Family based association of GRIN2A and GRIN2B with Korean autism spectrum disorders

N-Methyl-d-aspartate (NMDA) receptor, one of the glutamate receptors, has a role in the regulation of synaptic activity. It functions as an ion channel in the central nervous system and its inappropriate activation has been implicated in several neurological conditions. To test the association between candidate genes related with NMDA receptors and autism spectrum disorders (ASDs), we examined single nucleotide polymorphisms (SNPs) for GRIN2A and GRIN2B by using the family-based association test (FBAT) in 151 Korean trios. There was a statistically significant associations between ASDs and haplotypes in GRIN2B (bi-allelic mode additive model P-value = 0.003; FDR P-value = 0.012). This study supports a possible role of GRIN2B as a candidate gene for the etiology of ASDs.

► The associations between SNPs in GRIN2A/GRIN2B gene and Korean ASD were examined.
► There are associations between ASDs and haplotypes of GRIN2B in FBAT.
► GRIN2B may have a possible role in the etiology of ASDs.