Related Experiment Video
Updated: May 1, 2026

A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging
Published on: July 14, 2016
Hageman factor C46T promoter gene polymorphism in patients with hypercortisolism
R Świątkowska-Stodulska1, A Kitowska2, A Skibowska-Bielińska3
1Department of Endocrinology and Internal Medicine, Medical University of Gdańsk, Gdańsk, Poland.
This study found no significant difference in Factor XII (FXII) gene polymorphism between hypercortisolemic patients and controls. FXII activity was not directly correlated with this polymorphism in hypercortisolemic individuals.
Area of Science:
- Endocrinology
- Hematology
- Genetics
Background:
- Glucocorticoids significantly impact hemostasis, with known effects on coagulation factors II, VIII, and von Willebrand factor.
- Factor XII (FXII) concentrations have been inconsistently reported in thrombosis patients, with some studies showing decreases.
- FXII C46T promoter gene polymorphism is linked to variations in FXII concentration.
Purpose of the Study:
- To investigate the prevalence of FXII C46T promoter gene polymorphism in hypercortisolemic patients.
- To assess the relationship between FXII activity and its C46T promoter gene polymorphism in this patient group.
Main Methods:
- Genomic DNA was isolated from leukocytes of 30 hypercortisolemic patients and 29 healthy controls.
- PCR amplification followed by Hga I digestion and agarose gel electrophoresis was used to analyze FXII C46T polymorphism.
- Clot-based assays measured FXII activity in all participants.
Main Results:
- The prevalence of FXII C46T polymorphism did not significantly differ between hypercortisolemic patients and controls.
- No significant correlation was observed between FXII activity and FXII C46T polymorphism in hypercortisolemic patients.
- A trend suggested higher FXII activity in 46C homozygotes and lower activity in 46T homozygotes, though not statistically significant.
Conclusions:
- Hypercortisolemic patients do not exhibit significant alterations in Factor XII concentrations attributable to the C46T promoter gene polymorphism.
- The C46T polymorphism of the FXII gene does not appear to be a major determinant of FXII activity in hypercortisolemia.
More Related Videos
07:26High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment
Published on: July 18, 2017
03:45Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
Related Concept Videos
Cushing Syndrome II: Pathophysiology
Cushing Syndrome I: Introduction
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
Adrenal Gland Disorders
Adrenal insufficiency, characterized by insufficient cortisol and aldosterone production, leads to conditions like Addison's disease. This disorder, affecting the adrenal cortex, exhibits symptoms such as skin bronzing, dehydration, low blood pressure, fatigue, and weight loss. Congenital adrenal hyperplasia, a genetic ailment causing...
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase
Human Genetics
The complex relationship between genetics and psychology is observable through common biological components such...