A Study of Genetic Variants in Genes of Glutamate Signaling and Risk of Childhood Autism Spectrum Disorder

Abstract Background: Dysfunction of glutamate signaling has been implicated in the etiology of autism spectrum disorder (ASD). This case-control study was to examine the association between childhood ASD and single nucleotide polymorphisms (SNPs) in genes of the glutamate signaling pathway in a Chinese Han population. Methods: A total of 12 SNPs in the SLC1A1, SLC25A12, GRM7 and GRM8 genes were examined. The Children Autism Rating Scale (CARS) was applied to evaluate the severity of the disease. The relationship between SNPs and the risk of ASD or the severity of the disease was determined by logistic regression. Results: The T allele of rs2292813 in the SLC25A12 gene was significantly associated with an increased risk of ASD (odds ratio (OD) =1.7, 95% confidence interval (CI): 1.1-2.6, P =0.0107). Other examined SNPs were not associated with the risk of ASD. None of the SNPs examined were associated with the severity of ASD. Conclusions: Our findings support the involvement of SNPs in the SLC25A12 gene, but not SNPs in the SLC1A1, GRM7 and DRM8 genes, in the development of childhood ASD in the Chinese Han population.