At present, there are already sufficient studies on peripheral arterial disease, but few studies have focused on whether there are pathogenic gene mutations or abnormal protein function in intracranial arteriosclerosis. Therefore, this study hopes to conduct co-localization analysis of genomics and proteomics, use Mendelian randomization methods for causal inference, and use imaging data for fusion analysis in the hope of discovering the characteristics that lead to intracranial arteriosclerosis and premature intracranial arteriosclerosis.
Intracranial Atherosclerosis (41202, ICD Code: I67.2) is a major contributor to ischemic stroke and cognitive decline, especially in Asian populations. Despite its clinical significance, current research predominantly focuses on extracranial or peripheral arterial disease, leaving the pathogenesis of intracranial arteriosclerosis insufficiently understood. Unlike peripheral atherosclerosis, intracranial arteriosclerosis presents distinct biological behavior and risk profiles, suggesting that different molecular mechanisms may be involved.
Recent advances in genomics and radiomics have enabled multi-layered exploration of complex diseases. However, these modalities are rarely integrated in a unified analytic framework to investigate intracranial vascular pathology. In particular, the genetic architecture underlying intracranial arteriosclerosis remains poorly defined, and it is unclear whether certain protein-level changes mediate the effects of inherited genetic variants. Furthermore, the relationship between these molecular signatures and radiological phenotypes of intracranial artery disease has not been systematically studied.