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Record W4294199668 · doi:10.1192/j.eurpsy.2022.1743

Genetic and epigenetic variations in BDNF gene involved in Anorexia Nervosa

2022· article· en· W4294199668 on OpenAlexaff
Nicolás Ramoz, Gilles Maussion, Julia Clarke, Philip Gorwood

Bibliographic record

VenueEuropean Psychiatry · 2022
Typearticle
Languageen
FieldPsychology
TopicEating Disorders and Behaviors
Canadian institutionsMcGill UniversityMontreal Neurological Institute and Hospital
Fundersnot available
Keywordsrs6265EpigeneticsDNA methylationNeurotrophic factorsBrain-derived neurotrophic factorInternal medicineGenotypingAnorexia nervosaCandidate geneEndocrinologyPsychologyrs4680AlleleMedicineBioinformaticsEating disordersPolymorphism (computer science)GeneticsGenePsychiatryGenotypeBiologyGene expression

Abstract

fetched live from OpenAlex

Introduction Anorexia nervosa (AN) is a chronic psychiatric disorder resulting from abnormal eating habits with a high prevalence (0.5%). AN involves genetic and epigenetic factors supporting that AN is a metabo-psychiatric disorder. One candidate gene for AN, validated by meta-analyzes, is BDNF which encodes the brain-derived neurotrophic factor. BDNF negatively modulates the central control of food intake and its injection in rodents induces weight loss and anorexia. In humans, we observed an association of its functional variant Val66Met/rs6265 and electrodermal response to images of thinness suggesting an association between rs6265 and a reward effect of weight loss in AN. Objectives This work study the impact of the functional polymorphism at risk rs6265, epigenetic variations in DNA methylation of BDNF gene and consequences on the concentrations of BDNF in AN patients. Methods DNA was isolated from 24 AN patients and 48 controls. DNA methylation was measured for sites spanning the BDNF gene using Infinium HumanMethylation450 BeadChip technology. The genotyping of rs6265 was performed by Taqman-SNP assay. The BDNF was dosaged by ELISA from plasmas. Results We observe that several sites are significantly hypermethylated in AN patients compared to controls. AN patients show significantly higher BDNF levels than controls. Finally, this BDNF concentration is significantly higher in AN carrying the risk Met66 allele. Conclusions This work demonstrates the effects of genetic and epigenetic variations of BDNF , which could constitute relevant diagnostic biomarkers of AN, and their likely consequences in the pathophysiology of AN. This work was supported by the Nestlé Foundation. Disclosure No significant relationships.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame distilled prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.000
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesInsufficient payload (model declined to judge)
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.011
Threshold uncertainty score1.000

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.000
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0010.000

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.015
GPT teacher head0.263
Teacher spread0.247 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one teacher head, not a consensus.

Study designObservational
Domainnot available
GenreEmpirical

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

Quick stats

Citations1
Published2022
Admission routes1
Has abstractyes

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