The Genetics of Intracranial Aneurysms
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Purpose of Review
Saccular intracranial aneurysm (sIA) is a relatively common intracranial arterial pathology with a prevalence of approximately 3%. Rupture of sIA causes subarachnoid hemorrhage, which is the third most frequent form of stroke and which predominantly affects the working-age population. The underlying causes of IA are complex, and the role of genetics in its pathobiology is poorly characterized. This review summarizes the latest research on sIA genetics, focusing on the large genome-wide association study (GWAS) approach.
The six GWAS papers published since 2008 identified several IA risk loci in multiple populations. However, the risk exerted by these loci explains only a fraction of the observed genetic risk in sIA disease.
Improved sequencing techniques, such as whole exome or genome sequencing, may further clarify the role of genetics in sIA disease. Population-specific loci in isolates may reveal novel pathways associated with sIA disease. The ultimate goal is to develop therapies that prevent the formation, growth, and rupture of sIAs.
KeywordsSaccular intracranial aneurysm Genetics Subarachnoid hemorrhage
Compliance with Ethical Standards
Conflict of Interest
Antti E. Lindgren, Arttu Kurtelius, and Mikael von und zu Fraunberg declare that they have no conflicts of interest.
Human and Animal Rights and Informed Consent
This review article did not involve any studies with human or animal subjects that were performed by any of the authors.
Papers of particular interest, published recently, have been highlighted as: •Of importance •• Of major importance
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