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Genome-wide association study of persistent developmental stuttering

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Title: Genome-wide association study of persistent developmental stuttering
Author(s): Kraft, Shelly Jo
Director of Research: Ambrose, Nicoline G.; Cox, Nancy J.
Doctoral Committee Chair(s): Ambrose, Nicoline G.
Doctoral Committee Member(s): Cox, Nancy J.; Yairi, Ehud; DeThorne, Laura S.; Ceman, Stephanie S.
Department / Program: Speech & Hearing Science
Discipline: Speech & Hearing Science
Degree Granting Institution: University of Illinois at Urbana-Champaign
Degree: Ph.D.
Genre: Dissertation
Subject(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.
Issue Date: 2010-08-31
URI: http://hdl.handle.net/2142/17054
Rights Information: Copyright 2010 Shelly Jo Kraft
Date Available in IDEALS: 2010-08-31
2012-09-07
Date Deposited: 2010-08
 

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