Genome-wide association study of persistent developmental stuttering

Kraft, Shelly Jo

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https://hdl.handle.net/2142/17054 Copy

Description

Title

Genome-wide association study of persistent developmental stuttering

Author(s)

Kraft, Shelly Jo

Issue Date

2010-08-31T20:30:43Z

Director of Research (if dissertation) or Advisor (if thesis)

• Ambrose, Nicoline G.
• Cox, Nancy J.

Doctoral Committee Chair(s)

Ambrose, Nicoline G.

Committee Member(s)

• Cox, Nancy J.
• Yairi, Ehud
• DeThorne, Laura S.
• Ceman, Stephanie S.

Department of Study

Speech & Hearing Science

Discipline

Speech & Hearing Science

Degree Granting Institution

University of Illinois at Urbana-Champaign

Degree Name

Ph.D.

Degree Level

Dissertation

Keyword(s)

• Stuttering
• Genome-wide association study (GWAS)
• Genetics

Abstract

A genome-wide association study (GWAS) is an approach that involves scanning markers across complete sets of DNA, or genomes, of many people to indentify genetic variations associated with a particular disease. A GWAS uses unrelated individuals, and for the purposes of this study, only those who persistently stutter, to identify common genetic variants among these people when contrasted to the general population of matched ethnicity. Eighty-four affected subjects, ages 13 to 70 years, of northern European ancestry and 107 matched controls were investigated to identify replicable candidate genes that influence the risk of individuals to stutter. The results associated 10 significant candidate genes with persistent developmental stuttering. In addition, the pathways in which these genes function to potentially disrupt the fluent production of speech were investigated. Functional significance was found with relevance to three functional categories pertaining to neural development, neural function, and behavior. Many of the genes were also found to be implicated in other known neurological, behavioral, and speech and language disorders.

Graduation Semester

2010-08

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http://hdl.handle.net/2142/17054

Copyright and License Information

Copyright 2010 Shelly Jo Kraft

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