CeAD is a prevalent cause of stroke in young adults. While the pathogenesis of incident CeAD remains poorly understood, clinical and genetic associations suggest a systemic arteriopathy at time of event. We hypothesized that individuals suffering CeAD will express a distinct gene expression profile compared to age and sex-matched controls and convalescent profiles within the same individual at a later time point.

We enrolled 37 patients with non-traumatic CeAD (with and without ischemic stroke). Cases were matched to non-CeAD ischemic stroke (n=16) and healthy (n=11) controls. Whole blood samples were collected within four weeks from time of event, and again at 3 and 6-month follow-up. We used microarrays (Illumina’s HumanHT-12 v4 Expression BeadChip) to assess differential gene expression at time of CeAD relative to controls, and relative to gene expression at >3-month follow-up within CeAD cases. Mixed effects regression model included covariates of age, sex, race/ethnicity, time of enrollment, and time of stroke occurrence. We used a False Discovery Rate (FDR) cutoff of 5% to account for multiple testing and 1.5x fold change cutoff to define differential gene expression.

In this sample of individuals suffering CeAD, we identified a distinct gene expression profile associated with incident dissection and potential pathology in oxygen transport. These results are hypothesis generating and replication in larger, independent cohorts is warranted.