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Genome-Wide Study Confirms Genetic Basis of Stuttering, Identifies 57 Risk Loci

The study offers a blueprint for early risk detection, potential therapeutic targets, improved understanding of sex-specific recovery patterns.

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Overview

  • A collaborative GWAS of more than 1.1 million individuals pinpointed 57 distinct genomic loci and 48 genes associated with stuttering risk.
  • Analysis revealed shared genetic architecture between stuttering, autism, depression and musical rhythm traits, suggesting common neurological pathways.
  • Researchers observed sex-specific genetic signatures that differentiate persistent stuttering in males from recovery in females and built polygenic risk scores from male-derived signals that predicted risk across both sexes.
  • The gene VRK2 emerged as the strongest male-associated signal and has prior links to beat synchronization and language decline in Alzheimer’s studies.
  • Investigators are calling for follow-up research into molecular mechanisms, early screening strategies and development of targeted interventions.