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 journalArticle

34 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)529-533
Number of pages5
JournalAmerican Journal of Medical Genetics - Neuropsychiatric Genetics
Volume105
Issue number6
DOIs
Publication statusPublished - Aug 8 2001

Fingerprint

Schizophrenia
DiGeorge Syndrome
Genes
Telencephalon
Chromosome Mapping
Ubiquitin
Psychotic Disorders
Proteolysis
Single Nucleotide Polymorphism
Exons
Chromosomes

Keywords

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

ASJC Scopus subject areas

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

Cite this

Association study of a promoter polymorphism of UFD1L gene with schizophrenia. / De Luca, Alessandro; Pasini, Augusto; Amati, Francesca; Botta, Annalisa; Spalletta, Gianfranco; Alimenti, Serenella; Caccamo, Francesca; Conti, Emanuela; Trakalo, Joseph; Macciardi, Fabio; Dallapiccola, Bruno; Novelli, Giuseppe.

In: American Journal of Medical Genetics - Neuropsychiatric Genetics, Vol. 105, No. 6, 08.08.2001, p. 529-533.

Research output: Contribution to journalArticle

De Luca, A, Pasini, A, Amati, F, Botta, A, Spalletta, G, Alimenti, S, Caccamo, F, Conti, E, Trakalo, J, Macciardi, F, Dallapiccola, B & Novelli, G 2001, 'Association study of a promoter polymorphism of UFD1L gene with schizophrenia', American Journal of Medical Genetics - Neuropsychiatric Genetics, vol. 105, no. 6, pp. 529-533. https://doi.org/10.1002/ajmg.1489
De Luca, Alessandro ; Pasini, Augusto ; Amati, Francesca ; Botta, Annalisa ; Spalletta, Gianfranco ; Alimenti, Serenella ; Caccamo, Francesca ; Conti, Emanuela ; Trakalo, Joseph ; Macciardi, Fabio ; Dallapiccola, Bruno ; Novelli, Giuseppe. / Association study of a promoter polymorphism of UFD1L gene with schizophrenia. In: American Journal of Medical Genetics - Neuropsychiatric Genetics. 2001 ; Vol. 105, No. 6. pp. 529-533.
@article{3177e94e879446829e93da8f6455c87f,
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.",
keywords = "Chromosome 22, DiGeorge syndrome, Linkage analysis, Ubiquitin, VCFS",
author = "{De Luca}, Alessandro and Augusto Pasini and Francesca Amati and Annalisa Botta and Gianfranco Spalletta and Serenella Alimenti and Francesca Caccamo and Emanuela Conti and Joseph Trakalo and Fabio Macciardi and Bruno Dallapiccola and Giuseppe Novelli",
year = "2001",
month = "8",
day = "8",
doi = "10.1002/ajmg.1489",
language = "English",
volume = "105",
pages = "529--533",
journal = "American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics",
issn = "1552-4841",
publisher = "wiley",
number = "6",

}

TY - JOUR

T1 - Association study of a promoter polymorphism of UFD1L gene with schizophrenia

AU - De Luca, Alessandro

AU - Pasini, Augusto

AU - Amati, Francesca

AU - Botta, Annalisa

AU - Spalletta, Gianfranco

AU - Alimenti, Serenella

AU - Caccamo, Francesca

AU - Conti, Emanuela

AU - Trakalo, Joseph

AU - Macciardi, Fabio

AU - Dallapiccola, Bruno

AU - Novelli, Giuseppe

PY - 2001/8/8

Y1 - 2001/8/8

N2 - 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.

AB - 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.

KW - Chromosome 22

KW - DiGeorge syndrome

KW - Linkage analysis

KW - Ubiquitin

KW - VCFS

UR - http://www.scopus.com/inward/record.url?scp=0035828111&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0035828111&partnerID=8YFLogxK

U2 - 10.1002/ajmg.1489

DO - 10.1002/ajmg.1489

M3 - Article

VL - 105

SP - 529

EP - 533

JO - American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics

JF - American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics

SN - 1552-4841

IS - 6

ER -