A 2-base pair deletion polymorphism in the partial duplication of the a7 nicotinic acetylcholine gene (CHRFAM7A) on chromosome 15q14 is associated with schizophrenia

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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 a7 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. © 2009 Elsevier B.V. All rights reserved.

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Brain research



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This article was published in Brain research, Volume 1291, Issue , Pages 1-11.

The published version is available at http://dx.doi.org/10.1016/j.brainres.2009.07.041.

Copyright © 2009 Elsevier.

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