Journal
BRAIN RESEARCH
Volume 1291, Issue -, Pages 1-11Publisher
ELSEVIER
DOI: 10.1016/j.brainres.2009.07.041
Keywords
Nicotinic acetylcholine receptor; CHRFAM7A; CHRNA7; Association study; Deletion; Schizophrenia; Duplication; P50
Categories
Funding
- NIDA [DA094S7]
- NIMH [MH81177]
- Veterans Affairs Medical Research Service
- [T32 MH15442]
- [AA013973]
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Multiple genetic linkage studies support the hypothesis that the 15q13-14 chromosomal region contributes to the etiology of schizophrenia. Among the putative candidate genes in this area are the alpha 7 nicotinic acetylcholine receptor gene (CHRNA7) and its partial duplication, CHRFAM7A. A large chromosomal segment including the CHRFAM7A gene locus, but not the CHRNA7 locus, is deleted in some individuals. The CHRFAM7A gene contains a polymorphism consisting of a 2 base pair (2 bp) deletion at position 497-498 bp of exon 6. We employed PCR-based methods to quantify the copy number of CHRFAM7A and the presence of the 2 bp polymorphism in a large, multi-ethnic population. The 2 bp polymorphism was associated with schizophrenia in African Americans (genotype p = 0.005, allele p = 0.015), and in Caucasians (genotype p = 0.015, allele p = 0.009). we conclude that the presence of the 2 bp polymorphism at the CHRFAM7A locus may have a functional significance in schizophrenia. (C) 2009 Elsevier B.V. All rights reserved.
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