Aug 10, 2001

Association study of a promoter polymorphism of UFD1L gene with schizophrenia

American Journal of Medical Genetics
A De LucaGiuseppe Novelli

Abstract

Schizophrenia or schizoaffective disorders are often found in patients affected by DiGeorge/velo-cardio-facial syndrome (DGS/VCFS) as a result of hemizygosity of chromosome 22q11.2. We evaluated the UFD1L gene, mapping within the DGS/VCFS region, as a potential candidate for schizophrenia susceptibility. UFD1L encodes for the ubiquitin fusion degradation 1 protein, which is expressed in the medial telencephalon during mouse development. Using case control, simplex families (trios), and functional studies, we provided evidence for association between schizophrenia and a single nucleotide functional polymorphism, -277A/G, located within the noncoding region upstream the first exon of the UFD1L gene. The results are supportive of UFD1L involvement in the neurodevelopmental origin of schizophrenia and contribute in delineating etiological and pathogenetic mechanism of the schizophrenia subtype related to 22q11.2 deletion syndrome.

  • References19
  • Citations23

References

  • References19
  • Citations23

Citations

Mentioned in this Paper

Simple Lobule of Cerebellum
UFD1L protein, human
TBX1 wt Allele
Exons
Chimeric Proteins, Recombinant
Schizophrenia
Ubiquitin
Gene Products, Protein
Incidence Studies
Promoter

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