Polymorphisms in Glutamate Receptor, Ionotropic, N-methyl-D-aspartate 2B(GRIN2B) Genes of Autism Spectrum Disorders in Korean Population: Family-based Association Study

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.