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Background 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. Methods 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). Results 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. Conclusions 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.

Polymorphism of rs12294045 in EAAT2 gene is potentially associated with schizophrenia in Chinese Han population