Genetic variation in the 6p22.3 gene DTNBP1, the human ortholog of the mouse dysbindin gene, is associated with schizophrenia

Richard E Straub, Yuxin Jiang, Charles J MacLean, Yunlong Ma, Bradley T Webb, Maxim V Myakishev, Carole Harris-Kerr, Brandon Wormley, Hannah Sadek, Bharat Kadambi, Anthony J Cesare, Avi Gibberman, Xu Wang, F Anthony O'Neill, Dermot Walsh, Kenneth S Kendler

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691 Citations (Scopus)

Abstract

Prior evidence has supported the existence of multiple susceptibility genes for schizophrenia. Multipoint linkage analysis of the 270 Irish high-density pedigrees that we have studied, as well as results from several other samples, suggest that at least one such gene is located in region 6p24-21. In the present study, family-based association analysis of 36 simple sequence-length-polymorphism markers and of 17 SNP markers implicated two regions, separated by approximately 7 Mb. The first region, and the focus of this report, is 6p22.3. In this region, single-nucleotide polymorphisms within the 140-kb gene DTNBP1 (dystrobrevin-binding protein 1, or dysbindin) are strongly associated with schizophrenia. Uncorrected, empirical P values produced by the program TRANSMIT were significant (P
Original languageEnglish
Pages (from-to)337-48
Number of pages12
JournalThe American Journal of Human Genetics
Volume71
Issue number2
DOIs
Publication statusPublished - Aug 2002

Keywords

  • Animals
  • Carrier Proteins
  • Chromosome Mapping
  • Chromosomes, Human, Pair 6
  • Female
  • Genetic Markers
  • Haplotypes
  • Humans
  • Male
  • Mice
  • Pedigree
  • Polymorphism, Single Nucleotide
  • Schizophrenia

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