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1: Nat Genet. 2003 Oct;35(2):131-8. Epub 2003 Sep 21.Click here to read Links
Erratum in:
Nat Genet. 2005 May;37(5):555.
Comment in:
Nat Genet. 2003 Oct;35(2):116-7.
Nat Genet. 2004 Jan;36(1):3; author reply 3-4.
Nat Genet. 2006 Oct;38(10):1091-2; author reply 1092-3.

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

deCODE Genetics, Sturlugata 8, IS-101 Reykjavik, Iceland. solveig.gretarsdottir@decode.is

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.

PMID: 14517540 [PubMed - indexed for MEDLINE]