| Literature DB >> 14517540 |
Solveig Gretarsdottir1, Gudmar Thorleifsson, Sigridur Th Reynisdottir, Andrei Manolescu, Sif Jonsdottir, Thorbjörg Jonsdottir, Thorunn Gudmundsdottir, Sigrun M Bjarnadottir, Olafur B Einarsson, Herdis M Gudjonsdottir, Malcolm Hawkins, Gudmundur Gudmundsson, Hrefna Gudmundsdottir, Hjalti Andrason, Asta S Gudmundsdottir, Matthildur Sigurdardottir, Thomas T Chou, Joseph Nahmias, Shyamali Goss, Sigurlaug Sveinbjörnsdottir, Einar M Valdimarsson, Finnbogi Jakobsson, Uggi Agnarsson, Vilmundur Gudnason, Gudmundur Thorgeirsson, Jurgen Fingerle, Mark Gurney, Daniel Gudbjartsson, Michael L Frigge, Augustine Kong, Kari Stefansson, Jeffrey R Gulcher.
Abstract
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.Entities:
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Year: 2003 PMID： 14517540 DOI： 10.1038/ng1245
Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330