ArticleThe Journal of clinical investigation2013
Eating disorder predisposition is associated with ESRRA and HDAC4 mutations.
Article in The Journal of clinical investigation, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 53 papers, 1 of them a synthesis 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
53 citing papers in PubMed, 1 synthesis or guideline pooled it, 83 citations in OpenAlex.
- Identification and Evolutionary Analysis of Potential Candidate Genes in a Human Eating Disorder.BioMed research international · 2016Pooled it
- Shared and distinct genetic architectures of eating disorders and obesity: From monogenic causes to polygenic risk.Reviews in endocrine & metabolic disorders · 2026Review
- Rare protein-disrupting variants inmedRxiv : the preprint server for health sciences · 2026Article
- Comprehensive insights into emerging advances in the Neurobiology of anorexia.Journal of advanced research · 2026Review
- Patients with anorexia nervosa have an increased burden of rare, damaging mutations in the BBOX1 gene.Journal of eating disorders · 2025Article
- Genetics of Anorexia Nervosa: Translation to Future Personalized Therapies.The Psychiatric clinics of North America · 2025Review
- Influence of Nutrition, Lifestyle Habits, and Socio-Demographic Determinants on Eating Disorder Symptoms in the Spanish Young Adult Population: A Cross-Sectional Nationwide Survey.Medicina (Kaunas, Lithuania) · 2024Article
- APOE2 protects against Aβ pathology by improving neuronal mitochondrial function through ERRα signaling.Cellular & molecular biology letters · 2024Article
- RareHeliyon · 2024Article
- Ovarian hormones and eating disorders.Frontiers in psychology · 2024Review
- Review
- Gender and sex in eating disorders: A narrative review of the current state of knowledge, research gaps, and recommendations.Brain and behavior · 2023Review
- The Australasian dingo archetype: de novo chromosome-length genome assembly, DNA methylome, and cranial morphology.GigaScience · 2023Article
- The Australasian dingo archetype:bioRxiv : the preprint server for biology · 2023Article
- Mental health and health behaviours among patients with eating disorders: a case-control study in France.Journal of eating disorders · 2022Article
- TET3 epigenetically controls feeding and stress response behaviors via AGRP neurons.The Journal of clinical investigation · 2022Article
- A next generation sequencing gene panel for use in the diagnosis of anorexia nervosa.Eating and weight disorders : EWD · 2022Article
- Gene variants in eating disorders. Focus on anorexia nervosa, bulimia nervosa, and binge-eating disorder.Journal of preventive medicine and hygiene · 2022Review
- Genetics and neurobiology of eating disorders.Nature neuroscience · 2022Review
- Editorial: Neuroepigenetics of Neuropsychiatric Disease-Hope, Success and Obstacles for Translational Findings and Applications.Frontiers in neuroscience · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
14 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Anorexia nervosa and bulimia nervosa are common and severe eating disorders (EDs) of unknown etiology. Although genetic factors have been implicated in the psychopathology of EDs, a clear biological pathway has not been delineated. DNA from two large families affected by EDs was collected, and mutations segregating with illness were identified by whole-genome sequencing following linkage mapping or by whole-exome sequencing. In the first family, analysis of twenty members across three generations identified a rare missense mutation in the estrogen-related receptor α (ESRRA) gene that segregated with illness. In the second family, analysis of eight members across four generations identified a missense mutation in the histone deacetylase 4 (HDAC4) gene that segregated with illness. ESRRA and HDAC4 were determined to interact both in vitro in HeLa cells and in vivo in mouse cortex. Transcriptional analysis revealed that HDAC4 potently represses the expression of known ESRRA-induced target genes. Biochemical analysis of candidate mutations revealed that the identified ESRRA mutation decreased its transcriptional activity, while the HDAC4 mutation increased transcriptional repression of ESRRA. Our findings suggest that mutations that result in decreased ESRRA activity increase the risk of developing EDs.
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Registered trials
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.