Genetic Variant in Persons of African Descent Linked with Stroke: Analysis

A new meta-analysis tries to shed light on why strokes hit the black population harder than other groups.

Published in Stroke, the COMPASS (Consortium of Minority Population Genome-Wide Association Studies of Stroke) included more than 22,000 individuals of African ancestry from 13 different cohorts (3,734 cases and 18,317 controls).

“Stroke is a complex disease with multiple genetic and environmental risk factors,” the authors wrote. “Blacks endure a nearly 2-fold greater risk of stroke and are 2 to 3 times more likely to die from stroke than European Americans.”

The authors identified a single nucleotide polymorphism (rs55931441) near HNF1A gene that they reported had genome-wide significance (P=4.62×10−8) along with at least 29 other polymorphisms at 24 unique loci that they said showed evidence of an association (P<1×10−6). The authors compared this to other populations by performing a look-up analysis in Europeans and Hispanics (in the Stroke Genetics Network). Sixteen of 24 loci across multiple populations validated the findings for individuals of African descent. They also wrote that variants in the SFXN4 and TMEM108 genes represented potential novel ischemic stroke loci.

Despite its limitations, the authors noted that genetic studies like COMPASS that include minority populations present potential for identifying underlying stroke disparities. The upshot, they said, was potential advances in precision medicine that would lead to better stroke risk stratification in diverse populations.

“Given the undue burden that people of African ancestry endure from stroke and other cerebrovascular disease, the lack of investigation of risk factors in this group has been a substantial gap,” said researcher Bradford B. Worrall, MD, a neurologist at UVA Health, in a press release. “Our work is an important step toward filling that gap, albeit with much more work to be done. These findings will provide greater insight into ethnic-specific and global risk factors to reduce the second leading cause of death worldwide.”