FHU NeuroVasc webinaire – 7th, June , 2023 – 17:00 « Génétique des formes complexes de maladie des petites artères cérébrales: approches trans-ethniques et tout au long de la vie » – Pr S. Debette
« Génétique des formes complexes de maladie des petites artères cérébrales: approches trans-ethniques et tout au long de la vie » – Pr Stéphanie Debette
Large collaborative genomic studies have led to substantial progress in the identification of common genetic variants that are associated cerebral small vessel disease (cSVD)-related stroke and MRI-defined covert cSVD. In this presentation, we will provide an overview of such collaborative studies that have recently extended our understanding of the genetic architecture of cSVD, revealing over 70 independent loci associated with this condition. In silico functional explorations of the observed genetic associations point to a major role of blood pressure-related pathways, but also mechanisms independent of vascular risk factors, such as extracellular matrix structure and function, membrane transport, vascular development, myelination, and blood-brain barrier. These studies also shed new light on the continuum between monogenic and multifactorial cSVD. Further, we recently showed that MRI-cSVD risk loci identified in middle- and older age are associated with white matter microstructure on diffusion imaging and perivascular space burden already in young adults in their twenties suggesting that processes contributing to cSVD may find their root much earlier in life than previously thought. We will also summarize how genomics of complex cSVD can inform drug discovery and risk prediction.
Webinar via ZOOM