TY - JOUR
T1 - Genetic studies of stuttering in a founder population
AU - Wittke-Thompson, Jacqueline K.
AU - Ambrose, Nicoline
AU - Yairi, Ehud
AU - Roe, Cheryl
AU - Cook, Edwin H.
AU - Ober, Carole
AU - Cox, Nancy J.
N1 - Funding Information:
We would like to acknowledge the Hutterites for their participation in our studies. We would also like to acknowledge Harvey Dytch for constructing the minimal pedigree, Dr. M. Geoff Hayes for his helpful discussions, and the Mammalian Genotyping Center of the National Heart, Lung and Blood Institute. This work was supported by NIH grants DC04415, DK55889, and DK58026 to N.J.C., DC05210 to E.Y. and N.A., and HL56399 and HL66533 to C.O. J.K.W. was supported by an NIH training grant (GM07197). QUESTIONS CONTINUING EDUCATION Genetic studies of stuttering in a founder population
PY - 2007
Y1 - 2007
N2 - 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.
AB - 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.
KW - Association
KW - Linkage
KW - Meta-analysis
KW - Stuttering
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U2 - 10.1016/j.jfludis.2006.12.002
DO - 10.1016/j.jfludis.2006.12.002
M3 - Article
C2 - 17276504
AN - SCOPUS:33847171884
SN - 0094-730X
VL - 32
SP - 33
EP - 50
JO - Journal of Fluency Disorders
JF - Journal of Fluency Disorders
IS - 1
ER -