title: Association study of a promoter polymorphism of UFD1L gene with schizophrenia.
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.
authors.affiliation: Department of Biopathology and Diagnostic Imaging, Tor Vergata University of Rome, Via di Tor Vergata 135, 00133 Rome, Italy.
authors.forename: A
authors.initials: A
authors.lastname: De Luca
authors.forename: A
authors.initials: A
authors.lastname: Pasini
authors.forename: F
authors.initials: F
authors.lastname: Amati
authors.forename: A
authors.initials: A
authors.lastname: Botta
authors.forename: G
authors.initials: G
authors.lastname: Spalletta
authors.forename: S
authors.initials: S
authors.lastname: Alimenti
authors.forename: F
authors.initials: F
authors.lastname: Caccamo
authors.forename: E
authors.initials: E
authors.lastname: Conti
authors.forename: J
authors.initials: J
authors.lastname: Trakalo
authors.forename: F
authors.initials: F
authors.lastname: Macciardi
authors.forename: B
authors.initials: B
authors.lastname: Dallapiccola
authors.forename: G
authors.initials: G
authors.lastname: Novelli
mesh_terms: D033942:Adaptor Proteins, Vesicular Transport; D000328:Adult; D000483:Alleles; D002170:Canada; D002460:Cell Line; D015331:Cohort Studies; D004247:DNA / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D049452:Green Fluorescent Proteins; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D007558:Italy; D008164:Luminescent Proteins / Q000235:genetics / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic / Q000235:genetics*; D011506:Proteins / Q000235:genetics*; D011993:Recombinant Fusion Proteins / Q000235:genetics / Q000378:metabolism; D012559:Schizophrenia / Q000235:genetics* / Q000473:pathology
chemical_list: D033942:Adaptor Proteins, Vesicular Transport; D047908:Intracellular Signaling Peptides and Proteins; D008164:Luminescent Proteins; D011506:Proteins; D011993:Recombinant Fusion Proteins; C491497:UFD1 protein, human; D049452:Green Fluorescent Proteins; D004247:DNA