Unravelling the genetic basis of stuttering: GWAS meta-analysis highlights link with rare speech disorders

A GWAS meta-analysis in European-ancestry cohorts found common-variant liability to developmental stuttering is strongly shared with self-reported stuttering (genetic correlation rg = 0.66).

• Why it matters: The genetic architecture linking clinically ascertained stuttering, persistence, and recovery is poorly characterized, despite evidence for substantial heritability and comorbidity.
• What they did: The study meta-analyzed 6,096 cases and 81,629 controls from 18 European-ancestry cohorts, including 2,953 clinically confirmed/validated cases, and integrated results with an independent self-report GWAS.
• The result: A self-report polygenic score predicted stuttering in ascertained cases (ΔAUC = 0.067, p = 1.8 x 10-23) and related to greater severity and frequency; persistent stuttering was near-identical to overall stuttering (rg = 0.97).