Association between large detectable clonal mosaicism and type 2 diabetes with vascular complications
Abstract
Large chromosomal clonal mosaic events (CMEs) have been suggested to be linked to aging and to predict cancer. Type 2 diabetes (T2D) has been conceptualized as an accelerated-aging disease and is associated with higher prevalence of cancers. Here we aimed to assess the association between T2D and CME occurrence in blood. We evaluated the presence of CMEs in 7,659 individuals (including 2,208 with T2D) using DNA arrays. A significant association between CME occurrence and T2D was found (odds ratio (OR) = 5.3; P = 5.1 × 10(-5)) and was stronger when we only considered non-obese individuals with T2D (OR = 5.6; P = 4.9 × 10(-5)). Notably, CME carriers with T2D had higher prevalence of vascular complications than non-carriers with T2D (71.4% versus 37.1%, respectively; P = 7.7 × 10(-4)). In CME carriers, we found an increase in the percentage of abnormal cells over 6 years (P = 8.60 × 10(-3)). In conclusion, given the increased risk of cancer in CME carriers, our results may have profound clinical implications in patients with severe T2D.
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Large structural variation, such as gains or losses of large segments of chromosomes, increases with age and has clinically meaningful associations.
“But large structural variation, such as gains or losses of large segments of chromosomes, also increases with age and has clinically meaningful associations 34–36.”
From Clonal hematopoiesis in human aging and disease (2019) · cites this paper as [34]
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“ARCH contributes to several age-related pathologic conditions, including atherosclerosis (2), cardiovascular disease (3), vascular complications (4), and increased risk for developing hematologic malignancies (5, 6).”
Background
- Authors
- Bonnefond, A., Skrobek, B., Lobbens, S., Eury, E., Thuillier, D., Cauchi, S., Lantieri, O., Balkau, B., Riboli, E., Marre, M., Charpentier, G., Yengo, L., & Froguel, P.
- Affiliations
- Centre National de la Recherche Scientifique (FR)
- Université Paris-Sud (FR)
- Inserm (FR)
- Centre Hospitalier Sud Francilien (FR)
- Corresponding author
- Froguel, Philippe
- ORCID
- Venue
- Nature Genetics
- Published
- 2013-07-14
- Volume
- 45
- Issue
- 9
- Pages
- 1040-1043
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W1971651222
- Cited by
- 139
- References
- 26
- Citations by year
- 2026: 7 · 2025: 11 · 2024: 11 · 2023: 20 · 2022: 13 · 2021: 19 · 2020: 7 · 2019: 18 · 2018: 6 · 2017: 6 · 2016: 7 · 2015: 5 · 2014: 7 · 2013: 2
- FWCI
- 2.46
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Centre National de la Recherche Scientifique
- European Regional Development Fund
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer Genomics and Diagnostics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- clonal mosaicism, chromosomal mosaicism, type 2 diabetes, vascular complications, accelerated aging, cancer risk, blood cells, abnormal cells, non-obese adults
- MeSH terms
- Aged, Chromosome Aberrations, Chromosome Mapping, Diabetes Mellitus, Type 2, Diabetic Angiopathies, Female, Humans, Male, Middle Aged, Mosaicism, Prospective Studies, Body Mass Index, Odds Ratio, Case-Control Studies, Genetic Association Studies
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