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Fine mapping of autistic disorder to chromosome 15q11-q13 by use of phenotypic subtypes.

Publication ,  Journal Article
Shao, Y; Cuccaro, ML; Hauser, ER; Raiford, KL; Menold, MM; Wolpert, CM; Ravan, SA; Elston, L; Decena, K; Donnelly, SL; Abramson, RK ...
Published in: Am J Hum Genet
March 2003

Autistic disorder (AutD) is a complex genetic disease. Available evidence suggests that several genes contribute to the underlying genetic risk for the development of AutD. However, both etiologic heterogeneity and genetic heterogeneity confound the discovery of AutD-susceptibility genes. Chromosome 15q11-q13 has been identified as a strong candidate region on the basis of both the frequent occurrence of chromosomal abnormalities in that region and numerous suggestive linkage and association findings. Ordered-subset analysis (OSA) is a novel statistical method to identify a homogeneous subset of families that contribute to overall linkage at a given chromosomal location and thus to potentially help in the fine mapping and localization of the susceptibility gene within a chromosomal area. For the present analysis, a factor that represents insistence on sameness (IS)--derived from a principal-component factor analysis using data on 221 patients with AutD from the repetitive behaviors/stereotyped patterns domain in the Autism Diagnostic Interview-Revised--was used as a covariate in OSA. Analysis of families sharing high scores on the IS factor increased linkage evidence for the 15q11-q13 region, at the GABRB3 locus, from a LOD score of 1.45 to a LOD score of 4.71. These results narrow our region of interest on chromosome 15 to an area surrounding the gamma-aminobutyric acid-receptor subunit genes, in AutD, and support the hypothesis that the analysis of phenotypic homogeneous subtypes may be a powerful tool for the mapping of disease-susceptibility genes in complex traits.

Duke Scholars

Published In

Am J Hum Genet

DOI

ISSN

0002-9297

Publication Date

March 2003

Volume

72

Issue

3

Start / End Page

539 / 548

Location

United States

Related Subject Headings

  • Phenotype
  • Multivariate Analysis
  • Lod Score
  • Humans
  • Genetics & Heredity
  • Genetic Markers
  • Genetic Linkage
  • Genes, Recessive
  • Genes, Dominant
  • Family
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Shao, Y., Cuccaro, M. L., Hauser, E. R., Raiford, K. L., Menold, M. M., Wolpert, C. M., … Pericak-Vance, M. A. (2003). Fine mapping of autistic disorder to chromosome 15q11-q13 by use of phenotypic subtypes. Am J Hum Genet, 72(3), 539–548. https://doi.org/10.1086/367846
Shao, Yujun, M. L. Cuccaro, E. R. Hauser, K. L. Raiford, M. M. Menold, C. M. Wolpert, S. A. Ravan, et al. “Fine mapping of autistic disorder to chromosome 15q11-q13 by use of phenotypic subtypes.Am J Hum Genet 72, no. 3 (March 2003): 539–48. https://doi.org/10.1086/367846.
Shao Y, Cuccaro ML, Hauser ER, Raiford KL, Menold MM, Wolpert CM, et al. Fine mapping of autistic disorder to chromosome 15q11-q13 by use of phenotypic subtypes. Am J Hum Genet. 2003 Mar;72(3):539–48.
Shao, Yujun, et al. “Fine mapping of autistic disorder to chromosome 15q11-q13 by use of phenotypic subtypes.Am J Hum Genet, vol. 72, no. 3, Mar. 2003, pp. 539–48. Pubmed, doi:10.1086/367846.
Shao Y, Cuccaro ML, Hauser ER, Raiford KL, Menold MM, Wolpert CM, Ravan SA, Elston L, Decena K, Donnelly SL, Abramson RK, Wright HH, DeLong GR, Gilbert JR, Pericak-Vance MA. Fine mapping of autistic disorder to chromosome 15q11-q13 by use of phenotypic subtypes. Am J Hum Genet. 2003 Mar;72(3):539–548.
Journal cover image

Published In

Am J Hum Genet

DOI

ISSN

0002-9297

Publication Date

March 2003

Volume

72

Issue

3

Start / End Page

539 / 548

Location

United States

Related Subject Headings

  • Phenotype
  • Multivariate Analysis
  • Lod Score
  • Humans
  • Genetics & Heredity
  • Genetic Markers
  • Genetic Linkage
  • Genes, Recessive
  • Genes, Dominant
  • Family