title: Common variants in SLC1A2 and schizophrenia: Association and cognitive function in patients with schizophrenia and healthy individuals.
abstract: SLC1A2 is reported to be responsible for the majority of glutamate uptake, which has a crucial role in neural development and synaptic plasticity, and a disturbance in glutamatergic transmission has been suggested to be involved in the pathophysiology of schizophrenia (SCZ) and cognition. To evaluate the relationship of common variants within SLC1A2 with SCZ and cognition in Han Chinese, 28 tag SNPs were genotyped in the discovery stage, which included 1117 cases and 2289 controls; significantly associated markers were genotyped in the replication stage with 2128 cases and 3865 controls. The rs4354668 SNP was identified to be significantly associated with SCZ in both datasets, and a similar pattern was also observed in the two-stage study on conducting imputation and haplotype association analyses. In addition, significant associations between the rs4354668 SNP and cognition were observed when processing the perseverative error of the Wisconsin Card Sorting Test in patients and controls. Our results provide supportive evidence for an effect of SLC1A2 on the etiology of SCZ, suggesting that genetic variation (rs4354668 and its haplotypes) in SLC1A2 may be involved in impaired executive function, which adds to the current body of knowledge regarding the risk of SCZ and the impairment of cognitive performance.
authors.affiliation: Department of Forensic Psychiatry, School of Medicine & Forensics, Xi'an Jiaotong University, Xi'an, China; Key Laboratory of National Ministry of Health for Forensic Sciences, School of Medicine & Forensics, Xi'an Jiaotong University, Xi'an, Shaanxi, China.
authors.forename: Bao
authors.initials: B
authors.lastname: Zhang
authors.affiliation: Department of Forensic Psychiatry, School of Medicine & Forensics, Xi'an Jiaotong University, Xi'an, China; Key Laboratory of Environment and Genes Related to Diseases, Ministry of Education, Xi'an, China; Institute of Human Genomics & Forensic Sciences, Xi'an, China. Electronic address: fanglingguan@163.com.
authors.forename: Fanglin
authors.initials: F
authors.lastname: Guan
authors.affiliation: Key Laboratory of National Ministry of Health for Forensic Sciences, School of Medicine & Forensics, Xi'an Jiaotong University, Xi'an, Shaanxi, China.
authors.forename: Gang
authors.initials: G
authors.lastname: Chen
authors.affiliation: Xi'an Mental Health Center, Xi'an, Shannxi, China.
authors.forename: Huali
authors.initials: H
authors.lastname: Lin
authors.affiliation: Department of Biology & Biomedical Sciences, Washington University in Saint Louis, MO, USA.
authors.forename: Tianxiao
authors.initials: T
authors.lastname: Zhang
authors.affiliation: School of Life Science and Technology, Xi'an Jiaotong University, Xi'an, Shaanxi, China.
authors.forename: Jiali
authors.initials: J
authors.lastname: Feng
authors.affiliation: Key Laboratory of National Ministry of Health for Forensic Sciences, School of Medicine & Forensics, Xi'an Jiaotong University, Xi'an, Shaanxi, China.
authors.forename: Lu
authors.initials: L
authors.lastname: Li
authors.affiliation: Key Laboratory of National Ministry of Health for Forensic Sciences, School of Medicine & Forensics, Xi'an Jiaotong University, Xi'an, Shaanxi, China; Institute of Human Genomics & Forensic Sciences, Xi'an, China.
authors.forename: Dongke
authors.initials: D
authors.lastname: Fu
mesh_terms: D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000235:genetics; D002681:China; D003071:Cognition; D066264:Datasets as Topic; D027342:Excitatory Amino Acid Transporter 2; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D060005:Genotyping Techniques; D050491:Glutamate Plasma Membrane Transport Proteins / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D008875:Middle Aged; D009483:Neuropsychological Tests; D020641:Polymorphism, Single Nucleotide; D012559:Schizophrenia / Q000235:genetics*; D012565:Schizophrenic Psychology; D055815:Young Adult
chemical_list: D027342:Excitatory Amino Acid Transporter 2; D050491:Glutamate Plasma Membrane Transport Proteins; C493397:SLC1A2 protein, human
keywords: Cognitive performance; Glutamate uptake; Perseverative errors; SLC1A2 gene; Schizophrenia susceptibility