TY - JOUR
T1 - Association of six polymorphisms of the NOTCH4 gene with schizophrenia in the Japanese population
AU - Tochigi, Mamoru
AU - Zhang, Xuan
AU - Umekage, Tadashi
AU - Ohashi, Jun
AU - Kato, Chieko
AU - Marui, Tetsuya
AU - Otowa, Takeshi
AU - Hibino, Hiroyuki
AU - Otani, Toshiyuki
AU - Kohda, Kazuhisa
AU - Liu, Shuzheng
AU - Kato, Nobumasa
AU - Tokunaga, Katsushi
AU - Sasaki, Tsukasa
PY - 2004/7/1
Y1 - 2004/7/1
N2 - 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.
AB - 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.
KW - Chromosome 6
KW - Genetics
KW - Haplotype
KW - Microsatellite
KW - SNP
UR - http://www.scopus.com/inward/record.url?scp=3042842672&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=3042842672&partnerID=8YFLogxK
M3 - Article
C2 - 15211628
AN - SCOPUS:3042842672
SN - 1552-4841
VL - 128 B
SP - 37
EP - 40
JO - American Journal of Medical Genetics - Neuropsychiatric Genetics
JF - American Journal of Medical Genetics - Neuropsychiatric Genetics
IS - 1
ER -
