Korean J Biol Psychiatry.
2006 Nov;13(4):289-298.
Polymorphisms in Glutamate Receptor, Ionotropic, N-methyl-D-aspartate 2B(GRIN2B) Genes of Autism Spectrum Disorders in Korean Population: Family-based Association Study
- Affiliations
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- 1Department of Psychiatry, College of Medicine Seoul National University, Bundang Hospital, Seongnam, Korea.
- 2Department of Psychiatry, Gacheon Medical College, Incheon, Korea.
- 3Department of Biostatistics, School of Medicine, Eulji University, Daejeon, Korea.
- 4Department of Psychiatry, College of Medicine Ulsan University, Asan Medical Center, Seoul, Korea.
- 5Department of Pharmacology, School of Medicine, Eulji University, Daejeon, Korea. sakim@eulji.ac.kr
Abstract
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.
CONCLUSION
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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