Inter-individual variability in oxidative stress-related genes may impact CCM1 disease severity.
CYP4 and CYP8 families were associated with either large lesion or total lesion count, while CYP46 and MMP Stromelysin families were associated with ICH.
Single SNPs in CYP4F8, CYP4F11, CYP4F12, CYP8A1, CYP19A1, CYP27A1, CYP27B1, CYP46A1 and CYP51A1 genes showed significant associations with at least one disease severity phenotype.
A single SNP in the MMP3 gene was strongly associated with ICH.
CYP and MMP SNPs associated with CCM1 disease severity could serve as early objective predictors of disease susceptibility and outcome.