Characterization of variants associated with Cerebral Small Vessel Disease identifies a functional SNV in Versican (VCAN)

VCAN (rs13176921); candidates: EFEMP1, FOXF2, HAAO, KCNK3, NMT1, OPA1, RASL12, STAT3

MPRA functional analysis of 44 SNVs — identification of a functional intronic SNV in VCAN (enhancer modulation, mRNA impact)

MPRA functional characterization of 44 SNVs previously GWAS-associated with cerebral small vessel disease, spread across 9 candidate genes. The study identifies a functional intronic SNV in VCAN that modulates an enhancer, providing evidence of a direct molecular contribution of Versican to CSVD and illustrating the transition from GWAS association to functional proof.

Synthesis written by Geno'X. For the full original abstract, please refer to the source publication.

Methodological showcase (GWAS → MPRA → functional variant) transposable to other phenotypes. Disease not strictly monogenic but with a genetic component — may be of interest in early-onset familial CSVD.

functional gene/variant +2; large-scale MPRA +2; not monogenic +0; preprint −1; methodological impact +2; GWAS→function bridge +1