NOTCH4 gene polymorphism and susceptibility to schizophrenia and schizoaffective disorder

Hiroshi Ujike, Yasushi Takehisa, Manabu Takaki, Yuji Tanaka, Kenji Nakata, Toshihiko Takeda, Masafumi Kodama, Yutaka Fujiwara, Ayako Yamamoto, Shigetoshi Kuroda

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46 Citations (Scopus)


The NOTCH4 gene is located at 6p21.3, a site which several studies have shown to have significant linkage with schizophrenia. Recently, an exceptionally strong association was reported between NOTCH4 gene polymorphisms and schizophrenia in British patients. We re-examined their findings using a Japanese population. We genotyped three kinds of polymorphisms, SNP1 in the 5′ flanking region, SNP2 in the promoter region and CTG repeats in exon 1 of the NOTCH4 gene of schizophrenics (N = 188), patients with schizoaffective disorder (N = 39) and controls (N = 143). Genotypic distributions and allelic frequencies of SNP1, SNP2 and CTG repeats of the NOTCH4 gene did not show significant associations with schizophrenia or schizoaffective disorder. Neither they showed association with schizophrenia subcategories, hebephrenic and paranoid type schizophrenia, nor with subgroups of schizophrenia with and without positive family history of psychoses. The present study found that the NOTCH4 gene does not confer susceptibility to schizophrenia and schizoaffective disorders, at least in Japanese subjects, in contrast to the findings in British subjects.

Original languageEnglish
Pages (from-to)41-44
Number of pages4
JournalNeuroscience Letters
Issue number1
Publication statusPublished - Mar 23 2001


  • Association study
  • Japanese
  • NOTCH4 gene
  • Schizoaffective disorder
  • Schizophrenia

ASJC Scopus subject areas

  • Neuroscience(all)


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