RGD Reference Report - Disrupted in schizophrenia 1 (DISC1): association with schizophrenia, schizoaffective disorder, and bipolar disorder. - Rat Genome Database

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Disrupted in schizophrenia 1 (DISC1): association with schizophrenia, schizoaffective disorder, and bipolar disorder.

Authors: Hodgkinson, CA  Goldman, D  Jaeger, J  Persaud, S  Kane, JM  Lipsky, RH  Malhotra, AK 
Citation: Hodgkinson CA, etal., Am J Hum Genet. 2004 Nov;75(5):862-72. Epub 2004 Sep 22.
RGD ID: 5509833
Pubmed: PMID:15386212   (View Abstract at PubMed)
PMCID: PMC1182115   (View Article at PubMed Central)
DOI: DOI:10.1086/425586   (Journal Full-text)

Schizophrenia, schizoaffective disorder, and bipolar disorder are common psychiatric disorders with high heritabilities and variable phenotypes. The Disrupted in Schizophrenia 1 (DISC1) gene, on chromosome 1q42, was originally discovered and linked to schizophrenia in a Scottish kindred carrying a balanced translocation that disrupts DISC1 and DISC2. More recently, DISC1 was linked to schizophrenia, broadly defined, in the general Finnish population, through the undertransmission to affected women of a common haplotype from the region of intron 1/exon 2. We present data from a case-control study of a North American white population, confirming the underrepresentation of a common haplotype of the intron 1/exon 2 region in individuals with schizoaffective disorder. Multiple haplotypes contained within four haplotype blocks extending between exon 1 and exon 9 are associated with schizophrenia, schizoaffective disorder, and bipolar disorder. We also find overrepresentation of the exon 9 missense allele Phe607 in schizoaffective disorder. These data support the idea that these apparently distinct disorders have at least a partially convergent etiology and that variation at the DISC1 locus predisposes individuals to a variety of psychiatric disorders.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
bipolar disorder susceptibilityIAGP 5509833DNA:SNPs: :multipleRGD 
bipolar disorder susceptibilityISODISC1 (Homo sapiens)5509833; 5509833DNA:SNPs: :multipleRGD 
psychotic disorder susceptibilityIAGP 5509833DNA:SNPs: :multipleRGD 
psychotic disorder susceptibilityISODISC1 (Homo sapiens)5509833; 5509833DNA:SNPs: :multipleRGD 
schizophrenia susceptibilityIAGP 5509833DNA:SNPs: :multipleRGD 
schizophrenia susceptibilityISODISC1 (Homo sapiens)5509833; 5509833DNA:SNPs: :multipleRGD 

Objects Annotated

Genes (Rattus norvegicus)
Disc1  (DISC1 scaffold protein)

Genes (Mus musculus)
Disc1  (disrupted in schizophrenia 1)

Genes (Homo sapiens)
DISC1  (DISC1 scaffold protein)


Additional Information