Large-scale genome-wide analyses of stuttering.

Scientists studied the genes of over one million people to understand why stuttering runs in families. They found 57 specific genetic locations linked to stuttering. The research showed that stuttering shares some genetic similarities with autism, depression, and difficulty with musical rhythm. This is the largest study of stuttering genetics ever conducted and helps explain why some children are more likely to stutter than others.

This large-scale genome-wide association study examined the genetic architecture of developmental stuttering across sex and ancestry groups. Analyzing over one million individuals (99,776 cases and 1,023,243 controls), researchers identified 57 unique genetic loci associated with stuttering risk. The study validated findings in independent datasets and revealed genetic similarities between stuttering and autism, depression, and impaired musical rhythm. Sex-stratified analyses suggested both shared and distinct genetic variants impact stuttering risk differently across groups.

This research represents the largest genetic investigation of stuttering to date, providing robust insights into the hereditary basis of this common speech condition that affects communication development.

These findings advance understanding of stuttering's genetic basis and its relationship with autism and other conditions. Results may inform future genetic screening tools and personalized intervention strategies, while supporting the need for comprehensive assessment considering comorbid conditions in clinical practice.

The study relied on self-reported stuttering rather than clinical diagnosis, which may affect accuracy. The abstract does not specify demographic breakdown or potential confounding variables that could influence the genetic associations identified.

Developmental stuttering is a highly heritable, common speech condition characterized by prolongations, blocks and repetitions of speech. Although stuttering is highly heritable and enriched within families, the genetic architecture is largely understudied. We reasoned that there are both shared and distinct genetic variants impacting stuttering risk within sex and ancestry groups. To test this idea, we performed eight primary genome-wide association analyses of self-reported stuttering that were stratified by sex and ancestry, as well as secondary meta-analyses of more than one million individuals (99,776 cases and 1,023,243 controls), identifying 57 unique loci.

We validated the genetic risk of self-reported stuttering in two independent datasets. We further show genetic similarity of stuttering with autism, depression and impaired musical rhythm across sexes, with follow-up analyses highlighting potentially causal relationships among these traits. Our findings provide well-powered insights into genetic factors underlying stuttering.