title: Association of the 5'-upstream regulatory region of the alpha7 nicotinic acetylcholine receptor subunit gene (CHRNA7) with schizophrenia.
abstract: BACKGROUND
  The alpha7 neuronal nicotinic acetylcholine receptor subunit gene (CHRNA7) is localized in a chromosomal region (15q14) linked to schizophrenia in multiple independent studies. CHRNA7 was selected as the best candidate gene in the region for a well-documented endophenotype of schizophrenia, the P50 sensory processing deficit, by genetic linkage and biochemical studies.
  
  
  METHODS
  Subjects included Caucasian-Non Hispanic and African-American case-control subjects collected in Denver, and schizophrenic subjects from families in the NIMH Genetics Initiative on Schizophrenia. Thirty-five single nucleotide polymorphisms (SNPs) in the 5'-upstream regulatory region of CHRNA7 were genotyped for association with schizophrenia, and for smoking in schizophrenia.
  
  
  RESULTS
  The rs3087454 SNP, located at position -1831 bp in the upstream regulatory region of CHRNA7, was significantly associated with schizophrenia in the case-control samples after multiple-testing correction (P=0.0009, African American; P=0.013, Caucasian-Non Hispanic); the association was supported in family members. There was nominal association of this SNP with smoking in schizophrenia.
  
  
  CONCLUSIONS
  The data support association of regulatory region polymorphisms in the CHRNA7 gene with schizophrenia.
authors.affiliation: Department of Psychiatry, University of Colorado at Denver, United States.
authors.forename: Sarah H
authors.initials: SH
authors.lastname: Stephens
authors.forename: Judith
authors.initials: J
authors.lastname: Logel
authors.forename: Amanda
authors.initials: A
authors.lastname: Barton
authors.forename: Alexis
authors.initials: A
authors.lastname: Franks
authors.forename: Jessica
authors.initials: J
authors.lastname: Schultz
authors.forename: Margaret
authors.initials: M
authors.lastname: Short
authors.forename: Jane
authors.initials: J
authors.lastname: Dickenson
authors.forename: Benjamin
authors.initials: B
authors.lastname: James
authors.forename: Tasha E
authors.initials: TE
authors.lastname: Fingerlin
authors.forename: Brandie
authors.initials: B
authors.lastname: Wagner
authors.forename: Colin
authors.initials: C
authors.lastname: Hodgkinson
authors.forename: Sharon
authors.initials: S
authors.lastname: Graw
authors.forename: Randal G
authors.initials: RG
authors.lastname: Ross
authors.forename: Robert
authors.initials: R
authors.lastname: Freedman
authors.forename: Sherry
authors.initials: S
authors.lastname: Leonard
mesh_terms: D001741:Black or African American / Q000235:genetics; D016022:Case-Control Studies; D002460:Cell Line; D002874:Chromosome Mapping; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics; D005190:Family; D005260:Female; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D005838:Genotype; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011978:Receptors, Nicotinic / Q000235:genetics*; D012045:Regulatory Sequences, Nucleic Acid / Q000235:genetics*; D012559:Schizophrenia / Q000235:genetics*; D044465:White People / Q000235:genetics; D064569:alpha7 Nicotinic Acetylcholine Receptor
chemical_list: C579167:Chrna7 protein, human; D011978:Receptors, Nicotinic; D064569:alpha7 Nicotinic Acetylcholine Receptor