Title

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

Document Type

Article

Publication Date

2009

Abstract

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.

Publication Title

Brain research

Volume

1291

First Page

1

Last Page

11

Comments

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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