Genetic studies of stuttering in a founder population

Jacqueline K. Wittke-Thompson, Nicoline Ambrose, Ehud Yairi, Cheryl Roe, Edwin H. Cook, Carole Ober, Nancy J. Cox

Research output: Contribution to journalArticlepeer-review


Genome-wide linkage and association analyses were conducted to identify genetic determinants of stuttering in a founder population in which 48 individuals affected with stuttering are connected in a single 232-person genealogy. A novel approach was devised to account for all necessary relationships to enable multipoint linkage analysis. Regions with nominal evidence for linkage were found on chromosomes 3 (P = 0.013, 208.8 centiMorgans (cM)), 13 (P = 0.012, 52.6 cM), and 15 (P = 0.02, 100 cM). Regions with nominal evidence for association with stuttering that overlapped with a linkage signal are located on chromosomes 3 (P = 0.0047, 195 cM), 9 (P = 0.0067, 46.5 cM), and 13 (P = 0.0055, 52.6 cM). We also conducted the first meta-analysis for stuttering using results from linkage studies in the Hutterites and The Illinois International Genetics of Stuttering Project and identified regions with nominal evidence for linkage on chromosomes 2 (P = 0.013, 180-195 cM) and 5 (P = 0.0051, 105-120 cM; P = 0.015, 120-135 cM). None of the linkage signals detected in the Hutterite sample alone, or in the meta-analysis, meet genome-wide criteria for significance, although some of the stronger signals overlap linkage mapping signals previously reported for other speech and language disorders. Educational objectives: After reading this article, the reader will be able to: (1) summarize information about the background of common disorders and methodology of genetic studies; (2) evaluate the role of genetics in stuttering; (3) discuss the value of using founder populations in genetic studies; (4) articulate the importance of combining several studies in a meta-analysis; (5) discuss the overlap of genetic signals identified in stuttering with other speech and language disorders.

Original languageEnglish (US)
Pages (from-to)33-50
Number of pages18
JournalJournal of Fluency Disorders
Issue number1
StatePublished - 2007


  • Association
  • Linkage
  • Meta-analysis
  • Stuttering

ASJC Scopus subject areas

  • Experimental and Cognitive Psychology
  • Language and Linguistics
  • Linguistics and Language
  • Cognitive Neuroscience
  • Speech and Hearing
  • LPN and LVN


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