Unravelling the genetic architecture of cerebral small vessel disease in the context of stroke.

ABSTRACT: Cerebral small vessel disease (cSVD) is a major contributor to stroke, dementia, and cognitive decline. Despite significant progress through large-scale genome-wide association studies (GWAS) for cSVD and stroke, the genetic architecture underlying these conditions remains poorly understood. This review highlights recent advancements in statistical tools and provides a comprehensive overview of current insights into the genetic underpinnings of cSVD and stroke. We focus on the relevance of non-additive effects, local heritability, and polygenicity in shaping these traits. While single nucleotide polymorphism (SNP)-based heritability estimates for stroke and cSVD traits remain lower than pedigree-based estimates, we explore challenges and opportunities in addressing this "missing heritabili

SUBMITTER: Chakkarai S 

PROVIDER: S-EPMC12331658 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature