Association of the 5′-upstream regulatory region of the α7 nicotinic acetylcholine receptor subunit gene (CHRNA7) with schizophrenia

SCHIZOPHRENIA RESEARCH

卷:109

Article

Stephens, Sarah H.¹  Logel, Judith¹  Barton, Amanda¹  Franks, Alexis¹  Schultz, Jessica¹  Short, Margaret¹  Dickenson, Jane¹  James, Benjamin¹  Fingerlin, Tasha E.²  Wagner, Brandie²  Hodgkinson, Colin⁴  Graw, Sharon¹  Ross, Randal G.¹  Freedman, Robert^1,3  Leonard, Sherry^1,3 

[1] Univ Colorado Denver, Dept Psychiat, Aurora, CO 80045 USA

[2] Univ Colorado Denver, Dept Prevent Med & Biometr, Aurora, CO 80045 USA

[3] Vet Affairs Med Res Ctr, Denver, CO 80045 USA

[4] NIAAA, NIH, Rockville, MD 20852 USA

关键词: Nicotinic receptor;    Schizophrenia;    Polymorphism;    Association;    Sensory Processing;    Alpha 7 nicotinic receptor;    Regulatory region;    Promoter;   

DOI  :  10.1016/j.schres.2008.12.017

来源: Elsevier

【 摘 要 】

Background: The alpha 7 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. Published by Elsevier B.V.

【 授权许可】

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