Association study of a promoter polymorphism of UFD1L gene with schizophrenia

Alessandro De Luca, Augusto Pasini, Francesca Amati, Annalisa Botta, Gianfranco Spalletta, Serenella Alimenti, Francesca Caccamo, Emanuela Conti, Joseph Trakalo, Fabio Macciardi, Bruno Dallapiccola, Giuseppe Novelli

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)529-533
Number of pages5
JournalAmerican Journal of Medical Genetics - Neuropsychiatric Genetics
Issue number6
Publication statusPublished - Aug 8 2001


  • Chromosome 22
  • DiGeorge syndrome
  • Linkage analysis
  • Ubiquitin
  • VCFS

ASJC Scopus subject areas

  • Genetics(clinical)
  • Neuropsychology and Physiological Psychology
  • Neuroscience(all)
  • Genetics


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