RGD Reference Report - Genetic analysis of a functional GRIN2A promoter (GT)n repeat in bipolar disorder pedigrees in humans. - Rat Genome Database

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Genetic analysis of a functional GRIN2A promoter (GT)n repeat in bipolar disorder pedigrees in humans.

Authors: Itokawa, M  Yamada, K  Iwayama-Shigeno, Y  Ishitsuka, Y  Detera-Wadleigh, S  Yoshikawa, T 
Citation: Itokawa M, etal., Neurosci Lett 2003 Jul 10;345(1):53-6.
RGD ID: 1358644
Pubmed: PMID:12809987   (View Abstract at PubMed)

Hypofunction of glutamatergic neurotransmission has been hypothesized to underlie the pathophysiology of bipolar affective disorder, as well as schizophrenia. We examined the role of the N-methyl-D-aspartate receptor 2A subunit (GRIN2A) gene on 16p13.3, a region thought to be linked to bipolar disorder, (1) because in a prior study we identified a functional and polymorphic (GT)n repeat in the 5' regulatory region of the gene, with longer alleles showing lower transcriptional activity and an over representation in schizophrenia, and (2) because of the suggestion of a genetic overlap between affective disorder and schizophrenia. Family-based association tests detected a nominally significant preferential transmission of longer alleles in a panel of 96 multiplex bipolar pedigrees. These results support the hypothesis that a hypoglutamatergic state is involved in the pathogenesis of bipolar affective disorder.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
bipolar disorder  IAGP 1358644DNA:repeat:promoter:(GT)18-33 (human)RGD 
bipolar disorder  ISOGRIN2A (Homo sapiens)1358644; 1358644DNA:repeat:promoter:(GT)18-33 (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Bipolar affective disorder  IAGP 1358644DNA:repeat:promoter:(GT)18-33RGD 
Objects Annotated

Genes (Rattus norvegicus)
Grin2a  (glutamate ionotropic receptor NMDA type subunit 2A)

Genes (Mus musculus)
Grin2a  (glutamate receptor, ionotropic, NMDA2A (epsilon 1))

Genes (Homo sapiens)
GRIN2A  (glutamate ionotropic receptor NMDA type subunit 2A)


Additional Information