title: Association between a novel polymorphism in the promoter region of the neuropeptide Y gene and schizophrenia in humans.
abstract: Hypoactivity of neuropeptide Y (NPY) is thought to be involved in the pathophysiology of schizophrenia, because post-mortem brain studies revealed a decrease of the NPY in schizophrenia, and antipsychotic treatments increase the NPY in animal brains and in cerebrospinal fluid of patients. We performed genetic analysis of the NPY gene in schizophrenia. Mutation screening of the gene detected nine single nucleotide polymorphisms, of which we typed a -485C>T variation from potential functional relevance. The -485T allele was overly represented in the disease group (P=0.0043). An in vitro promoter assay revealed that a C to T change at nt -485 significantly reduced transcriptional activity. These results suggest that the -485T allele in NPY may confer susceptibility to schizophrenia by decreasing the neuropeptide in brains.
authors.affiliation: Department of Schizophrenia Research, Tokyo Institute of Psychiatry, 2-1-8 Kamikitazawa, Setagaya, 156-8585, Tokyo, Japan. mitokawa@prit.go.jp
authors.forename: Masanari
authors.initials: M
authors.lastname: Itokawa
authors.forename: Makoto
authors.initials: M
authors.lastname: Arai
authors.forename: Shuhei
authors.initials: S
authors.lastname: Kato
authors.forename: Yoko
authors.initials: Y
authors.lastname: Ogata
authors.forename: Aizo
authors.initials: A
authors.lastname: Furukawa
authors.forename: Seiichi
authors.initials: S
authors.lastname: Haga
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Ujike
authors.forename: Ichiro
authors.initials: I
authors.lastname: Sora
authors.forename: Kazuhiko
authors.initials: K
authors.lastname: Ikeda
authors.forename: Takeo
authors.initials: T
authors.lastname: Yoshikawa
mesh_terms: D020022:Genetic Predisposition to Disease; D006801:Humans; D009478:Neuropeptide Y / Q000235:genetics*; D011110:Polymorphism, Genetic; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D012559:Schizophrenia / Q000235:genetics*
chemical_list: D009478:Neuropeptide Y