The RNF213 p.R4810K genetic variant is independently associated with extracranial carotid artery disease (ECAD) beyond its known link to intracranial atherosclerotic disease (ICAD).
This association persists after adjusting for traditional vascular risk factors and concurrent ICAD, emphasizing a distinct pathogenic role.
The risk conferred by RNF213 p.R4810K strengthens with increasing ECAD severity, notably showing a fourfold increase in odds for carotid artery occlusion among variant carriers.
Findings suggest the existence of unique modifiers or mechanisms influencing extracranial vascular disease separate from intracranial arterial pathology.
