Department of Psychiatry, Shandong Mental Health Center, Shandong University, No. 49 Wenhua Dong Road, Lixia District, Jinan, 250014, Shandong, China.
BMC Psychiatry. 2022 Mar 8;22(1):171. doi: 10.1186/s12888-022-03799-1.
Recent studies have shown that the excitatory amino acid transporters (EAATs) are associated with schizophrenia. The aim of this study was to investigate the relationship between the polymorphism of EAAT1 and EAAT2 genes and schizophrenia in Chinese Han population.
A total of 233 patients with schizophrenia and 342 healthy controls were enrolled. Two SNPs in EAAT1 gene (rs2269272, rs2731880) and four SNPs in EAAT2 gene (rs12360706, rs3088168, rs12294045, rs10836387) were genotyped by SNaPshot. Clinical features were collected using a self-made questionnaire. Psychotic symptoms of patients were measured by the Positive and Negative Syndrome Scale (PANSS), and patients' cognitive function was assessed by Matrics Consensus Cognitive Battery (MCCB).
Significant difference in allelic distributions between cases and controls was confirmed at locus rs12294045 (Ρ = 0.004) of EAAT2 gene. Different genotypes of rs12294045 were associated with family history (P = 0.046), in which patients with CT genotype had higher proportion of family history of psychosis. The polymorphism of rs12294045 was related to working operational memory (LNS: P = 0.016) and verbal learning function (HVLT-R: P = 0.042) in patients in which CT genotype had lower scores. However, these differences were no longer significant after Bonferroni correction.
Our study showed that the polymorphism of rs12294045 in EAAT2 gene may be associated with schizophrenia in Chinese Han population. CT genotype may be one of the risk factors for family history and cognitive deficits of patients.
最近的研究表明，兴奋性氨基酸转运体（EAATs）与精神分裂症有关。本研究旨在探讨中国汉族人群 EAAT1 和 EAAT2 基因多态性与精神分裂症的关系。
共纳入 233 例精神分裂症患者和 342 例健康对照者。EAAT1 基因(rs2269272、rs2731880)中的 2 个 SNP 和 EAAT2 基因(rs12360706、rs3088168、rs12294045、rs10836387)中的 4 个 SNP 采用 SNaPshot 法进行基因分型。采用自制问卷收集临床特征。采用阳性和阴性症状量表（PANSS）评估患者的精神病症状，采用 Matrics 共识认知电池（MCCB）评估患者的认知功能。
在 EAAT2 基因座 rs12294045 处证实了病例组和对照组之间等位基因分布的显著差异（Ρ = 0.004）。rs12294045 的不同基因型与家族史有关（P = 0.046），其中 CT 基因型患者有更高比例的精神病家族史。rs12294045 的多态性与患者的工作操作记忆（LNS：P = 0.016）和言语学习功能（HVLT-R：P = 0.042）有关，其中 CT 基因型的得分较低。然而，经过 Bonferroni 校正后，这些差异不再显著。
本研究表明，EAAT2 基因 rs12294045 多态性可能与中国汉族人群的精神分裂症有关。CT 基因型可能是患者家族史和认知缺陷的危险因素之一。
