Hageman factor C46T promoter gene polymorphism in patients with hypercortisolism.

Glucocorticoids are a group of hormones with a particularly significant effect on hemostasis. In hypercortisolemic patients increased concentrations of II, VIII, and von Willebrand factors were reported. Considerably fewer studies were concerned with factor XII (FXII). There are reports of decreased FXII concentrations in both venous and arterial thrombosis patients. Also, it was determined that FXII C46T promoter gene polymorphism leads to changes of its concentration. The aim of the study was to determine the C46T polymorphism of FXII promoter gene in hypercortisolemic patients. Thirty hypercortisolemic patients were enrolled in the study. Twenty-nine healthy individuals served as controls. Genomic DNA was isolated from peripheral blood leukocytes. To analyse the polymorphism, PCR products were digested by Hga I at 37°C for 23 h, subjected to 2% agarose gel, and stained with ethidium bromide. In all subjects FXII activity was determined using a clot-based method. All statistical calculations were performed using STATA 12.0 software. A p-value lower than 0.05 was considered statistically significant. Prevalence of FXII C46T polymorphism did not differ significantly between hypercortisolemic patients and controls. No correlation was found between FXII activity and its gene promoter polymorphism in the hypercortisolemic group; however, a clear trend was recorded toward higher FXII activities in 46C homozygotes, and lower in 46T homozygotes. Mean FXII activities did not differ significantly between hypercortisolemic patients and the control group. It seems that in hypercortisolemic patients no significant disorders are present concerning FXII concentrations due to the C46T polymorphism of its gene promoter.

Homocysteine and alpha-1 antitrypsin concentration in patients with subclinical hypercortisolemia.

PURPOSE: Glucocorticoids have particularly strong impact on the thromboembolic complications. A factor which increases the risk of thrombosis is hyperhomocysteinemia, observed in patients with hypercortisolemia. Proinflammatory factors also affect the haemostatic balance. There has been an extensive research which estimates hemostatic system in patients with Cushing's syndrome. Undoubtedly, much fewer publications are available on thromboembolic complications in patients with Subclinical Cushing's Syndrome (SCS). The purpose of this study was to estimate of homocysteine (HCY) and alpha-1 antitrypsin (α1ATp) concentrations in patients with SCS. MATERIALS AND METHODS: We studied 35 patients (56.0 ± 15.0 years) with SCS and 33 healthy volunteers (53.3 ± 17.7 years). In all subjects the analysis of HCY and α1ATp concentration in serum was determined with an immunonephelometric method. P-values below 0.05 were considered statistically significant. RESULTS: A comparison of HCY and α1ATp mean concentrations in patients with SCS and healthy representatives indicated statistically higher values of both analysed parameters in the sera of patients than in the healthy controls (p values were 0.018 and 0.008, respectively). In the patients with SCS a negative correlation between α1ATp and cortisol concentration in overnight dexamethasone test was found (p=0.017, R=-0.40). We did not reveal any statistically significant correlation between the concentrations of HCY and α1ATp, and coagulation parameters such as INR, APTT, fibrinogen concentration in patients with SCS. CONCLUSIONS: On the basis of the obtained results, a slight increase in the concentration of homocysteine and α1ATp is observed in patients with SCS, which may influence vascular complications.