Large-scale genome-wide analyses of stuttering, 2025, Polikowsky et al

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Large-scale genome-wide analyses of stuttering

Hannah G. Polikowsky, Alyssa C. Scartozzi, Douglas M. Shaw, Dillon G. Pruett, Hung-Hsin Chen, Lauren E. Petty, Alexander S. Petty, Emily J. Lowther, Shu-Hsien Cho, Yao Yu, 23andMe Research Team, Sahar Mozaffari, Christy L. Avery, Kathleen Mullan Harris, Reyna L. Gordon, Janet M. Beilby, Kathryn Z. Viljoen, Robin M. Jones, Chad D. Huff, Heather M. Highland, Shelly Jo Kraft & Jennifer E. Below

Abstract
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.

Web | PDF | Nature Genetics | Open Access
 
Science: "Genomewide study makes ‘quantum leap’ in understanding stuttering"

'In the new study, researchers turned to 23andMe, which assembled a vast database of users’ genetic information and other data. They analyzed the genetic profiles of 99,076 users who answered “yes” to the company’s survey question, “Have you ever had a stammer or stutter?” and compared them with data from 981,944 who answered “no,” grouping the results by sex and genetic ancestry. The result was 57 genetic regions with modest contributions to the risk of stuttering.'

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'The results also point to a few genes that could eventually help researchers understand why stuttering arises. The strongest signal emerged for VRK2. The gene has been linked to early neuronal development, and variants have been associated with neurological disorders such as schizophrenia, epilepsy, and multiple sclerosis, as well as with an impaired ability to clap or tap in time to a musical beat.

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'More than 20 genes identified in the study offer another set of clues: They have previously been linked to neurological and mental conditions, including autism and attention-deficit/hyperactivity disorder, suggesting stuttering might arise via some of the same developmental pathways.'

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'Future work may help firm up these new genetic hints to identify genes with a causal role in stuttering, but “it’s unlikely that we will find any simple on-off switches to manage it, which is what people who stutter, families, and society in general seem to expect,” says Nan Bernstein Ratner, a speech pathologist the University of Maryland who was not involved with the study.

But the findings might help dissipate stigma. Many still assume stuttering is a result of trauma or a personal failing, says co-author Jennifer Below, a geneticist at Vanderbilt University. As a result, people who stutter often face bullying and have high rates of depression and suicidal ideation. “We want to get out the message that stuttering is a genetic trait that is not someone’s fault, to help change public perception and help dispel some of the internalized feelings of wrongdoing.”'
 
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