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Related Concept Videos

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Related Experiment Video

Updated: Apr 30, 2026

Chronic Intermittent Ethanol Vapor Exposure Paired with Two-Bottle Choice to Model Alcohol Use Disorder
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Blood-Based Epigenetic Signatures in Brazilian Males With Alcohol Use Disorder.

Laís da Silva Pereira-Rufino1, Raissa Mazzer de Sino Romano1, Regiane Chiavelli Lamim2

  • 1Departamento de Morfologia e Genética, Escola Paulista de Medicina, Universidade Federal de São Paulo - UNIFESP, São Paulo, SP, Brazil.

Addiction Biology
|April 28, 2026
PubMed
Summary

This study found DNA methylation changes in Brazilian males with alcohol use disorder (AUD). These epigenetic alterations impact brain pathways, suggesting a link between chronic alcohol use and cognitive impairments.

Keywords:
DNA methylationalcohol use disorder (AUD)central nervous systemneuronal developmentsynaptic organization

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Area of Science:

  • Neuroscience
  • Genetics
  • Psychiatry

Background:

  • Alcohol use disorder (AUD) is a global health issue with known epigenetic alterations, particularly in the brain.
  • A gap exists in epigenome-wide association studies (EWAS) within diverse populations like Brazil.
  • This study addresses the need for EWAS in a Brazilian cohort to understand AUD-related epigenetic changes.

Purpose of the Study:

  • To conduct an exploratory epigenome-wide association study (EWAS) in Brazilian males with AUD.
  • To identify DNA methylation signatures linked to brain-related biological pathways in AUD.
  • To investigate epigenetic alterations in a genetically and culturally diverse population.

Main Methods:

  • Collected peripheral blood samples from 54 AUD patients and 70 controls in São Paulo, Brazil.
  • Assessed genome-wide DNA methylation using the Infinium MethylationEPIC BeadChip v2.0.
  • Performed enrichment analyses to identify affected biological pathways.

Main Results:

  • Identified four differentially methylated loci in genes related to intracellular signaling and cellular stress.
  • Found hypomethylation in pathways associated with neuronal/axon development and synaptic organization in the AUD group.
  • Detected hypomethylation in regulatory and exonic regions of key genes (ABAT, DLX5, PHGDH, TRPM2, GABBR1).

Conclusions:

  • This is the first EWAS in a Brazilian AUD cohort, revealing novel DNA methylation alterations.
  • Highlighted genes and pathways involved in neurogenesis, synaptic, and GABAergic signaling are affected by chronic alcohol consumption.
  • Epigenetic modifications suggest a significant impact on central nervous system processes, potentially explaining cognitive and behavioral deficits in AUD.