학술논문
The gene encoding phosphodiesterase 4D confers risk of ischemic stroke.
Document Type
Article
Author
Gretarsdottir, Solveig; Thorleifsson, Gudmar; Reynisdottir, Sigridur Th; Manolescu, Andrei; Jonsdottir, Sif; Jonsdottir, Thorbjörg; Gudmundsdottir, Thorunn; Bjarnadottir, Sigrun M.; Einarsson, Olafur B.; Gudjonsdottir, Herdis M.; Hawkins, Malcolm; Gudmundsson, Gudmundur; Gudmundsdottir, Hrefna; Andrason, Hjalti; Gudmundsdottir, Asta S.; Sigurdardottir, Matthildur; Chou, Thomas T.; Nahmias, Joseph; Goss, Shyamali; Sveinbjörnsdottir, Sigurlaug
Source
Subject
*ATHEROSCLEROSIS
*GENETICS
*ISCHEMIA
*PATHOLOGY
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Language
ISSN
1061-4036
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. [ABSTRACT FROM AUTHOR]