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KMID : 0605620060130040289
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Journal of Korean Society of Biological Psychiatry
2006 Volume.13 No. 4 p.289 ~ p.298
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Polymorphisms in Glutamate Receptor, Ionotropic,N-methyl-D-Aspartate 2B(GRIN2B) Gene of Autism Spectrum Disorders in Korean Population : Family-based Association study
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Yoo Hee-Jeong
Yoo Han-Ik
Cho In-Hee
Park Mi-Ra
Kim Jin-Hee
Kim Soon-Ae
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Abstract
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Objectives:Autism is a complex neurodevelopmental spectrum disorder with a strong genetic component. Previous neurochemical and genetic studies suggested the possible involvement of glutamate N-methyl-D-aspartate(NMDA) receptor in autism. The aim of study was to investigate the association between the NMDA2B receptor gene(GRIN2B) and autism spectrum disorders(ASD) in the Korean population.
Methods:The patients with ASD were diagnosed with Autism Diagnostic Interview-Revised and Autism Diagnostic Observation Schedule based on DSM-IV diagnostic classification. The present study was conducted with the detection of four single nucleotide polymorphisms(SNPs) in GRIK2 and family-based association analysis of the single nucleotide polymorphisms in Korean ASD trios using transmission disequilibrium test (TDT).
Results:One hundred twenty six patients with ASD and their biological parents were analyzed. 86.5% were male and 85.1% were diagnosed as autistic disorder. The mean age was 71.9+/-31.6 months(range : 26-185 months). We found that rs1805247 showed significantly preferential transmission(TDT chi-square=12.8, p < 0.001) in ASD.
Conclusions:One SNP in GRIN2B gene was significantly associated with ASD in the Korean population. This result suggests the possible involvement of glutamate NMDA receptor gene in the development of ASD.
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KEYWORD
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Autism spectrum disorders, Transmission disequilibrium Test(TDT), Glutamate NMDA receptor
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