A family-based and case-control association study of the NOTCH4 gene and schizophrenia

Mol Psychiatry. 2002;7(1):100-3. doi: 10.1038/sj.mp.4000945.


Recently a strong positive association between schizophrenia and Notch4 has been reported. Both individual markers and haplotypes showed association with the disease, with five markers (three microsatellites and two SNPs) being tested. In order to test this finding we genotyped these markers in the Han Chinese population using a sample of 544 cases and 621 controls as well as >300 trios. Analysis of allele, genotype and haplotype frequencies in both samples showed no association between the markers and the disease. Our results would indicate that a significant role for the Notch4 gene in schizophrenia can be ruled out in the Han Chinese. However, similar studies are necessary in the Caucasian population as linkage disequilibrium arrangements and founder effects may differ between these two populations.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Alleles
  • Case-Control Studies
  • China
  • Chromosomes, Human, Pair 6 / genetics
  • Ethnic Groups / genetics
  • Female
  • Genetic Predisposition to Disease
  • Genotype
  • Haplotypes / genetics
  • Humans
  • Linkage Disequilibrium
  • Male
  • Microsatellite Repeats*
  • Middle Aged
  • Nerve Tissue Proteins / genetics*
  • Nerve Tissue Proteins / physiology
  • Polymorphism, Single Nucleotide*
  • Proto-Oncogene Proteins / genetics*
  • Proto-Oncogene Proteins / physiology
  • Receptor, Notch4
  • Receptors, Cell Surface*
  • Receptors, Notch
  • Schizophrenia / ethnology
  • Schizophrenia / genetics*


  • NOTCH4 protein, human
  • Nerve Tissue Proteins
  • Proto-Oncogene Proteins
  • Receptor, Notch4
  • Receptors, Cell Surface
  • Receptors, Notch