A pilot study on glutamate receptor and carrier gene variants and risk of childhood autism spectrum

Metab Brain Dis. 2023 Oct;38(7):2477-2488. doi: 10.1007/s11011-023-01272-w. Epub 2023 Aug 14.


Imbalanced glutamate signaling has been implicated in the development of autism spectrum disorder (ASD). This case-control study was to examine single nucleotide polymorphisms (SNPs) in glutamate receptor and carrier genes and determine their association with childhood ASD in a Chinese Han population. A total of 12 SNPs in genes encoding glutamate receptors (GRM7 and GRM8) and carriers (SLC1A1 and SLC25A12) were examined in 249 autistic children and 353 healthy controls. The Childhood Autism Rating Scale (CARS) and its verbal communication domain were applied to evaluate the severity of the disease and language impairment, respectively. 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). Neither the genotypes nor allele distributions of other SNPs were associated with the risk of ASD. Notably, rs1800656 and rs2237731 in the GRM8 gene, but not other SNPs, were related to the severity of language impairment. All SNPs were not correlated with the overall severity of ASD. Our findings support associations between the SLC25A12 gene variant and the risk of childhood ASD, and between the GRM8 gene variant and the severity of language impairment in the Chinese Han population.

Keywords: ASD; Chinese Han Population; GRM7; GRM8; Language impairment; SLC1A1; SLC25A12; SNP.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Autism Spectrum Disorder* / genetics
  • Autistic Disorder* / genetics
  • Case-Control Studies
  • Child
  • Genetic Predisposition to Disease / genetics
  • Humans
  • Language Development Disorders*
  • Pilot Projects
  • Polymorphism, Single Nucleotide / genetics
  • Receptors, Glutamate / genetics


  • Receptors, Glutamate