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Association of GABRB3 Polymorphisms with Autism Spectrum Disorders in Korean Trios

Kim S.A.a · Kim J.H.a · Park M.b · Cho I.H.c · Yoo H.J.d
aDepartment of Pharmacology, School of Medicine, bDivision of Biostatistics, School of Medicine, Eulji University, Daejeon, cDepartment of Neuropsychiatry, Gachon Medical School, Incheon, and dDepartment of Psychiatry, Seoul National University Bundang Hospital, Seongnam, South Korea Neuropsychobiology 2006;54:160–165 (DOI:10.1159/000098651)


Background/Aims: Autism spectrum disorders (ASD) are complex neuropsychiatric disorders having a genetic risk factor. The association and linkage study for the γ-aminobutyric acid type A receptor β3 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 χ2 test for haplotype transmission did not reveal an association between GABRB3 and ASD (χ2 = 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.


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