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

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• 作者：Hee Jeong Yoo^a ; In Hee Cho^b ; Mira Park^c ; So Young Yang^d ; Soon Ae Kim^d ; ^{sakim@eulji.ac.kr}
• 关键词：Autism spectrum disorders (ASDs) ; Single nucleotide polymorphisms (SNPs) ; Glutamate receptor ; ionotropic ; N-methyl-d-aspartate ; subunit 2B GRIN gene (GRIN2B) ; Family-based association study
• 刊名：Neuroscience Letters
• 出版年：2012
• 期刊代码：52_03043940
• 类别：neu
• 出版时间：23 March, 2012
• 卷：512
• 期：2
• 页码：89-93
• 文件大小：202 K

摘要

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.