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Family‐based association study between autism and glutamate receptor 6 gene in Chinese Han trios

American Journal of Medical Genetics Part B Neuropsychiatric GeneticsPublished 18 August 2004
Shuang Mei, Jing Liu, Mei Xiang Jia, Jian Yang, Su Wu, Xiao Hong Gong
Citations104
SJR quartileQ2
SJR score0.66
SNIP0.63

TL;DR

The results suggested that GluR6 is in linkage disequilibrium with autism, and the two SNPs (SNP2 and SNP3) showed preferential transmission.

Abstract

The glutamate pathways are involved in diverse processes such as learning and memory, epilepsy, and they play important roles in neural plasticity, neural development, and neurodegeneration. It has been proposed that autism could be a hypoglutamatergic disorder. Recently, Jamain et al. reported that the glutamate receptor 6 (GluR6 or GRIK2) is in linkage disequilibrium with autism. In the present study, the transmission disequilibrium test (TDT) and the haplotype transmission were performed to analyze the four SNPs (SNP1: rs995640; SNP2: rs2227281; SNP3: rs2227283; SNP4: rs2235076) of GluR6 in 174 Chinese Han parent-offspring trios. The TDT demonstrated that the two SNPs (SNP2 and SNP3) showed preferential transmission (TDT P = 0.032). The global chi(2) test for haplotype transmission also revealed an association between GluR6 and autism (chi(2) = 10.78, df = 3, P = 0.013). Our results suggested that GluR6 is in linkage disequilibrium with autism.

Keywords

NeuroscienceBiochemistry, Genetics and Molecular Biology