Cardiovascular risk assessment by coronary artery calcium score in subjects with maturity-onset diabetes of the young caused by glucokinase mutations
Abstract
Aims Maturity-Onset Diabetes of the Young (MODY) caused by glucokinase (GCK) mutations is characterized by lifelong mild non-progressive hyperglycemia, with low frequency of coronary artery disease (CAD) compared to other types of diabetes. The aim of this study is to estimate cardiovascular risk by coronary artery calcification (CAC) score in this group.Materials and methods Twenty-nine GCK-MODY cases, 26 normoglycemic controls (recruited among non-affected relatives/spouses of GCK mutation carriers), and 24 unrelated individuals with type 2 diabetes were studied. Patients underwent CAC score evaluation by computed tomography and were classified by Agatston score ≥ or < 10. Framingham Risk scores of CAD in 10 years were calculated.Results Median [interquartile range] CAC score in GCK-MODY was 0 [0,0], similar to controls (0 [0,0], P = 0.49), but lower than type 2 diabetes (39 [0, 126], P = 2.6 × 10-5). A CAC score ≥ 10 was seen in 6.9% of the GCK group, 7.7% of Controls (P = 1.0), and 54.2% of individuals with type 2 diabetes (P = 0.0006). Median Framingham risk score was lower in GCK than type 2 diabetes (3% vs. 13%, P = 4 × 10-6), but similar to controls (3% vs. 4%, P = 0.66).Conclusions CAC score in GCK-MODY is similar to control individuals from the same family and/or household and is significantly lower than type 2 diabetes. Besides demonstrating low risk of CAD in GCK-MODY, these findings may contribute to understanding the specific effect of hyperglycemia in CAD.
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GCK-MODY has a lower risk of coronary artery disease compared with type 2 diabetes.
“GCK-MODY having a lower risk of coronary artery disease compared with type 2 diabetes (25)”
From Obstructive Sleep Apnea, Resting Heart Rate, and Glycemic Variability in Adults With Maturity-Onset Diabetes of the Young (2026) · cites this paper as [25]
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- Authors
- Franco, L. F., Szarf, G., Dotto, R. P., Dib, S. A., Moises, R. S., Giuffrida, F. M. A., & Reis, A. F.
- Affiliations
- Universidade Federal de São Paulo (BR)
- Universidade do Estado da Bahia (BR)
- Corresponding author
- Giuffrida, Fernando M.A.
- Venue
- Diabetes Research and Clinical Practice
- Publisher
- Elsevier BV
- Published
- 2021-06
- Volume
- 176
- Pages
- 108867
- ISSN
- 0168-8227 (ISSN-L)
- OpenAlex
- W3164949314
- Cited by
- 9
- References
- 45
- Citations by year
- 2026: 1 · 2025: 1 · 2024: 2 · 2023: 2 · 2022: 2 · 2021: 1
- FWCI
- 0.92
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- Locations
- Diabetes Research and Clinical Practice (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Conselho Nacional de Desenvolvimento Científico e Tecnológico
- Fundação de Amparo à Pesquisa do Estado de São Paulo
- Topics
- Health Sciences › Medicine › Radiology, Nuclear Medicine and Imaging › Cardiac Imaging and Diagnostics
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Diabetes, Cardiovascular Risks, and Lipoproteins
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Diabetes and associated disorders
- Keywords
- maturity-onset diabetes of the young, glucokinase mutations, coronary artery calcification, coronary artery disease, cardiovascular risk, type 2 diabetes, hyperglycemia, Framingham risk score, Agatston score
- MeSH terms
- Heart Disease Risk Factors, Adult, Aged, Calcium, Cardiovascular Diseases, Coronary Vessels, Diabetes Mellitus, Type 2, Diabetic Angiopathies, Female, Glucokinase, Humans, Hyperglycemia, Male, Middle Aged, Mutation, Prognosis, Risk Factors, Case-Control Studies, Risk Assessment
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