Association of six polymorphisms of the NOTCH4 gene with schizophrenia in the Japanese population

Mamoru Tochigi, Xuan Zhang, Tadashi Umekage, Jun Ohashi, Chieko Kato, Tetsuya Marui, Takeshi Otowa, Hiroyuki Hibino, Toshiyuki Otani, Kazuhisa Kohda, Shuzheng Liu, Nobumasa Kato, Katsushi Tokunaga, Tsukasa Sasaki

Research output: Contribution to journalArticlepeer-review

13 Citations (Scopus)


The NOTCH4 gene is located at 6p21.3 and involved in the development and patterning of the central nervous systems. Recently, Wei and Hemmings [2000] observed that the gene was associated with schizophrenia. Subsequent to the report, several studies investigated the gene in schizophrenia, with controversial and inconclusive results. In the present study, we investigated six polymorphisms (SNPs 1-5 and a CTG repeat) of the gene in Japanese subjects with schizophrenia (n = 284) and the same number of controls. The polymorphisms include SNP5, which has been observed to be associated with schizophrenia in a Chinese population and two new SNPs 3-4 adjacent to SNP5, in addition to the SNPs 1-2 and the CTG repeat, which were suggested for the association with the disease in the previous study. As a result, no significant difference in genotypic distributions or allelic frequencies of the six polymorphisms of the gene was observed between the patients and the controls. Also, no significant difference was found in frequencies of haplotypes of the six polymorphisms between the patients and the controls. However, the distribution of SNP2 was significantly deviated from Hardy-Weinberg equilibrium in the patients (P = 0.000986), not in the controls, which could be a chance or due to an association of SNP2 with the disease. In conclusion, the present study provided no clear evidence for an association between the NOTCH4 gene and schizophrenia in the Japanese population.

Original languageEnglish
Pages (from-to)37-40
Number of pages4
JournalAmerican Journal of Medical Genetics - Neuropsychiatric Genetics
Volume128 B
Issue number1
Publication statusPublished - 2004 Jul 1
Externally publishedYes


  • Chromosome 6
  • Genetics
  • Haplotype
  • Microsatellite
  • SNP

ASJC Scopus subject areas

  • Genetics(clinical)
  • Psychiatry and Mental health
  • Cellular and Molecular Neuroscience


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