Rare Sequence Variation Underlying Suspected Familial Cerebral Small-Vessel Disease.

Bernard P H ChoKate AucklandStefan Gräf Hugh Stephen Markus

Published in: Journal of the American Heart Association (2024)

Predicted deleterious variants in known cSVD genes were present in 23.6% of unrelated cases with cSVD, but none of the genes were associated with the disease. Rare variants in noncoding and matrisomal genes could potentially contribute to cSVD development. These genes could play a role in tissue development and brain endothelial cell function. However, further studies are needed to confirm their pathophysiological roles.

Keyphrases

genome wide
bioinformatics analysis
genome wide identification
copy number
endothelial cells
pulmonary embolism
multiple sclerosis
gene expression
cord blood