The human prepronociceptin (ppNoc) gene is located on chromosome 8p21, and
several linkage studies have suggested that the susceptibility locus for sc
hizophrenia is present in this chromosomal region. We investigated genetic
variations in the promoter and coding regions of the ppNoc gene to determin
e if there may be an association between naturally occurring mutations and
the manifestation of schizophrenia. Association analyses for the variations
found were conducted between 87 unrelated schizophrenic patients and 100 h
ealthy controls. Polymorphisms were found at both the -503 locus (G/A) in t
he promoter region and the 353 locus (Ala118Gly) in exon 3. Additionally, r
are variants were identified at the -261 locus (A/G) in the promoter region
, the 515 locus (Gln172Arg) in exon 3, and the 561 locus (G/A) in the untra
nslated region of exon 3. A significant difference was observed in allele f
requency at the 353 locus between controls and patients with continuous-cou
rse schizophrenia (P = 0.0237), and between patients with and without promi
nent negative symptoms (P = 0.0201). However, neither difference was signif
icant after Bonferroni correction. In addition, there were no significant d
ifferences in genotype and allele frequencies at either the -503 or 353 loc
us between the control group and patients with schizophrenia. These results
suggest that ppNoc gene polymorphisms have no association with schizophren
ia.