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Researchers Define Regulatory Role for Stroke-Related Variants Between Genes

For a paper appearing in PNAS, a team from Canada, France, and the US dig into intergenic variants linked to stroke risk, demonstrating that they regulate a transcriptional enhancer that influences expression of the FOXF2 transcription factor linked to blood vessel stability. With a combination of in vitro and in vivo experiments in cell lines and zebrafish models, respectively, investigators narrowed in on binding sites for three FOXF2-related transcription factors in a stroke-associated region between the FOXF2 and FOXQ1 genes. "We identify critical enhancer regions for FOXF2 gene expression, including sites occupied by transcription factors ETS1, RBPJ, and CTCF," they report, noting that SNPs implicated in enhanced risk of ischemic stroke, small vessel stroke, and other conditions appears to dial down the function of this enhancer.