Genetic studies of stuttering in a founder population
| Autor: | Edwin H. Cook, Jacqueline K. Wittke-Thompson, Nancy J. Cox, Carole Ober, Ehud Yairi, Nicoline Grinager Ambrose, Cheryl A. Roe |
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| Rok vydání: | 2007 |
| Předmět: |
Linguistics and Language
Stuttering Genotype Genetic Linkage Cognitive Neuroscience Experimental and Cognitive Psychology GNPTG Article Language and Linguistics Genetic determinism Speech and Hearing Communication disorder Genetic linkage medicine Humans Language disorder Child Genetics Linkage (software) Chromosomes Human Pair 15 Chromosomes Human Pair 13 LPN and LVN medicine.disease Pedigree Population Surveillance Chromosomes Human Pair 3 medicine.symptom Psychology Founder effect |
| Zdroj: | Journal of Fluency Disorders. 32:33-50 |
| ISSN: | 0094-730X |
| DOI: | 10.1016/j.jfludis.2006.12.002 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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