ArticleDiabetes2017
Functional Investigations of HNF1A Identify Rare Variants as Risk Factors for Type 2 Diabetes in the General Population.
Article in Diabetes, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT04239586 (Switching From Insulin to Sulfonylurea in Childhood and Adult Diabetes Due to Variants in the HNF1A, HNF4A, or HNF1B Genes), which is not on this map. Cited by 51 papers, 3 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Switching From Insulin to Sulfonylurea in Childhood and Adult Diabetes Due to Variants in the HNF1A, HNF4A, or HNF1B Genes
Who cites it
51 citing papers in PubMed, 3 syntheses or guidelines pooled it, 68 citations in OpenAlex.
- Discovery and prioritization of variants and genes for kidney function in >1.2 million individuals.Nature communications · 2021Pooled it
- Associations between Genotype-Diet Interactions and Weight Loss-A Systematic Review.Nutrients · 2020Pooled it
- The CommonDiabetes · 2018Pooled it
- Digenic HNF1A and ABCC8 variants provide mechanistic insight into early-onset diabetes.The Journal of clinical endocrinology and metabolism · 2026Article
- HNF1B-MODY in the Norwegian MODY Registry and the Norwegian Childhood Diabetes Registry: Clinical Insights and Prevalence Informed by Genetic and Functional Evaluation.International journal of molecular sciences · 2026Article
- Insights from maturity-onset diabetes of the young into impaired insulin secretion in type 2 diabetes.Endocrine journal · 2026Review
- The conundrum in diagnosing Maturity-Onset Diabetes of the Young (MODY) in a large German pedigree with early-onset diabetes and a novel HNF1A variant.Molecular and cellular pediatrics · 2026Article
- Non-type 1 and non-type 2 diabetes in a young man due to novel mutation in HNF1A.BMJ case reports · 2025Article
- Gene Panel-Based Genotyping of 279 Turkish Maturity-Onset Diabetes of the Young Patients from Eastern Anatolia.Molecular syndromology · 2025Article
- HNF1A and A1CF coordinate a beta cell transcription-splicing axis that is disrupted in type 2 diabetes.Cell metabolism · 2025Article
- SIRT5-modified human umbilical cord mesenchymal stem cells loaded with antioxidant polydopamine nanozyme enhance parpi resistance in ovarian cancer via fatty acid metabolism reprogramming.Journal of nanobiotechnology · 2025Article
- Investigating the pathogenicity of the recessivemedRxiv : the preprint server for health sciences · 2024Article
- Monogenic diabetes.Diabetology international · 2024Review
- The age-dependent regulation of pancreatic islet landscape is fueled by a HNF1a-immune signaling loop.Mechanisms of ageing and development · 2024Article
- Molecular mechanism of HNF-1A-mediated HNF4A gene regulation and promoter-driven HNF4A-MODY diabetes.JCI insight · 2024Article
- Functional characterization of HNF4A gene variants identify promoter and cell line specific transactivation effects.Human molecular genetics · 2024Article
- Characterisation of HNF1A variants in paediatric diabetes in Norway using functional and clinical investigations to unmask phenotype and monogenic diabetes.Diabetologia · 2023Article
- Single cell multiomic analysis reveals diabetes-associated β-cell heterogeneity driven by HNF1A.Nature communications · 2023Article
- Human gain-of-function variants in HNF1A confer protection from diabetes but independently increase hepatic secretion of atherogenic lipoproteins.Cell genomics · 2023Article
- Role ofBiomedicines · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors at 4 institutions in 3 countries.
Funding
Abstract
Variants in HNF1A encoding hepatocyte nuclear factor 1α (HNF-1A) are associated with maturity-onset diabetes of the young form 3 (MODY 3) and type 2 diabetes. We investigated whether functional classification of HNF1A rare coding variants can inform models of diabetes risk prediction in the general population by analyzing the effect of 27 HNF1A variants identified in well-phenotyped populations (n = 4,115). Bioinformatics tools classified 11 variants as likely pathogenic and showed no association with diabetes risk (combined minor allele frequency [MAF] 0.22%; odds ratio [OR] 2.02; 95% CI 0.73-5.60; P = 0.18). However, a different set of 11 variants that reduced HNF-1A transcriptional activity to <60% of normal (wild-type) activity was strongly associated with diabetes in the general population (combined MAF 0.22%; OR 5.04; 95% CI 1.99-12.80; P = 0.0007). Our functional investigations indicate that 0.44% of the population carry HNF1A variants that result in a substantially increased risk for developing diabetes. These results suggest that functional characterization of variants within MODY genes may overcome the limitations of bioinformatics tools for the purposes of presymptomatic diabetes risk prediction in the general population.
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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.