Association study of a promoter polymorphism of UFD1L gene with schizophrenia

Schizophrenia or schizoaffective disorders are often found in patients affe cted by DiGeorge/velo-cardio-facial syndrome (DGS/VCFS) as a result of hemi zygosity of chromosome 22q11.2. We evaluated the UFD1L gene, mapping within the DGS/VCFS region, as a potential candidate for schizophrenia susceptibi lity. UFD1L encodes for the ubiquitin fusion degradation 1 protein, which i s expressed in the medial telencephalon during mouse development. Using cas e control, simplex families (trios), and functional studies, we provided ev idence for association between schizophrenia and a single nucleotide functi onal polymorphism, -277A/G, located within the noncoding region upstream th e first exon of the UFD1L gene. The results are supportive of UFD1L involve ment in the neurodevelopmental origin of schizophrenia and contribute in de lineating etiological and pathogenetic mechanism of the schizophrenia subty pe related to 22q11.2 deletion syndrome. (C) 2001 Wiley-Liss, Inc.