ArticleJAMA2014
Association of a low-frequency variant in HNF1A with type 2 diabetes in a Latino population.
Article in JAMA, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 139 papers, 5 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.
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Who cites it
139 citing papers in PubMed, 5 syntheses or guidelines pooled it, 269 citations in OpenAlex.
- Pan-UK Biobank genome-wide association analyses enhance discovery and resolution of ancestry-enriched effects.Nature genetics · 2025Pooled it
- Multi-ancestry genome-wide meta-analysis of 56,241 individuals identifies known and novel cross-population and ancestry-specific associations as novel risk loci for Alzheimer's disease.Genome biology · 2025Pooled it
- Multi-ancestry genome-wide association analyses identify novel genetic mechanisms in rheumatoid arthritis.Nature genetics · 2022Pooled it
- Multi-ethnic GWAS and fine-mapping of glycaemic traits identify novel loci in the PAGE Study.Diabetologia · 2022Pooled it
- Associations between Genotype-Diet Interactions and Weight Loss-A Systematic Review.Nutrients · 2020Pooled it
- Trial
- Variation in Maturity-Onset Diabetes of the Young Genes Influence Response to Interventions for Diabetes Prevention.The Journal of clinical endocrinology and metabolism · 2017Trial
- plinkQC: an integrated tool for ancestry inference, sample selection, and quality control in population genetics.Bioinformatics (Oxford, England) · 2026Article
- Type 2 diabetes genetics in 125,000 admixed adults from Mexico City.medRxiv : the preprint server for health sciences · 2026Article
- Association study uncovers obesity-linked variants in mobile elements as potential regulators of gene expression.iScience · 2026Article
- The effect of Indigenous American genomic ancestry on type 2 diabetes in Mexico: an analysis of 134 548 individuals from the Mexico City Prospective Study.The Lancet. Public health · 2026Article
- Genomic landscape of Mexican patients with maturity onset diabetes of the young: beyond mutations in MODY-known genes.Frontiers in endocrinology · 2026Article
- Article
- From Human to Mouse and Back Again: Genetic and Genomic Ta(i)les of Islet Dysfunction in Type 2 Diabetes.Annual review of genetics · 2025Review
- HNF1A and A1CF coordinate a beta cell transcription-splicing axis that is disrupted in type 2 diabetes.Cell metabolism · 2025Article
- Maturity onset diabetes of the young and beyond: the changing face of single-gene diabetes.European journal of endocrinology · 2025Review
- Phenotypic and Genetic Diversity in Diabetes Across Populations.The Journal of clinical endocrinology and metabolism · 2025Review
- Distinct Roles of Common Genetic Variants and Their Contributions to Diabetes: MODY and Uncontrolled T2DM.Biomolecules · 2025Review
- Genetics of Latin American Diversity Project: Insights into population genetics and association studies in admixed groups in the Americas.Cell genomics · 2024Article
- Effect of the Complex Allele p.[Ile148Thr;Ile1023_Val1024del] in Cystic Fibrosis and Tracing of a Founder Effect in Mexican Families.Life (Basel, Switzerland) · 2024Article
79 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issuedJiménez-Morales, Silvia[Added]
Authors and funding
52 authors at 18 institutions in 4 countries.
Funding
Abstract
importanceLatino populations have one of the highest prevalences of type 2 diabetes worldwide.
objectivesTo investigate the association between rare protein-coding genetic variants and prevalence of type 2 diabetes in a large Latino population and to explore potential molecular and physiological mechanisms for the observed relationships. DESIGN, SETTING, AND
participantsWhole-exome sequencing was performed on DNA samples from 3756 Mexican and US Latino individuals (1794 with type 2 diabetes and 1962 without diabetes) recruited from 1993 to 2013. One variant was further tested for allele frequency and association with type 2 diabetes in large multiethnic data sets of 14,276 participants and characterized in experimental assays. MAIN OUTCOME AND MEASURES: Prevalence of type 2 diabetes. Secondary outcomes included age of onset, body mass index, and effect on protein function.
resultsA single rare missense variant (c.1522G>A [p.E508K]) was associated with type 2 diabetes prevalence (odds ratio [OR], 5.48; 95% CI, 2.83-10.61; P = 4.4 × 10(-7)) in hepatocyte nuclear factor 1-α (HNF1A), the gene responsible for maturity onset diabetes of the young type 3 (MODY3). This variant was observed in 0.36% of participants without type 2 diabetes and 2.1% of participants with it. In multiethnic replication data sets, the p.E508K variant was seen only in Latino patients (n = 1443 with type 2 diabetes and 1673 without it) and was associated with type 2 diabetes (OR, 4.16; 95% CI, 1.75-9.92; P = .0013). In experimental assays, HNF-1A protein encoding the p.E508K mutant demonstrated reduced transactivation activity of its target promoter compared with a wild-type protein. In our data, carriers and noncarriers of the p.E508K mutation with type 2 diabetes had no significant differences in compared clinical characteristics, including age at onset. The mean (SD) age for carriers was 45.3 years (11.2) vs 47.5 years (11.5) for noncarriers (P = .49) and the mean (SD) BMI for carriers was 28.2 (5.5) vs 29.3 (5.3) for noncarriers (P = .19). CONCLUSIONS AND RELEVANCE: Using whole-exome sequencing, we identified a single low-frequency variant in the MODY3-causing gene HNF1A that is associated with type 2 diabetes in Latino populations and may affect protein function. This finding may have implications for screening and therapeutic modification in this population, but additional studies are required.
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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.