Individuals with a particular variant of the gene PRKCH have a 40% increased risk of cerebral infarction, the most common type of stroke, according to a study to be published in the February 2007 issue of Nature Genetics.
Michiaki Kubo and colleagues examined more than 50,000 variants across the genome in more than 1,000 Japanese individuals with or without cerebral infarction. One variant in the gene PRKCH was found significantly more frequently in the individuals who had had a stroke. This variant alters the sequence of the protein encoded by PRKCH (PKC eta), which is an enzyme that modifies other proteins by attaching phosphate groups to them. The authors show that the risk variant makes the enzyme more active, and that it is abundantly expressed in a variety of different cell types in blocked arteries, which can ultimately lead to stroke. Arteries with more severe blockage tended to have higher levels of PKC eta.
Although the association was confirmed in another group of Japanese individuals with cerebral infarction, initial surveys suggest that this PRKCH variant is extremely rare in individuals of European or African descent, suggesting that it may not have a significant effect on the genetic susceptibility to stroke in non-Asian populations.
Michiaki Kubo (University of Tokyo, Japan)
Abstract available online.
(C) Nature Genetics press release.
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