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

Chiung Mei Chen, Hsien Yuan Lane, Yih Ru Wu, Long Sun Ro, Fen Lin Chen, Wei Ling Hung, Yi Ting Hou, Cheng Yueh Lin, Shu Yi Huang, I. Cheng Chen, Bing Wen Soong, Ming Liang Li, Hsiu Mei Hsieh-Li, Ming Tsan Su, Guey Jen Lee-Chen

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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.

Original languageEnglish
Pages (from-to)131-136
Number of pages6
JournalSchizophrenia Research
Volume78
Issue number2-3
DOIs
Publication statusPublished - 2005 Oct 15

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Keywords

  • KLHL1AS/SCA8
  • PPP2R2B/SCA12
  • Schizophrenia
  • TBP/SCA17
  • Trinucleotide repeats

ASJC Scopus subject areas

  • Psychiatry and Mental health
  • Biological Psychiatry

Cite this

Chen, C. M., Lane, H. Y., Wu, Y. R., Ro, L. S., Chen, F. L., Hung, W. L., Hou, Y. T., Lin, C. Y., Huang, S. Y., Chen, I. C., Soong, B. W., Li, M. L., Hsieh-Li, H. M., Su, M. T., & Lee-Chen, G. J. (2005). Expanded trinucleotide repeats in the TBP/SCA17 gene mapped to chromosome 6q27 are associated with schizophrenia. Schizophrenia Research, 78(2-3), 131-136. https://doi.org/10.1016/j.schres.2005.06.018