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Updated: Aug 30, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
The gene encoding phosphodiesterase 4D confers risk of ischemic stroke
Solveig Gretarsdottir1, Gudmar Thorleifsson, Sigridur Th Reynisdottir
1deCODE Genetics, Sturlugata 8, IS-101 Reykjavik, Iceland. solveig.gretarsdottir@decode.is
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.
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