Research in Progress: Coriell Team Finds Novel Genetic Variant Associated with Stroke Risk


Stefan Zajic, PhD, a principal research scientist at the Coriell Institute for Medical Science, will present at the upcoming American Society for Human Genetics’ annual meeting preliminary findings reporting a new gene variant that correlates to increased risk for stroke. The study also suggests that daily aspirin treatment reduces or eliminates the risk for those with the variant.

“This is an encouraging discovery with potential for practical impact as stroke remains one of the leading causes of death in America,” Zajic said. “Our findings not only suggest we will be able to better identify people at risk for stroke, but also suggest an effective, affordable and readily available treatment.”

The team led by Zajic used data from the Coriell Personalized Medicine Collaborative (CPMC), a long-term study in which participants contribute genetic data and comprehensive family medical history, to identify the gene variant (in thromboxane A synthase 1) conferring elevated stroke risk.

The researchers determined that individuals with this variant are approximately twice as likely to have a stroke as those without it, and that a daily aspirin regimen reduced their stroke risk.

This finding is supported by data from Geisenger Health System’s DiscovEHR study, including genetic data from more than 40,000 people. Data from that study confirmed that the TBXAS1 variant was associated with stroke risk.  

Zajic will present these preliminary findings on Friday, Oct. 20.

About the Coriell Institute for Medical Research

The Coriell Institute for Medical Research is a global leader in understanding how our personal genomes affect our health. Coriell is recognized as one of the world's leading biobanks, distributing biological samples and offering research and biobanking services to scientists in over 70 countries around the globe. Coriell is the trusted steward of world-renowned collections for the National Institutes of Health, disease foundations and commercial clients. A pioneer in genomics, Coriell is examining the utility of using personal genetic information in clinical care through the Coriell Personalized Medicine Collaborative (CPMC) research study ( The institute is also unlocking the promise of induced pluripotent stem cells and their role in disease research and drug discovery. For more information, visit, like us on Facebook or follow @Coriell_Science on Twitter.

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