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

Nat Genet 2003 Oct 21;35(2):131-8. Epub 2003 Sep 21.

deCODE Genetics, Sturlugata 8, IS-101 Reykjavik, Iceland.

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.

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http://dx.doi.org/10.1038/ng1245DOI Listing
October 2003
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References

(Supplied by CrossRef)

RL Sacco et al.
Stroke 1997

R Bonita et al.
Lancet 1992

LR Caplan et al.
2000

HP Adams Jr. et al.
Stroke 1993

CM Fisher et al.
Neurology 1982

MJ Alberts et al.
1999

A Hassan et al.
Brain 2000

D Leys et al.
J. Neurol. 2002

LM Brass et al.
Baillieres Clin. Neurol. 1995

E Tournier-Lasserve et al.
Nat. Genet. 1993

A Joutel et al.
Nature 1996

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