A 2-base Pair Deletion Polymorphism in the Partial Duplication of the Alpha7 Nicotinic Acetylcholine Gene (CHRFAM7A) on Chromosome 15q14 is Associated with Schizophrenia

Overview

Journal Brain Res

Specialty Neurology

Date 2009 Jul 28

PMID 19631623

Citations 51

Authors

Melissa L Sinkus

Michael J Lee

Judith Gault

Judith Logel

Margaret Short

Robert Freedman

Susan L Christian

Jennifer Lyon

Sherry Leonard

Affiliations

Soon will be listed here.

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 alpha7 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.

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