Abstract
Background
The goal of this study was to investigate the relationship between the NOTCH4 gene
and schizophrenia in African American (AA) and European American (EA) subjects.
Methods
Two single nucleotide polymorphisms (SNPs) at the NOTCH4 locus were genotyped in 123
AA schizophrenia patients, 223 EA schizophrenia patients, 85 AA healthy control subjects,
and 211 EA healthy control subjects. The specific markers studied were -1725T/G and
-25T/C. Comparisons of allele and haplotype frequencies between patients and control
subjects were performed with the chi-square test, the Fisher's Exact Test, and CLUMP
software. Linkage disequilibrium (LD) between these two SNPs was calculated with the
3LOCUS program.
Results
The haplotype -1725G/-25T associates to schizophrenia in AA subjects (p = .0008), but not in EA subjects. Alleles -1725G and allele -25T are in positive
LD both in AAs and EAs. Allele and haplotype frequencies differ significantly between
AAs and EAs.
Conclusions
The haplotype -1725G/-25T at the NOTCH4 locus, which results from SNPs of NOTCH4 that
are in LD, may increase susceptibility to schizophrenia in AAs. Any effect of this
locus on risk for schizophrenia is population-specific.
Keywords
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Article info
Publication history
Accepted:
June 2,
2003
Received in revised form:
April 11,
2003
Received:
October 11,
2002
Identification
Copyright
© 2004 Society of Biological Psychiatry. Published by Elsevier Inc. All rights reserved.