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Chromatin conformation links putative enhancers in intracranial aneurysm–associated regions to potential candidate genes

Journal of the American Heart Association Apr 25, 2019

Laarman MD, et al. - In the pathogenesis of intracranial aneurysm (IA), the role of putative enhancers was explored, as well as their potential target genes and to validate their regulatory activity. From genome-wide association studies, 34 putative enhancers in IA-related regions were chosen using the previously published circle of Willis chromatin immunoprecipitation and sequencing data. Thereafter, they prioritized target genes by using a chromatin conformation capture technique. Interaction of 15 putative enhancers with the promoters of 6 target genes (SOX17, CDKN2B, MTAP, CNNM2, RPEL1, and GATA6) was found. They found, in 4 of 6 IA-associated genome-wide association study regions, 8 putative enhancers that were active in vivo and showed interaction with 6 nearby genes, this indicated that the identified putative enhancers regulated these genes. In IA pathogenesis, SOX17, CDKN2B, MTAP, CNNM2, RPEL1, and GATA6 were identified as the potential candidate genes implicated.

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