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

• Published in: Schizophrenia research Vol. 78; no. 2; pp. 131 - 136
• Main Authors: Chen, Chiung-Mei, Lane, Hsien-Yuan, Wu, Yih-Ru, Ro, Long-Sun, Chen, Fen-Lin, Hung, Wei-Ling, Hou, Yi-Ting, Lin, Cheng-Yueh, Huang, Shu-Yi, Chen, I-Cheng, Soong, Bing-Wen, Li, Ming-Liang, Hsieh-Li, Hsiu-Mei, Su, Ming-Tsan, Lee-Chen, Guey-Jen
• Format: Journal Article
• Language: English
• Published: Amsterdam Elsevier B.V 15.10.2005; Elsevier Science
• Subjects: Adult; Adult and adolescent clinical studies; Asian Continental Ancestry Group - genetics; Biological and medical sciences; Chromosome Mapping; Chromosomes, Human, Pair 6 - genetics; Female; Humans; KLHL1AS/SCA8; Male; Medical sciences; Nerve Tissue Proteins - genetics; Phosphoprotein Phosphatases - genetics; Polymerase Chain Reaction; Polymorphism, Genetic - genetics; PPP2R2B/SCA12; Protein Phosphatase 2; Psychology. Psychoanalysis. Psychiatry; Psychopathology. Psychiatry; Psychoses; RNA, Long Noncoding; RNA, Untranslated; Schizophrenia; Schizophrenia - genetics; TATA-Binding Protein Associated Factors - genetics; TBP/SCA17; Trinucleotide Repeat Expansion - genetics; Trinucleotide repeats; Schizophrenia; Trinucleotide repeats; TBP/SCA17; KLHL1AS/SCA8; PPP2R2B/SCA12; Human; Trinucleotide; Chromosome C6; Psychosis; Binding protein; Gene; Repetition; Polymorphism
• ISSN: 0920-9964; 1573-2509
• DOI: 10.1016/j.schres.2005.06.018

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.