ArticleNature metabolism2020
Pathogenic variants in actionable MODY genes are associated with type 2 diabetes.
Article in Nature metabolism, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers, 1 of them a synthesis that pooled it.
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Who cites it
46 citing papers in PubMed, 1 synthesis or guideline pooled it, 69 citations in OpenAlex.
- Pathogenic monoallelic variants in GLIS3 increase type 2 diabetes risk and identify a subgroup of patients sensitive to sulfonylureas.Diabetologia · 2024Pooled it
- Insights from maturity-onset diabetes of the young into impaired insulin secretion in type 2 diabetes.Endocrine journal · 2026Review
- Article
- Population Prevalence, Penetrance, and Mortality for Genetically Confirmed MODY.The Journal of clinical endocrinology and metabolism · 2026Article
- MODY Is Prevalent in Later-Onset Diabetes and Has Potential for Targeted Therapy but Is Challenging to Identify.Diabetes · 2026Article
- Novel Phenotype due toEuropean journal of case reports in internal medicine · 2026Article
- Polygenic score from MODY genes is associated with type 1 diabetes and disease characteristics.Acta diabetologica · 2025Article
- Polygenic determinants of monogenic diabetes.Nature metabolism · 2025Article
- Paeoniflorin: a review of its pharmacology, pharmacokinetics and toxicity in diabetes.Frontiers in pharmacology · 2025Review
- Actionability of Genetic Variants in Diabetes: Core Aspects and Applied Examples.Diabetes spectrum : a publication of the American Diabetes Association · 2025Article
- Underestimated risk of secondary complications in pathogenic and glucose-elevating GCK variant carriers with type 2 diabetes.Communications medicine · 2024Article
- Monogenic diabetes.Diabetology international · 2024Review
- Short-Term Statin Therapy Induces Hepatic Insulin Resistance Through HNF4α/PAQR9/PPM1α Axis Regulated AKT Phosphorylation.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2024Article
- The Elusive Nature of ABCC8-related Maturity-Onset Diabetes of the Young (ABCC8-MODY). A Review of the Literature and Case Discussion.Current diabetes reports · 2024Review
- Article
- Functional genetics reveals the contribution of delta opioid receptor to type 2 diabetes and beta-cell function.Nature communications · 2024Article
- Monogenic diabetes in children: An underdiagnosed and poorly managed clinical dilemma.World journal of diabetes · 2024Article
- Stress Induced Hyperglycemia in Early Childhood as a Clue for the Diagnosis of NEUROD1-MODYJournal of clinical research in pediatric endocrinology · 2024Article
- A synonymousMolecular genetics and metabolism reports · 2024Article
- Whole-exome sequencing in familial type 2 diabetes identifies an atypical missense variant in the RyR2 gene.Frontiers in endocrinology · 2024Article
Corrections and comments
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Authors and funding
27 authors at 6 institutions in 4 countries.
Funding
Abstract
Genome-wide association studies have identified 240 independent loci associated with type 2 diabetes (T2D) risk, but this knowledge has not advanced precision medicine. In contrast, the genetic diagnosis of monogenic forms of diabetes (including maturity-onset diabetes of the young (MODY)) are textbook cases of genomic medicine. Recent studies trying to bridge the gap between monogenic diabetes and T2D have been inconclusive. Here, we show a significant burden of pathogenic variants in genes linked with monogenic diabetes among people with common T2D, particularly in actionable MODY genes, thus implying that there should be a substantial change in care for carriers with T2D. We show that, among 74,629 individuals, this burden is probably driven by the pathogenic variants found in GCK, and to a lesser extent in HNF4A, KCNJ11, HNF1B and ABCC8. The carriers with T2D are leaner, which evidences a functional metabolic effect of these mutations. Pathogenic variants in actionable MODY genes are more frequent than was previously expected in common T2D. These results open avenues for future interventions assessing the clinical interest of these pathogenic mutations in precision medicine.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.