Department of Clinical Laboratory, Affiliated Xiaoshan Hospital of Hangzhou Normal University, No. 728, Yucai North Road, Xiaoshan District, Hangzhou, 311202, China.
Department of Clinical Psychology, Xiaoshan First Affiliated Hospital of Hangzhou Normal University, Hangzhou, China.
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.
谷氨酸信号失衡与自闭症谱系障碍（ASD）的发展有关。本病例对照研究旨在探讨谷氨酸受体和载体基因中的单核苷酸多态性（SNPs），并确定其与中国汉族人群儿童 ASD 的相关性。在 249 名自闭症儿童和 353 名健康对照中，检测了编码谷氨酸受体（GRM7 和 GRM8）和载体（SLC1A1 和 SLC25A12）的 12 个基因中的 SNP。使用儿童自闭症评定量表（CARS）及其言语交流领域分别评估疾病严重程度和语言障碍程度。SLC25A12 基因中的 rs2292813 的 T 等位基因与 ASD 风险增加显著相关（比值比（OR）=1.7，95%置信区间（CI）：1.1-2.6，P=0.0107）。其他 SNPs 的基因型和等位基因分布均与 ASD 风险无关。值得注意的是，GRM8 基因中的 rs1800656 和 rs2237731 与语言障碍严重程度相关，但其他 SNPs 则没有。所有 SNPs 均与 ASD 的整体严重程度无关。我们的研究结果支持 SLC25A12 基因变异与儿童 ASD 风险之间的相关性，以及 GRM8 基因变异与中国汉族人群中语言障碍严重程度之间的相关性。
