- The study investigated cerebral small-vessel disease (cSVD), a genetic cause of stroke, by analyzing a cohort of suspected familial cases using whole-genome sequencing to identify known and novel genetic variants associated with the disease.
- Among 257 suspected cSVD cases, 8.9% had variants in known cSVD genes, and 23.6% of those without known causes carried potentially harmful variants; however, none were statistically linked to the disease.
- The research suggests that rare variants in noncoding and matrisomal genes may contribute to cSVD, impacting tissue development and brain endothelial cell function, but more research is needed to verify these findings.