title: A polymorphism of the metabotropic glutamate receptor mGluR7 (GRM7) gene is associated with schizophrenia.
abstract: BACKGROUND
  Glutamate dysfunction has been implicated in the pathophysiology of schizophrenia. The metabotropic glutamate receptors (mGluRs) are G-protein-coupled receptors. GRM7, the gene that encodes mGluR7, is expressed in many regions of the human central nervous system. The GRM7 gene is located on human chromosome 3p26, which has been suggested by linkage analysis to contain a susceptibility locus for schizophrenia.
  
  
  METHODS
  We screened for mutations in all exons, exon/intron junctions, and promoter regions of the GRM7 gene in Japanese patients with schizophrenia and evaluated associations between the detected polymorphisms and schizophrenia. We examined the influence of one polymorphism associated with schizophrenia on the expression of GRM7 by dual-luciferase assay in transfected cells.
  
  
  RESULTS
  Twenty-five polymorphisms/mutations were detected in GRM7. Case-control analysis revealed a potential association of a synonymous polymorphism (371T/C, rs3749380) in exon 1 with schizophrenia in our case-control study of 2293 Japanese patients with schizophrenia and 2382 Japanese control subjects (allelic p=0.009). Dual-luciferase assay revealed suppression of transcription activity by exon 1 containing this polymorphism and a statistically significant difference in the promoter activity between the T and C alleles.
  
  
  CONCLUSIONS
  Our results support the possible association of a GRM7 gene polymorphism with genetic susceptibility to schizophrenia.
authors.affiliation: Department of Medical Genetics, Graduate School of Comprehensive Human Sciences, University of Tsukuba, Tsukuba, Ibaraki 305-8577, Japan.
authors.forename: Tsuyuka
authors.initials: T
authors.lastname: Ohtsuki
authors.forename: Minori
authors.initials: M
authors.lastname: Koga
authors.forename: Hiroki
authors.initials: H
authors.lastname: Ishiguro
authors.forename: Yasue
authors.initials: Y
authors.lastname: Horiuchi
authors.forename: Makoto
authors.initials: M
authors.lastname: Arai
authors.forename: Kazuhiro
authors.initials: K
authors.lastname: Niizato
authors.forename: Masanari
authors.initials: M
authors.lastname: Itokawa
authors.forename: Toshiya
authors.initials: T
authors.lastname: Inada
authors.forename: Nakao
authors.initials: N
authors.lastname: Iwata
authors.forename: Shyuji
authors.initials: S
authors.lastname: Iritani
authors.forename: Norio
authors.initials: N
authors.lastname: Ozaki
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Kunugi
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Ujike
authors.forename: Yuichiro
authors.initials: Y
authors.lastname: Watanabe
authors.forename: Toshiuki
authors.initials: T
authors.lastname: Someya
authors.forename: Tadao
authors.initials: T
authors.lastname: Arinami
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic / Q000235:genetics*; D018094:Receptors, Metabotropic Glutamate / Q000235:genetics*; D012559:Schizophrenia / Q000235:genetics*
chemical_list: D018094:Receptors, Metabotropic Glutamate; C102719:metabotropic glutamate receptor 7