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Association of the GABRB3 microsatellite marker in gamma-aminobutyric acid-A receptor beta 3 subunit gene with autism spectrum disorders in Korean trios


This study aimed to identify the association between GABA-A receptor subunit β 3 (GABRB3) gene and autism spectrum disorders (ASD) in Korea.

Materials and methods

Fifty-eight Korean children with ASD (47 boys (81.0%), mean age, 5.5 ± 4.1 years old) were enrolled from the outpatient clinic at a general hospital in Seoul, Korea. In addition, 46 family trios, each consisting of an affected child with ASD and that child's biological parent, were recruited. Eighty-six healthy control subjects (71 males (82.6%), mean age, 33.6 ± 9.3 years old) were also recruited through advertisements in local newspapers. TDT was applied to analyze the preferential intergenerational transmission of GABRB3 microsatellite in 46 complete trios.


183 bp long allele in GABRB3 gene were preferentially transmitted in families with ASD (p = 0.025). A population-based case-control study, however, showed no association between ASD and GABRB3 microsatellite polymorphism.


Our data provide preliminary evidence that GABRB3 gene is associated with ASD in Korea.


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This study was supported by a research fund of the Clinical Research Institute of Seoul National University Hospital (04-2005-067-0).

Author information

Correspondence to Hanik Yoo.

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Open Access This article is published under license to BioMed Central Ltd. This is an Open Access article is distributed under the terms of the Creative Commons Attribution 2.0 International License (, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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About this article


  • Autism Spectrum Disorder
  • Autism Spectrum Disorder
  • Healthy Control Subject
  • Receptor Subunit
  • Receptor Beta