Evidence map›Paper›PMID 40721530›Full record

SynthesisNature genetics2025

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 and 12 more

Abstract readMeta-Analysis
In one paragraph

Synthesis in Nature genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed, 1 pooled it
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

9 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Article
  3. Article
  4. Article
  5. Article
  6. Article
  7. Article
  8. Review
  9. Unraveling Stuttering Through a Multi-Omics Lens.Life (Basel, Switzerland) · 2025
    Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

22 authors.

Hannah G Polikowsky *Vanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN, USA.
Alyssa C Scartozzi *Vanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN, USA.
Douglas M Shaw *Vanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN, USA.
Dillon G PruettHearing and Speech Sciences, Vanderbilt University, Nashville, TN, USA.ORCID http://orcid.org/0000-0002-9760-2133
Hung-Hsin ChenVanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN, USA.ORCID http://orcid.org/0000-0002-1921-2797
Lauren E PettyVanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN, USA.ORCID http://orcid.org/0000-0003-1619-6303
Alexander S PettyVanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN, USA.
Emily J LowtherCurtin School of Allied Health, Curtin University, Perth, Australia.ORCID http://orcid.org/0009-0006-3634-9847
Shu-Hsien ChoDepartment of Epidemiology, University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Yao YuDepartment of Epidemiology, University of Texas MD Anderson Cancer Center, Houston, TX, USA.
23andMe Research Team
Sahar MozaffariMaze Therapeutics, San Francisco, CA, USA.ORCID http://orcid.org/0000-0002-8216-1670
Christy L AveryDepartment of Epidemiology, Gillings School of Global Public Health, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.ORCID http://orcid.org/0000-0002-1044-8162
Kathleen Mullan HarrisCarolina Population Center, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.ORCID http://orcid.org/0000-0001-9757-1026
Reyna L GordonDepartment of Otolaryngology, Vanderbilt University Medical Center, Nashville, TN, USA.ORCID http://orcid.org/0000-0003-1643-6979
Janet M BeilbyCurtin School of Allied Health, Curtin University, Perth, Australia.ORCID http://orcid.org/0000-0002-7439-5514
Kathryn Z ViljoenCurtin School of Allied Health, Curtin University, Perth, Australia.
Robin M JonesHearing and Speech Sciences, Vanderbilt University, Nashville, TN, USA.ORCID http://orcid.org/0000-0002-1150-0786
Chad D HuffDepartment of Epidemiology, University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Heather M HighlandDepartment of Epidemiology, Gillings School of Global Public Health, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.ORCID http://orcid.org/0000-0002-3583-8239
Shelly Jo KraftCommunication Sciences and Disorders, Wayne State University, Detroit, MI, USA.
Jennifer E BelowVanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN, USA. jennifer.e.below@vanderbilt.edu.ORCID http://orcid.org/0000-0002-1346-1872

Funding

Overall: Eunice Kennedy Shriver Intellectual and Developmental Disabilities Research Center at VanderbiltP50HD103537 · NICHD · VANDERBILT UNIVERSITY MEDICAL CENTER · PI Lea K Davis · 2020 to 2026
$10.3M
NRSA Training CoreTL1TR002244 · NCATS · VANDERBILT UNIVERSITY MEDICAL CENTER · PI Julie A. Bastarache · 2017 to 2026
$4.6M
Developmental stuttering: Population-based genetic discoveryR01DC017175 · NIDCD · VANDERBILT UNIVERSITY MEDICAL CENTER · PI BELOW, JENNIFER, KRAFT, SHELLY JO · 2018 to 2022
$3.5M
Early childhood stuttering and risk for persistence: The impact of emotion on speech and cognitive controlR01DC020311 · NIDCD · VANDERBILT UNIVERSITY MEDICAL CENTER · PI Robin Michael Jones · 2022 to 2026
$2.5M
Psychophysiology of Childhood Stuttering: Cognitive-Emotional MechanismsR21DC016723 · NIDCD · VANDERBILT UNIVERSITY MEDICAL CENTER · PI JONES, ROBIN MICHAEL · 2018 to 2021
$514k
Genetic Study of Developmental Stuttering.R03DC015329 · NIDCD · WAYNE STATE UNIVERSITY · PI KRAFT, SHELLY JO · 2016 to 2018
$465k
Functional characterizations of the genetic etiology of stutteringF31DC022482 · NIDCD · VANDERBILT UNIVERSITY · PI SCARTOZZI, ALYSSA · 2024 to 2025
$63k
NCATS NIH HHS TL1 TR002244NICHD NIH HHS P50 HD103537NIDCD NIH HHS F31 DC022482NIDCD NIH HHS R01 DC017175NIDCD NIH HHS R01 DC020311NIDCD NIH HHS R03 DC015329NIDCD NIH HHS R21 DC016723U.S. Department of Health & Human Services | NIH | National Center for Advancing Translational Sciences (NCATS) TL1TR002244U.S. Department of Health & Human Services | NIH | National Institute on Deafness and Other Communication Disorders (NIDCD) 1R03DC015329U.S. Department of Health & Human Services | NIH | National Institute on Deafness and Other Communication Disorders (NIDCD) 5R21DC01672U.S. Department of Health & Human Services | NIH | National Institute on Deafness and Other Communication Disorders (NIDCD) 5R21DC016723U.S. Department of Health & Human Services | NIH | National Institute on Deafness and Other Communication Disorders (NIDCD) F31DC022482U.S. Department of Health & Human Services | NIH | National Institute on Deafness and Other Communication Disorders (NIDCD) R01DC017175U.S. Department of Health & Human Services | NIH | National Institute on Deafness and Other Communication Disorders (NIDCD) R01DC017175)U.S. Department of Health & Human Services | NIH | National Institute on Deafness and Other Communication Disorders (NIDCD) R01DC020311
6 · The paper itself

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.

Indexed as

Genetic Predisposition to DiseaseGenome-Wide Association StudyStutteringAdultAutistic DisorderCase-Control StudiesFemaleHumansMalePolymorphism, Single Nucleotide

Identifiers

PMID40721530
PMCPMC12339392

What Socratic holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.