Abstract WP164: Spontaneous Cervical Artery Dissection in Individuals of African Ancestry

Abstract

Introduction: The pathogenesis of spontaneous cervical artery dissection (sCeAD), a common cause of stroke in young adults, is poorly understood. The majority of published data in sCeAD derive from populations of European ancestry, including a recent genome-wide study identifying an association with the rs9349379 polymorphism of the PHACTR1 gene. Little is known about sCeAD in individuals of African ancestry despite robust epidemiological data showing increased risk of stroke at younger ages, partially explained by higher prevalence of traditional vascular risk factors. We hypothesize that people of African ancestry with sCeAD have different epidemiology and clinical profiles compared to those of European ancestry, and a different genetic architecture related to rs9349379 of the PHACTR1 gene. Methods: We searched a single-center database of sCeAD (n=278) to identify individuals of African and European ancestry. We compared differential prevalence of sCeAD versus all young stroke (≤ 60) between patients of African and European ancestry at our center. We characterized clinical profiles, confirmed by electronic medical record review. Data include descriptive statistics reported as medians or percentages as appropriate. We also used the publicly available HapMap Project to obtain allele frequencies of rs9349379 in different ancestral populations. Results: Conclusion: Individuals of African Ancestry account for a relatively smaller proportion of sCeAD cases compared to the proportion of all young stroke cases. Despite similar ages at time of event, individuals of African ancestry suffering sCeAD have higher prevalence of vascular risk factors compared to individuals of European Ancestry. Reviewing HapMap data demonstrates striking differences in allele frequencies for rs9349379 in the PHACTR1 gene between ancestral populations. Further prospective research is needed to clarify these associations and disparities in the pathogenesis of sCeAD.