RNF213 p.R4810K Variant: A Novel Independent Genetic Risk Factor for Extracranial Carotid Artery Disease

Highlight

• 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.

Study Background