deCODE Genetics, operating in Iceland, has identified the first gene ever linked to common forms of stroke, called the PDE4D gene, and is applying its findings to the development of new drugs and diagnostics. The deCODE team, working with doctors and researchers at Iceland's National University Hospital and the Icelandic Heart Association, pinpointed the PDE4D gene and significant haplotypes by analyzing detailed genotypic data from some 1800 patients and unaffected relatives participating across Iceland in deCODE's stroke program.

Dr. Kári Stefánsson, CEO of deCODE Genetics, states that the PDE4D gene produces an enzyme suitable as a target for drugs. He says that Roche pharmaceutical company in Switzerland is already testing several such drugs on laboratory rats. deCODE and Roche co-operate in converting their landmark gene discovery into revolutionary treatments for common diseases.

deCODE’s study shows that people with a particular version of PDE4D have three to five times greater risk of stroke - as great or greater than for known environmental factors such as high blood pressure, high cholesterol and smoking.
deCODE’s study demonstrates that variations in the PDE4D gene associate significantly with ischemic stroke. Within this gene, the deCODE team identified haplotypes, or specific sets of genetic markers, corresponding either to significantly increased risk of stroke or to significantly decreased risk.

The 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 that is central to the biology of ischemic stroke. A drug that could inhibit PDE4D or one of its specific isoforms might therefore well be useful in counteracting atherosclerosis and thereby  reducing the risk of stroke. deCODE and its partner in this program, Roche, have initiated chemical work on medical compounds they have identified as active against targets in the PDE4D pathway. Also, deCODE is developing a DNA-based diagnostic test based upon the haplotypes considered at-risk or protective within the PDE4D gene.

deCODE’s website