Expressive

rs11646044 - BCAR1 - RNU6-758P

Magnitude 2.2 · 1 study on file

Reported associations

  • Genome-wide association study of intracranial aneurysms identifies 17 risk loci and genetic overlap with clinical risk factors - Unknown journal (n.d.) · Unknown authors · PubMed 33199917

    ABSTRACT: Rupture of an intracranial aneurysm leads to subarachnoid hemorrhage, a severe type of stroke. To discover new genetic loci and the genetic architecture of intracranial aneurysms, we performed a cross-ethnic, genome-wide association study in 10,754 cases and 306,882 controls of European and East Asian ancestry. We discovered 17 risk loci, 11 of which are new. We reveal a polygenic architecture and explain over half of the disease heritability. We show a high genetic correlation between ruptured and unruptured intracranial aneurysms. A suggestive role for endothelial cells is found using gene mapping and heritability enrichment. Drug target enrichment shows pleiotropy between intracranial aneurysms and anti-epileptic and sex hormone drugs, providing insights into intracranial aneu

Auto-generated from study metadata. AI-synthesised commentary is added when this entry is regenerated through content-service's LLM mode.

Lifestyle context

Concrete actions anchored to the cited research. We do not prescribe, we describe.

Discuss with your doctor

  • intracranial aneurysm screening options Moderate

    This variant is strongly associated with increased intracranial aneurysm risk (GWAS p=5e-11), warranting individualized risk assessment.

    Discuss screening recommendations and whether brain imaging is appropriate for your risk profile.

Lifestyle

  • blood pressure Moderate

    Hypertension is a major modifiable risk factor for intracranial aneurysm development and rupture, particularly relevant given increased IA risk from this variant.

    Monitor regularly; aim for systolic <140 mmHg, diastolic <90 mmHg.

  • smoking Moderate

    Smoking increases intracranial aneurysm risk and significantly increases rupture risk.

Screening

  • brain imaging for intracranial aneurysm detection Moderate

    Early detection of asymptomatic intracranial aneurysms enables preventive treatment before rupture.

    After discussion with healthcare provider, consider CT/MRA brain imaging screening.