Matrisome and Immune Pathways Contribute to Extreme Vascular Outcomes in Williams-Beuren Syndrome.
Delong LiuCharles J BillingtonNeelam RajaZoe C WongMark D LevinWulfgang ReschCamille AlbaDaniel N HupaloElisa BiaminoMaria Francesca BedeschiMaria Cristina DigilioGabriella Maria SqueoRoberta VillaPheobe C R ParrishRussell H KnutsenSharon OsgoodJoy A FreemanCliffton L DalgardGiuseppe MerlaBarbara R PoberCarolyn B MervisAmy E RobertsColleen A MorrisLucy R OsborneBeth A KozelPublished in: Journal of the American Heart Association (2024)
Smaller sample sizes in rare disease studies necessitate new approaches to detect modifiers. Our strategies identified variation in matrisome and immune pathways that are associated with SVAS severity. These findings suggest that, like other aortopathies, SVAS may be influenced by the balance of synthesis and degradation of matrisome proteins. Leveraging multiomic data and results from larger aorta-focused genome-wide association studies may accelerate modifier discovery for rare aortopathies like SVAS.