RGD Reference Report - The gene encoding phosphodiesterase 4D confers risk of ischemic stroke. - Rat Genome Database

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The gene encoding phosphodiesterase 4D confers risk of ischemic stroke.

Authors: Gretarsdottir, S  Thorleifsson, G  Reynisdottir, ST  Manolescu, A  Jonsdottir, S  Jonsdottir, T  Gudmundsdottir, T  Bjarnadottir, SM  Einarsson, OB  Gudjonsdottir, HM  Hawkins, M  Gudmundsson, G  Gudmundsdottir, H  Andrason, H  Gudmundsdottir, AS  Sigurdardottir, M  Chou, TT  Nahmias, J  Goss, S  Sveinbjornsdottir, S  Valdimarsson, EM  Jakobsson, F  Agnarsson, U  Gudnason, V  Thorgeirsson, G  Fingerle, J  Gurney, M  Gudbjartsson, D  Frigge, ML  Kong, A  Stefansson, K  Gulcher, JR 
Citation: Gretarsdottir S, etal., Nat Genet. 2003 Oct;35(2):131-8. Epub 2003 Sep 21.
RGD ID: 1581007
Pubmed: PMID:14517540   (View Abstract at PubMed)
DOI: DOI:10.1038/ng1245   (Journal Full-text)

We previously mapped susceptibility to stroke to chromosome 5q12. Here we finely mapped this locus and tested it for association with stroke. We found the strongest association in the gene encoding phosphodiesterase 4D (PDE4D), especially for carotid and cardiogenic stroke, the forms of stroke related to atherosclerosis. Notably, we found that haplotypes can be classified into three distinct groups: wild-type, at-risk and protective. We also observed a substantial disregulation of multiple PDE4D isoforms in affected individuals. We propose that PDE4D is involved in the pathogenesis of stroke, possibly through atherosclerosis, which is the primary pathological process underlying ischemic stroke.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Stroke  IAGP 1581007 RGD 
Stroke  ISOPDE4D (Homo sapiens)1581007; 1581007 RGD 

Objects Annotated

Genes (Rattus norvegicus)
Pde4d  (phosphodiesterase 4D)

Genes (Mus musculus)
Pde4d  (phosphodiesterase 4D, cAMP specific)

Genes (Homo sapiens)
PDE4D  (phosphodiesterase 4D)


Additional Information