Association of the DTNBP1 locus with schizophrenia in a U.S. population

Am J Hum Genet. 2004 Nov;75(5):891-8. doi: 10.1086/425279. Epub 2004 Sep 10.


Linkage and association studies have recently implicated dystrobrevin-binding protein 1 (DTNBP1) in the etiology of schizophrenia. We analyzed seven previously tested DTNBP1 single-nucleotide polymorphisms (SNPs) in a cohort of 524 individuals with schizophrenia or schizoaffective disorder and 573 control subjects. The minor alleles of three SNPs (P1578, P1763, and P1765) were positively associated with the diagnosis of schizophrenia or schizoaffective disorder in the white subset of the study cohort (258 cases, 467 controls), with P1578 showing the most significant association (odds ratio 1.76, P =.0026). The same three SNPs were also associated in a smaller Hispanic subset (51 cases, 32 controls). No association was observed in the African American subset (215 cases, 74 controls). A stratified analysis of the white and Hispanic subsets showed association with the minor alleles of four SNPs (P1578, P1763, P1320, and P1765). Again, the most significant association was observed for P1578 (P =.0006). Haplotype analysis supported these findings, with a single risk haplotype significantly overrepresented in the white sample (P =.005). Our study provides further evidence for a role of the DTNBP1 gene in the genetic etiology of schizophrenia.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Black or African American / genetics
  • Carrier Proteins / genetics*
  • Dysbindin
  • Dystrophin-Associated Proteins
  • Gene Frequency
  • Genetic Linkage / genetics*
  • Genotype
  • Haplotypes / genetics*
  • Hispanic or Latino / genetics
  • Humans
  • Linkage Disequilibrium
  • Mass Spectrometry
  • Polymorphism, Single Nucleotide / genetics
  • Schizophrenia / genetics*
  • United States
  • White People / genetics


  • Carrier Proteins
  • DTNBP1 protein, human
  • Dysbindin
  • Dystrophin-Associated Proteins