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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.

SUBMITTER: Stephens SH 

PROVIDER: S-EPMC2748327 | biostudies-literature | 2009 Apr

REPOSITORIES: biostudies-literature

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Association of the 5'-upstream regulatory region of the alpha7 nicotinic acetylcholine receptor subunit gene (CHRNA7) with schizophrenia.

Stephens Sarah H SH   Logel Judith J   Barton Amanda A   Franks Alexis A   Schultz Jessica J   Short Margaret M   Dickenson Jane J   James Benjamin B   Fingerlin Tasha E TE   Wagner Brandie B   Hodgkinson Colin C   Graw Sharon S   Ross Randal G RG   Freedman Robert R   Leonard Sherry S  

Schizophrenia research 20090131 1-3


<h4>Background</h4>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.<h4>Methods</h4>Subjects included Caucasian-Non Hispanic and African-American case-control subjects collected  ...[more]

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