Association of the 5 '-upstream regulatory region of the alpha 7 nicotinic acetylcholine receptor subunit gene (CHRNA7) with schizophrenia

作者：Stephens Sarah H; Logel Judith; Barton Amanda; Franks Alexis; Schultz Jessica; Short Margaret; Dickenson Jane; James Benjamin; Fingerlin Tasha E; Wagner Brandie; Hodgkinson Colin; Graw Sharon; Ross Randal G; Freedman Robert; Leonard Sherry^*

来源：Schizophrenia Research, 2009, 109(1-3): 102-112.

DOI：10.1016/j.schres.2008.12.017

• Nicotinic receptor
• Schizophrenia
• Polymorphism
• Association
• Sensory Processing
• Alpha 7 nicotinic receptor
• Regulatory region
• Promoter

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.

• 出版日期2009-4