RESUMEN
OBJECTIVES: Previous studies on NOTCH4 gene and schizophrenia have not produced consistent results, and more studies with various ethnicities and populations were warranted. This study was performed with Korean population to find the role of the NOTCH4 gene in the development of schizophrenia. METHODS: 235 schizophrenics and 236 normal controls participated in the study. Two SNPs (-1725 A/G and -25 T/C) on the NOTCH4 gene were investigated. Genotyping was done by Taqman assay, and statistical analysis was done by contingency chi-square test for the allele and genotype frequencies and PowerMarker V3.0 for the haplotype. RESULTS: The two SNPs did not deviate from Hardy-Weinberg equilibrium in neither schizophrenics or normal controls. Two groups were not different in terms of allele and genotype distribution for both SNPs. Two SNPs were found to be in linkage disequilibrium. Haplotype analysis could not find an association between schizophrenia and these two SNPs. There was no association between the age at onset and the genotypes for both SNPs. CONCLUSION: We could not find any significant association between schizophrenia and the NOTCH4 gene in this Korean population. Although there are limitations in this study, this result supports the conclusion that the NOTCH4 gene is less likely to play a major role on the development of schizophrenia in the Asian population.