| Co-Investigator(Kenkyū-buntansha) |
IKEDA Kazuhiko Tokyo Metropolitan Organization for Medical Research, Tokyo Institute of Psychiatry, Dep. Schizophrenia Research, Senior Director, 東京都精神医学総合研究所, 参事研究員 (30124663)
YOSHIKAWA Takeo RIKEN, BSI, Lab. Molecular Psychiatry, Team Leader, チームリーダー(研究職) (30249958)
YAMADA Kazuo RIKEN, BSI, Lab. Molecular Psychiatry, Researcher, 研究員 (10322695)
IKEDA Kenji Tokyo Metropolitan Organization for Medical Research, Tokyo Institute of Psychiatry, Dep. Psychogeriatrics, Senior Director, 東京都精神医学総合研究所, 参事研究員 (90232181)
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| Research Abstract |
The PNUTL, GP1Bβ, WDR14 and TBX1,which are located on 22q11,were screened for detection of polymorphisms. A polimorphism in PNUTL,3 in GP1Bβ, 4 in WDR14,and 16 in TBX1 were detected. Case control studies of those variations were performed using 200 schizophrenia and 199 controls. Allelic frequencies of the -85C>G and 928G>A were significantly different between case and controls (P=0.0074,OR1.57,95%CI=1.08-2.32 for the -85C>G and P=0.019,OR=0.36,95%CI=0.04-0.77 for the 928G>A). Average of age of onset was significantly low in patients with -85G/G compared with that with -85C/C (P=0.05). Those data suggested that -85C>G may be involved in susceptibility for schizophrenia. We performed Wisconcin Card Sorting Test (WCST) with schisophrenics carrying -85C/C and -85G/G. Patients with -85G/G showed significantly high error score as compared with that with -85C/C. It was suggested that TBX1 gene may be genetic risk factor for predisposing to schizophrenia and involved in brain function of frontal cortex.
A schizophrenia having t(4p,13q)(16.1; 21.31) and sib pair with schizophrenia carrying inv(9)(p11,q13) were detected (Itokawa et al. Pshciatry Clin neurosci 2004). Cytogenetic analyses of parents of translocation showed no translocation and the patients is de novo translocation. The 4p16.1 is the locus of WFS1 gene for Wolfram syndrome, which shows psychotic symptoms in 60% of the cases. The 13q21.31 is also reported as the locus of susceptible reagion for schizophrenia. We are now performing FISH analysis for detection a gene in the break point on 4p16.1 or 13q21.31. The sib pair carrying inv(9)(p11,q13) are both schizophrenia and moreover are children who all suffer from schizophrenia. Their mother is also schizophrenia who died by renal failure 10 years ago. We are now investigating third child in order to check karyotype. If three children share inversion 9,we will follow up mother's family.
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