title: A polymorphism in the PDLIM5 gene associated with gene expression and schizophrenia.
abstract: BACKGROUND
  Results of recent DNA microarray analyses of postmortem brains of patients with schizophrenia revealed that expression of the PDZ and LIM domain 5 gene (PDLIM5) is increased. In the present study, we examined whether polymorphisms in PDLIM5 are associated with schizophrenia.
  
  
  METHODS
  We screened for mutations in PDLIM5 in 24 Japanese patients with schizophrenia and evaluated the associations of the identified polymorphisms with schizophrenia in a Japanese case-control population (total samples, 278 schizophrenia patients and 462 control subjects). Expression of PDLIM5 was quantified by real-time quantitative polymerase chain reaction (PCR) in postmortem prefrontal cortex of 34 schizophrenia patients. Electrophoretic mobility shift assay (EMSA) was performed to examine whether a polymorphism influences nuclear protein binding.
  
  
  RESULTS
  We identified 27 polymorphisms in PDLIM5 and found associations between polymorphisms (rs2433320 and rs2433322) in the 5' region of the gene and schizophrenia (p = .004). Real-time quantitative PCR revealed that these polymorphisms influenced gene expression (p = .007). An EMSA showed that the different alleles of the rs2433320 polymorphism bound differently to nuclear proteins.
  
  
  CONCLUSIONS
  These results suggest that PDLIM5 might play a role in genetic susceptibility to schizophrenia.
authors.affiliation: Department of Medical Genetics, Graduate School of Comprehensive Human Sciences, University of Tsukuba, Tsukuba, Ibaraki, Japan.
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: Shyuji
authors.initials: S
authors.lastname: Iritani
authors.forename: Emiko
authors.initials: E
authors.lastname: Noguchi
authors.forename: Tsuyuka
authors.initials: T
authors.lastname: Ohtsuki
authors.forename: Minori
authors.initials: M
authors.lastname: Koga
authors.forename: Tadafumi
authors.initials: T
authors.lastname: Kato
authors.forename: Masanari
authors.initials: M
authors.lastname: Itokawa
authors.forename: Tadao
authors.initials: T
authors.lastname: Arinami
mesh_terms: D000328:Adult; D000368:Aged; D000483:Alleles; D016022:Case-Control Studies; D004252:DNA Mutational Analysis; D000076122:Disks Large Homolog 4 Protein; D005260:Female; D015870:Gene Expression / Q000502:physiology*; D005787:Gene Frequency / Q000235:genetics; D005819:Genetic Markers / Q000235:genetics; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D060850:LIM-Homeodomain Proteins; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D009419:Nerve Tissue Proteins / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D017397:Prefrontal Cortex / Q000473:pathology; D012559:Schizophrenia / Q000235:genetics*; D014157:Transcription Factors
chemical_list: C501444:DLG4 protein, human; D000076122:Disks Large Homolog 4 Protein; D005819:Genetic Markers; D018398:Homeodomain Proteins; D047908:Intracellular Signaling Peptides and Proteins; C491186:LHX5 protein, human; D060850:LIM-Homeodomain Proteins; D008565:Membrane Proteins; D009419:Nerve Tissue Proteins; D014157:Transcription Factors