Expanded trinucleotide repeats in the TBP/SCA17 gene mapped to chromosome 6q27 are associated with schizophrenia

Schizophr Res. 2005 Oct 15;78(2-3):131-6. doi: 10.1016/j.schres.2005.06.018.

Abstract

Schizophrenia has a complex and non-Mendelian mode of inheritance. Recently, trinucleotide repeat (TNR)-containing genes have been considered as the candidate genes predisposing to schizophrenia. The purpose of this study was to determine whether a genetic association could be observed between schizophrenia and the TNR polymorphisms within the KLHL1AS/SCA8, PPP2R2B/SCA12, and TBP/SCA17 genes. We studied 100 unrelated schizophrenia patients and 124 controls without evident neurodegenerative or psychiatric disorders. The overall allele frequency distributions of the KLHL1AS/SCA8 and PPP2R2B/SCA12 genes were not significantly different between the schizophrenic patients and the control subjects (P>0.05). The allele frequency distribution in the schizophrenic patients was significantly different from that in the controls at the TBP/SCA17 gene (P=0.0149), with an increased frequency of 36 repeats in the patients and two patients carrying 45 TNR expansions were identified. TBP/SCA17 is the TATA box binding protein gene mapped to chromosome 6q27. The study suggests that TNR expansions of the TBP/SCA17 gene may contribute to the genetic risk of schizophrenia in rare cases.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Asian People / genetics
  • Chromosome Mapping
  • Chromosomes, Human, Pair 6 / genetics*
  • Female
  • Humans
  • Male
  • Nerve Tissue Proteins / genetics
  • Phosphoprotein Phosphatases / genetics
  • Polymerase Chain Reaction
  • Polymorphism, Genetic / genetics
  • Protein Phosphatase 2
  • RNA, Long Noncoding
  • RNA, Untranslated
  • Schizophrenia / genetics*
  • TATA-Binding Protein Associated Factors / genetics*
  • Trinucleotide Repeat Expansion / genetics*

Substances

  • ATXN8OS gene product, human
  • Nerve Tissue Proteins
  • RNA, Long Noncoding
  • RNA, Untranslated
  • TATA-Binding Protein Associated Factors
  • PPP2R2B protein, human
  • Phosphoprotein Phosphatases
  • Protein Phosphatase 2