Insights on pathogenesis of type 2 diabetes from MODY genetics
Abstract
Maturity-onset diabetes of the young (MODY) is a type of non-insulin-dependent diabetes mellitus caused by rare autosomal-dominant mutations. MODY genes play key biochemical roles in the pancreatic beta cell; therefore, common variants of MODY genes are excellent candidate genes for type 2 diabetes. We review recent studies that suggest that common MODY gene variation contributes modestly to the heritability of type 2 diabetes.
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Numerous chronic conditions have familial analogs caused by rare variants, including atherosclerosis through hypercholesterolemia, MODY, and BRCA1/BRCA2 breast cancer susceptibility.
“well-known examples include rare variants promoting atherosclerosis through hypercholesterolemia39, the lesions responsible for Maturity Onset Diabetes of the Young (MODY)40, and the BRCA1 and BRCA2 breast cancer susceptibility mutations41.”
From Rare and common variants: twenty arguments (2012) · cites this paper as [40]
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- Authors
- Weedon, M. N., & Frayling, T. M.
- Affiliations
- Peninsula College of Medicine and Dentistry (GB)
- Corresponding author
- Weedon, Michael N.
- Venue
- Current Diabetes Reports
- Published
- 2007-04-27
- Volume
- 7
- Issue
- 2
- Pages
- 131-138
- ISSN
- 1534-4827 (ISSN-L)
- 1539-0829
- OpenAlex
- W2146715503
- Cited by
- 13
- References
- 73
- Citations by year
- 2022: 1 · 2021: 1 · 2015: 1 · 2014: 1 · 2012: 1
- FWCI
- 0.35
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Current Diabetes Reports (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Wellcome Trust
- Topics
- Health Sciences › Medicine › Surgery › Pancreatic function and diabetes
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Diabetes and associated disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- maturity-onset diabetes of the young, type 2 diabetes pathogenesis, MODY genes, autosomal dominant mutations, pancreatic beta cells, common genetic variants, candidate genes
- MeSH terms
- Diabetes Mellitus, Type 1, Diabetes Mellitus, Type 2, Glucokinase, Humans, Nerve Tissue Proteins, Trans-Activators, Homeodomain Proteins, Hepatocyte Nuclear Factors, Basic Helix-Loop-Helix Transcription Factors, Basic Helix-Loop-Helix Proteins
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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