Researchers Find First Gene Linked to Stroke

The first gene linked to stroke has been identified and within this gene, researchers have found haplotypes that correspond both to significantly increased risk of stroke and to significantly decreased risk. The findings were reported in the September 22, 2003, online issue of Nature Genetics.

A team of investigators from deCode Genetics (Seattle, WA, USA) worked with doctors and researchers at Iceland's National University Hospital and the Icelandic Heart Association to identify the PDE4D gene and significant haplotypes by analyzing detailed genotypic data from about 1,800 Icelandic participants, including both stroke patients and unaffected relatives. Expression and functional analyses of the gene strongly suggest that PDE4D plays an important role in atherosclerosis, most likely by influencing the proliferation and migration of smooth muscle cells within arteries.

A drug that could inhibit PDE4D or any of its specific isoforms might be a useful new tool for counteracting atherosclerosis. Decode and its partner, Roche (Basel, Switzerland), have initiated medicinal chemistry on compounds they have identified as active against targets in the PDE4D pathway. Decode is also developing a DNA-based diagnostic test based on the at-risk and protective haplotypes within the PDE4D gene.

With its comprehensive population data, deCode is turning research on the genetic causes of common diseases into a growing range of products and services in gene and drug discovery, DNA-based diagnostics, pharmacogenomics, bioinformatics, and clinical trials.





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