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.
        
Related information
Citations formats
Stephens SH, Logel J, Barton A, Franks A, Schultz J, Short M, Dickenson J, James B, Fingerlin TE, Wagner B, Hodgkinson C, Graw S, Ross RG, Freedman R, Leonard S (2009) Association of the 5'-upstream regulatory region of the alpha7 nicotinic acetylcholine receptor subunit gene (CHRNA7) with schizophrenia Schizophr Res109: 102-12
Stephens SH, Logel J, Barton A, Franks A, Schultz J, Short M, Dickenson J, James B, Fingerlin TE, Wagner B, Hodgkinson C, Graw S, Ross RG, Freedman R, Leonard S (2009) Schizophr Res109: 102-12