In one study that sought for promoter variants for the CCM genes, two protective single nucleotide polymorphisms were identified in the promoter region of CCM3 (rs9853967 and rs11714980) to be associated with CCMs, while no causative variants were identified in the promoter regions of CCM1 or CCM2, among the selected CCM patient cohort. Here, CCM2 is linked to cerebral cavernous malformation.