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. (C) 2001 Wiley-Liss, Inc.

De Luca, A., Pasini, A., Amati, F., Botta, A., Spalletta, G., Alimenti, S., et al. (2001). Association study of a promoter polymorphism of UFD1L gene with schizophrenia. AMERICAN JOURNAL OF MEDICAL GENETICS, 105(6), 529-533 [10.1002/ajmg.1489].

Association study of a promoter polymorphism of UFD1L gene with schizophrenia

PASINI, AUGUSTO;AMATI, FRANCESCA;BOTTA, ANNALISA;DALLA PICCOLA, BRUNO;NOVELLI, GIUSEPPE
2001

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. (C) 2001 Wiley-Liss, Inc.
Pubblicato
Rilevanza internazionale
Articolo
Sì, ma tipo non specificato
Settore MED/03 - Genetica Medica
Settore MED/39 - Neuropsichiatria Infantile
English
Con Impact Factor ISI
Chromosome 22; DiGeorge syndrome; Linkage analysis; Ubiquitin; VCFS
http://onlinelibrary.wiley.com/doi/10.1002/ajmg.1489/abstract;jsessionid=641C28A89FA01BCA019D0D1D0004559E.f04t02
De Luca, A., Pasini, A., Amati, F., Botta, A., Spalletta, G., Alimenti, S., et al. (2001). Association study of a promoter polymorphism of UFD1L gene with schizophrenia. AMERICAN JOURNAL OF MEDICAL GENETICS, 105(6), 529-533 [10.1002/ajmg.1489].
De Luca, A; Pasini, A; Amati, F; Botta, A; Spalletta, G; Alimenti, S; Caccamo, F; Conti, E; Trakalo, J; Macciardi, F; DALLA PICCOLA, B; Novelli, G
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2108/49982
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