Expanded trinucleotide repeats in the TBP/SCA17 gene mapped to chromosome 6q27 are associated with schizophrenia.
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.
Chen
Chiung-Mei
CM
Department of Neurology, Chang Gung Memorial Hospital and College of Medicine, Chang Gung University, Taipei 105, Taiwan.
Lane
Hsien-Yuan
HY
Wu
Yih-Ru
YR
Ro
Long-Sun
LS
Chen
Fen-Lin
FL
Hung
Wei-Ling
WL
Hou
Yi-Ting
YT
Lin
Cheng-Yueh
CY
Huang
Shu-Yi
SY
Chen
I-Cheng
IC
Soong
Bing-Wen
BW
Li
Ming-Liang
ML
Hsieh-Li
Hsiu-Mei
HM
Su
Ming-Tsan
MT
Lee-Chen
Guey-Jen
GJ
D000328:Adult; D044466:Asian People / Q000235:genetics; D002874:Chromosome Mapping; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D009419:Nerve Tissue Proteins / Q000235:genetics; D010749:Phosphoprotein Phosphatases / Q000235:genetics; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic / Q000235:genetics; D054648:Protein Phosphatase 2; D062085:RNA, Long Noncoding; D022661:RNA, Untranslated; D012559:Schizophrenia / Q000235:genetics*; D035381:TATA-Binding Protein Associated Factors / Q000235:genetics*; D019680:Trinucleotide Repeat Expansion / Q000235:genetics*
C415906:ATXN8OS gene product, human; D009419:Nerve Tissue Proteins; D062085:RNA, Long Noncoding; D022661:RNA, Untranslated; D035381:TATA-Binding Protein Associated Factors; C505936:PPP2R2B protein, human; D010749:Phosphoprotein Phosphatases; D054648:Protein Phosphatase 2