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Neuropsychobiology. 2006;54(3):160-5. Epub 2007 Jan 17.

Association of GABRB3 polymorphisms with autism spectrum disorders in Korean trios.

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1
Department of Pharmacology, School of Medicine, Eulji University, Daejeon, South Korea.

Abstract

BACKGROUND/AIMS:

Autism spectrum disorders (ASD) are complex neuropsychiatric disorders having a genetic risk factor. The association and linkage study for the gamma-aminobutyric acid type A receptor beta3 subunit gene (GABRB3), located within the chromosome 15q11-q13 autism candidate region, and ASD have been evaluated. The aim of this study was to investigate the association between GABRB3 and ASD in the Korean population.

METHODS:

The present study was conducted with the detection of four single-nucleotide polymorphisms (rs1426217, rs2081648, rs890317, rs981778) in GABRB3 and association analysis in 104 Korean ASD trios using the transmission disequilibrium test.

RESULTS:

The transmission disequilibrium test demonstrated that an allele at rs2081648 showed preferential transmission (p = 0.027). One haplotype, including all examined markers in GABRB3, demonstrated significant association (p = 0.043), but the global chi2 test for haplotype transmission did not reveal an association between GABRB3 and ASD (chi2 = 15.516, d.f. = 15).

CONCLUSION:

Our finding suggested that single-nucleotide polymorphisms in GABRB3 may play a significant role in the genetic predisposition to ASD in the Korean population.

PMID:
17230033
DOI:
10.1159/000098651
[Indexed for MEDLINE]
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