Psychiatry Investig.  2011 Mar;8(1):61-66.

Genome-Wide Association Scan of Korean Autism Spectrum Disorders with Language Delay: A Preliminary Study

Affiliations
  • 1Department of Child and Adolescent Psychiatry, College of Medicine, Seoul National University Hospital, Seoul, Korea.
  • 2Department of Neuropsychiatry, Seoul National University Bungdang Hospital, Seongnam, Korea.
  • 3Department of Preventive Medicine, School of Medicine, Eulji University, Daejeon, Korea.
  • 4Department of Psychiatry, Gachon University of Medicine and Science, Incheon, Korea.
  • 5Department of Psychiatry, Chonbuk National University Hospital, Jeonju, Korea.
  • 6Department of Psychiatry, Chungbuk National University Hospital, Cheongju, Korea.
  • 7Department of Psychiatry, Kyungpook National University Hospital, Daegu, Korea.
  • 8Department of Pharmacology and Eulji University Medical Sciences Research Center, School of Medicine, Eulji University, Daejeon, Korea. sakim@eulji.ac.kr

Abstract


OBJECTIVE
Communication problems are a prevalent symptom of autism spectrum disorders (ASDs), which have a genetic background. Although several genome-wide studies on ASD have suggested a number of candidate genes, few studies have reported the association or linkage of specific endophenotypes to ASDs.
METHODS
Forty-two Korean ASD patients who showed a language delay were enrolled in this study with their parents. We performed a genome-wide scan by using the Affymetrix SNP Array 5.0 platform to identify candidate genes responsible for language delay in ASDs.
RESULTS
We detected candidate single-nucleotide polymorphisms (SNPs) in chromosome 11, rs11212733 (p-value=9.76x10(-6)) and rs7125479 (p-value=1.48x10(-4)), as a marker of language delay in ASD using the transmission disequilibrium test and multifactor dimensionality reduction test.
CONCLUSION
Although our results suggest that several SNPs are associated with language delay in ASD, rs11212733 we were not able to observe any significant results after correction of multiple comparisons. This may imply that more samples may be required to identify genes associated with language delay in ASD.

Keyword

Autism spectrum disorder; Genome-wide association study; Language delay

MeSH Terms

Autistic Disorder
Child
Autism Spectrum Disorder
Chromosomes, Human, Pair 11
Endophenotypes
Genome-Wide Association Study
Humans
Language Development Disorders
Multifactor Dimensionality Reduction
Parents
Polymorphism, Single Nucleotide
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