A 2-base pair deletion polymorphism in the partial duplication of the alpha7 nicotinic acetylcholine gene (CHRFAM7A) on chromosome 15q14 is associated with schizophrenia

Brain Res. 2009 Sep 29;1291:1-11. doi: 10.1016/j.brainres.2009.07.041. Epub 2009 Jul 23.


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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • African Americans / genetics
  • Alleles
  • Base Sequence
  • Blotting, Southern
  • Chromosomes, Human, Pair 15 / genetics*
  • European Continental Ancestry Group / genetics
  • Female
  • Gene Dosage
  • Genetic Predisposition to Disease
  • Genotype
  • Hispanic Americans / genetics
  • Humans
  • In Situ Hybridization, Fluorescence
  • Male
  • Patient Selection
  • Polymorphism, Genetic
  • Receptors, Nicotinic / genetics*
  • Reverse Transcriptase Polymerase Chain Reaction
  • Schizophrenia / ethnology
  • Schizophrenia / genetics*
  • Sequence Deletion / genetics*
  • alpha7 Nicotinic Acetylcholine Receptor


  • Chrna7 protein, human
  • Receptors, Nicotinic
  • alpha7 Nicotinic Acetylcholine Receptor