Researchers identify genes associated with increased risk for ischemic stroke

By performing exome sequencing, researchers have identified two genes and mechanisms (PDE4DIP and ACOT4) associated with an increased risk for ischemic stroke.

They also found two other genes (ZFHX3 and ABCA1) had protein-coding variants associated with ischemic stroke.

Lead researcher Stephen S. Rich, PhD, of the Center for Public Health Genomics at the University of Virginia in Charlottesville,  and colleagues published their findings online in JAMA Neurology on May 11.

“These new results suggest that pathways, involving cell migration and growth (PDE4DIP) and long-chain fatty acid metabolism (ACOT4), could provide insights into the cause of ischemic stroke and as targets for pharmacologic interventions and therapies,” they wrote.

They cited the 2010 Global Burden of Disease study, which found ischemic stroke was the second leading cause of death and third leading cause of life years lost. Researchers defined ischemic stroke as a typical clinical syndrome with radiologic confirmation of brain infarction or the absence of an alternative diagnosis for the clinical syndrome.

In this study, they examined protein-coding region variants in ischemic stroke from the National Heart, Lung, and Blood Institute Exome Sequencing Project (ESP), which was initiated to find genes and mechanisms that contributed to heart, lung and blood disorders.

Approximately 6,000 people from European and African ancestry participated in the ESP from Jan. 1, 2010 through June 30, 2012. Researchers analyzed the data between July 12, 2012 and July 13, 2013. They performed the exome sequencing at the Broad Institute and the University of Washington.

Researchers found that although European and African Americans were included in the ESP, there was not enough data on African Americans to permit genetic analyses of ischemic stroke in that population.

They added that no variant or gene-based test attained statistical significance when assessing atherosclerotic stroke or lacunar stroke.