title: A 2-base pair deletion polymorphism in the partial duplication of the alpha7 nicotinic acetylcholine gene (CHRFAM7A) on chromosome 15q14 is associated with schizophrenia.
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.
authors.affiliation: Department of Psychiatry, University of Colorado at Denver, Denver, CO 80045, USA.
authors.forename: Melissa L
authors.initials: ML
authors.lastname: Sinkus
authors.forename: Michael J
authors.initials: MJ
authors.lastname: Lee
authors.forename: Judith
authors.initials: J
authors.lastname: Gault
authors.forename: Judith
authors.initials: J
authors.lastname: Logel
authors.forename: Margaret
authors.initials: M
authors.lastname: Short
authors.forename: Robert
authors.initials: R
authors.lastname: Freedman
authors.forename: Susan L
authors.initials: SL
authors.lastname: Christian
authors.forename: Jennifer
authors.initials: J
authors.lastname: Lyon
authors.forename: Sherry
authors.initials: S
authors.lastname: Leonard
mesh_terms: D001741:Black or African American / Q000235:genetics; D000483:Alleles; D001483:Base Sequence; D015139:Blotting, Southern; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D005260:Female; D018628:Gene Dosage; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006630:Hispanic or Latino / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D018579:Patient Selection; D011110:Polymorphism, Genetic; D011978:Receptors, Nicotinic / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D012559:Schizophrenia / Q000208:ethnology / Q000235:genetics*; D017384:Sequence Deletion / Q000235:genetics*; D044465:White People / Q000235:genetics; D064569:alpha7 Nicotinic Acetylcholine Receptor
chemical_list: C579167:Chrna7 protein, human; D011978:Receptors, Nicotinic; D064569:alpha7 Nicotinic Acetylcholine Receptor