least one event of an unprovoked deep venous thrombosis or pulmonary embolism. One hundred twenty-five age- and sex-matched healthy individuals served as controls. ACE genotype frequencies were not significantly different between patients (DD: 26.0%, ID: 52.0%, II: 22.0%) and controls (DD: 29.6%, ID: 44.8%, II: 25.6%; p = 0.56). Neither individuals with ACE DD genotype nor those with ACE ID genotype had a higher risk for VTE in comparison to those with ACE II genotype (odds ratio and [95% confidence interval]: 1.0 [0.5-2.1] and 1.4 [0.7-2.6], respectively). Serum ACE levels (U/l) did not differ between patients (median = 25.25, 25th -75th percentile: 20.20-33.70) and controls (24.20, 17.85-34.50, p = 0.49). In the total population involved in the study the ACE DD genotype (n = 63: 36.00 [26.40-43.00]) was associated with higher ACE levels than the ACE ID genotype (n = 108: 24.10 [19.80-31.48], p < 0.001) and the ACE II genotype (n = 54: 19.35 [15.00-22.95], p < 0.001). In conclusion, we found a significant association of the ACE I/D polymorphism with ACE serum levels. However, neither the serum levels nor the I/D genotype were associated with VTE.
authors.affiliation: Division of Haematology and Haemostaseology, Department of Internal Medicine I, Medical University Vienna, Waehringer Guertel 18-20, A-1090 Vienna, Austria.
authors.forename: Cihan
authors.initials: C
authors.lastname: Ay
authors.forename: Peter
authors.initials: P
authors.lastname: Bencur
authors.forename: Rainer
authors.initials: R
authors.lastname: Vormittag
authors.forename: Thomas
authors.initials: T
authors.lastname: Sailer
authors.forename: Christof
authors.initials: C
authors.lastname: Jungbauer
authors.forename: Thomas
authors.initials: T
authors.lastname: Vukovich
authors.forename: Christine
authors.initials: C
authors.lastname: Mannhalter
authors.forename: Ingrid
authors.initials: I
authors.lastname: Pabinger
mesh_terms: D000017:ABO Blood-Group System; D000328:Adult; D000368:Aged; D016022:Case-Control Studies; D005260:Female; D017353:Gene Deletion; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D007703:Peptidyl-Dipeptidase A / Q000235:genetics*; D011110:Polymorphism, Genetic; D011655:Pulmonary Embolism / Q000235:genetics; D054556:Venous Thromboembolism / Q000235:genetics*; D020246:Venous Thrombosis / Q000235:genetics
chemical_list: D000017:ABO Blood-Group System; D007703:Peptidyl-Dipeptidase A