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Updated: Apr 19, 2026
A Methodological Approach to Non-invasive Assessments of Vascular Function and Morphology
Published on: February 7, 2015
Intima-media thickness and endothelial dysfunction in GCK and HNF1A-MODY patients
Magdalena Szopa1, Grzegorz Osmenda2, Grzegorz Wilk2
1Department of Metabolic DiseasesJagiellonian University Medical College, 15 Kopernika Street, Krakow 31-501, PolandUniversity HospitalKrakow, PolandTranslational Medicine LaboratoryDepartment of Internal MedicineDepartment of Clinical BiochemistryJagiellonian University Medical College, Krakow, PolandDepartment of PediatricsOncology, Hematology and Diabetology, Medical University of Lodz, Lodz, Poland Department of Metabolic DiseasesJagiellonian University Medical College, 15 Kopernika Street, Krakow 31-501, PolandUniversity HospitalKrakow, PolandTranslational Medicine LaboratoryDepartment of Internal MedicineDepartment of Clinical BiochemistryJagiellonian University Medical College, Krakow, PolandDepartment of PediatricsOncology, Hematology and Diabetology, Medical University of Lodz, Lodz, Poland.
Objective:
Mutations in the glucokinase (GCK) gene, along with hepatocyte nuclear factor 1A (HNF1A) gene mutations, are the most frequent cause of maturity-onset diabetes of the young (MODY). GCK-MODY patients are typically characterized by a moderate fasting hyperglycemia; however, little is known about atherosclerosis and intermediate-related phenotypes in these subjects.
Design:
To examine carotid artery intima-media thickness (IMT) and endothelial function assessed by brachial artery flow-mediated dilatation (FMD) in GCK gene mutations carriers and HNF1A-MODY.
Methods:
A total of 64 subjects with GCK gene mutations, and 52 HNF1A gene mutation carriers as well as 53 nondiabetic controls were examined. IMT and FMD were assessed by ultrasonography. Appropriate statistical tests were performed to assess differences between the groups, and multivariate linear regression was done for the association with IMT and FMD.
Results:
The clinical characteristics of all groups were similar with the mean age at examination of 35.1, 41.1, and 39.5 years for GCK, HNF1A and the control group respectively. The highest mean IMT value was in the HNF1A-MODY group: 7.0±1.4 mm, whereas it reached 6.3±1.4 mm in GCK mutation carriers and 6.3±1.3 mm in controls (P=0.008). After adjustment for possible clinical and biochemical cofounders, IMT remained higher in HNF1A-MODY patients as compared with GCK-MODY patients (P=0.02) and controls (P=0.0003). FMD was significantly lower in HNF1A (9.9±4.6%) and GCK-MODY (11.1±4.6%) patients in comparison with controls (13.9±4.7%; P=0.0001). After adjustment, FMD remained lower in HNF1A-MODY (P=0.0005) and GCK-MODY patients (P=0.01) as compared with controls.
Conclusions:
Both examined MODY groups demonstrated evidence of endothelial dysfunction. In addition, HNF1-MODY patients seem to be more prone to an early atherosclerotic phenotype.
