ArticleThe Journal of clinical endocrinology and metabolism2026
Population Prevalence, Penetrance, and Mortality for Genetically Confirmed MODY.
Article in The Journal of clinical endocrinology and metabolism, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers, 1 of them a synthesis that pooled it.
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Who cites it
7 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Treatment Options for Patients with Maturity-Onset Diabetes of the Young (MODY): A Systematic Review of Literature: 2026 Update.Diabetes therapy : research, treatment and education of diabetes and related disorders · 2026Pooled it
- Insights from maturity-onset diabetes of the young into impaired insulin secretion in type 2 diabetes.Endocrine journal · 2026Review
- Insights into the genetic aetiology of diabetes in Africa.EBioMedicine · 2026Review
- Population Prevalence, Penetrance, and Mortality for Genetically Confirmed MODY.The Journal of clinical endocrinology and metabolism · 2026Article
- The Genetic Landscape of Diabetes Mellitus: Lessons from Monogenic and Polygenic Forms.Life (Basel, Switzerland) · 2026Review
- RFX6 maturity-onset diabetes of the young: clinical considerations and novel use of tirzepatide.Endocrinology, diabetes & metabolism case reports · 2026Article
- Why all MODY variants in transcription factor genes are dominantly inherited.Frontiers in genetics · 2025Article
Corrections and comments
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Authors and funding
8 authors.
Funding
Abstract
contextDiagnosing maturity-onset diabetes of the young (MODY) is clinically important for treatment and prognosis. However, phenotype-based studies of MODY are prone to ascertainment bias, limiting accurate estimates of its population prevalence and phenotypic spectrum.
objectiveTo apply a genotype-first approach to determine the population prevalence, penetrance, and all-cause mortality associated with MODY.
methodsWe analyzed exome sequencing and clinical data from 454 275 UK Biobank participants to identify pathogenic variants in 10 established MODY genes. We assessed variant prevalence, age-dependent diabetes penetrance, and all-cause mortality by genetic etiology over a mean follow-up of 13.4 years.
resultsPathogenic MODY variants were present in 1 in 1052 individuals and accounted for 1.48% of diabetes cases diagnosed before age 40. GCK variants were the most frequent (1 in 2787), demonstrating high penetrance (mean HbA1c 8.8 mmol/mol higher; 94.5% with prediabetes or diabetes) but no significant association with all-cause mortality (P = .09). Variants in other MODY genes showed lower penetrance, with 12% of carriers developing diabetes by age 40 and 31.6% by age 60 and showed no increase in all-cause mortality (P = .89). Penetrance varied by genetic etiology, with HNF1A showing the highest penetrance and PDX1, NEUROD1, and RFX6 the lowest. Parental history of diabetes and polygenic risk for type 2 diabetes were important modifiers of penetrance (hazard ratios 2.54 and 1.52, respectively; P < 3.9 × 10-3).
conclusionThis large-scale genotype-first study provides novel insights into MODY in the population. These findings have broad implications for genetic counseling, personalized treatment strategies, and healthcare resource allocation.
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