The CTGn polymorphism in the NOTCH4 gene is not associated with schizophrenia in Japanese individualsReportar como inadecuado

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BMC Psychiatry

, 1:1

First Online: 04 June 2001Received: 18 April 2001Accepted: 04 June 2001


BackgroundThe human NOTCH4 gene is a candidate gene for schizophrenia due to its chromosomal location and neurobiological roles. In a British linkage study, NOTCH4 gene polymorphisms were highly associated with schizophrenia. In a Japanese case-control association study, however, these polymorphisms did not show significant associations with schizophrenia. We conducted a case-control study with Japanese subjects to explore an association between the triplet repeat polymorphism in the NOTCH4 gene and schizophrenia, including subtypes of schizophrenia, longitudinal disease course characteristics, and a positive family history for psychoses.

MethodsWe examined the CTGn repeat polymorphism in the NOTCH4 gene among 100 healthy Japanese individuals and 102 patients with schizophrenia 22 paranoid, 38 disorganized, 29 residual, 64 episodic, 31 continuous, 42 with prominent negative symptoms, and 46 with positive family histories using a polymerase chain reaction-based, single-strand conformational polymorphism analysis.

ResultsFive different alleles consisting of 6, 9, 10, 11, and 13 repeats of CTG Leu in patients with schizophrenia, and 4 alleles consisting of 6, 9, 10, and 11 repeats in controls were found. No significant differences in genotype or allele frequencies of repeat numbers were found between controls and patients. In addition, there were no associations between the polymorphism and schizophrenia subtypes, longitudinal disease course characteristics, or positive family history of the patients.

ConclusionsOur data suggest a lack of association between the NOTCH4 gene triplet repeat polymorphism and schizophrenia in Japanese individuals.

List of abbreviations usedNOTCH1,4Notch Drosophila homolog of 1,4

SNPsingle nucleotide polymorphism

DSM-IVdiagnostic and statistical manual of mental disorders, 4th edn

PCRpolymerase chain reaction

SSCPsingle-strand conformational polymorphism

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Autor: Koubun Imai - Shoji Harada - Yoichi Kawanishi - Hirokazu Tachikawa - Takehito Okubo - Toshihito Suzuki


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