ArticleJournal of the American Heart Association2025
Low-Allele-Frequency Somatic Variants in a Cohort of Sporadic Saccular "Berry" Cerebral Aneurysms.
Article in Journal of the American Heart Association, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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12 authors.
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Abstract
backgroundSubarachnoid hemorrhage from ruptured saccular intracranial aneurysms (IAs) is fatal in ≈50% of cases. Significant effort has been devoted to identifying the molecular pathogenesis of IAs to develop new therapies to treat or halt the progression of IAs.
methodsPaired deep whole-exome sequencing was performed on the walls of sporadic IAs in a discovery set of 11 sporadic IAs from 10 unrelated patients and matching peripheral blood DNA. Somatic alterations unique to the IA tissue were characterized. Variants were validated with gene-targeted deep next-generation sequencing. The genetic landscape of a validation cohort of 68 IAs was analyzed by targeted deep sequencing of all altered genes detected in the discovery cohort as well as other genes associated with aneurysm formation.
resultsWhole-exome sequencing revealed somatic variants in 7 of the 11 IA walls. These somatic variants were found at low allele frequencies (AFs), ranging from 2% to 19% at a consistent AF range within a sample, suggesting a cell-based population. Most coding somatic variants found were missense (91%). Notably, 2 IAs from 1 patient were included in the discovery set and both harbored unique somatic variants, not detected in the other sample. Similarly, a different aneurysm from a patient in the discovery cohort was included in the larger validation cohort and revealed a unique genotype. Saccular aneurysms harbored somatic variants in genes falling into several functional categories including angiogenesis (
conclusionsSaccular IAs harbor somatic low AF variants in coding genes predicted to alter protein function. AFs occurred in a similar range within and between samples, suggesting a cell- based population driving the pathogenesis of saccular IAs. Recurrent variants in genes known to be involved in IAs such as
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