Hageman Factor C46T Promoter Gene Polymorphism in Patients with Hypercortisolism

Abstract

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.

Expression levels and genetic polymorphisms of interleukin-2 and interleukin-10 as biomarkers of Graves’ disease

“…Alterations in gene expression levels frequently result from alterations in gene promoter activities ( 21 ). The RFLP results of the present study indicated that an increased number of GG SNPs in the GD group was identified in the −330 locus of the IL-2 promoter and the −1082 locus of the IL-10 promoter.…”

Influence of Genetic polymorphism of IL-2 and IL-6 on susceptibility to Helicobacter pylori infection and prognosis of Gastroduodenal Diseases

“…Many studies considered that having the IL-2-330 GG and 114 TT genotype increases the risk of a variety of illnesses, including B-Cell Non-Hodgkin Lymphoma [27] and Gastric cancer [28,29]. Changes in gene promoter activity usually cause changes in gene expression levels, and the IL-2 gene that is clarified by its impact on cytokine [30]. Overall, the current data imply that genetic variants in the IL-6 and IL-2 genes are biologically relevant in the development of H. pylori-induced gastro-duodenal illness.…”

Ocena funkcji płytek krwi u pacjentów z endogenną hiperkortyzolemią

“…Patients with cortisol concentrations between 50 and 140 nmol/L in this test also had to have met at least one of the following criteria: abnormal serum circadian cortisol secretion, decreased morning ACTH concentration (£ 10 pg/mL), and/or increased 24-hour free cortisol urinary excretion. These diagnostic criteria were applied to our patients [23]. Moreover, in all SCS patients cortisol was not fully suppressed (> 50 nmol/L) in the two-day low-dose dexamethasone test (0.5 mg every 6 hours).…”