Large-scale genome-wide analyses of stuttering.

Area of Science:

• Genetics
• Neuroscience
• Speech and Language Sciences

Background:

• Developmental stuttering is a common speech disorder with high heritability.
• The genetic underpinnings of stuttering remain largely uncharacterized.
• Genetic variants may differ across sex and ancestry groups.

Purpose of the Study:

• To investigate the genetic architecture of developmental stuttering.
• To identify shared and distinct genetic variants influencing stuttering risk across sex and ancestry strata.
• To explore genetic correlations between stuttering and other neurodevelopmental and psychiatric conditions.

Main Methods:

• Performed genome-wide association analyses stratified by sex and ancestry.
• Conducted meta-analyses including over one million individuals (99,776 cases, 1,023,243 controls).
• Validated genetic risk in independent datasets and analyzed genetic correlations.

Main Results:

• Identified 57 unique genetic loci associated with stuttering.
• Confirmed the genetic risk of self-reported stuttering in validation cohorts.
• Demonstrated genetic similarities between stuttering and autism, depression, and impaired musical rhythm.

Conclusions:

• This study provides significant insights into the genetic factors contributing to developmental stuttering.
• Findings suggest shared genetic influences between stuttering and other neurodevelopmental traits.
• Identified genetic loci offer a foundation for future research into stuttering etiology and potential therapeutic targets.