ArticleAmerican journal of human genetics2018
Rare Coding Variants in ANGPTL6 Are Associated with Familial Forms of Intracranial Aneurysm.
Article in American journal of human genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed.
- Whole-exome sequencing identifies matrisomal gene associations in monogenic cerebral small vessel disease.Journal of neurology · 2026Article
- Putative multiple myeloma susceptibility genes identified by exome sequencing of 347 familial and early-onset cases.Leukemia · 2026Article
- Real-World Data from the First Intracranial Aneurysm Cohort in the Eastern Caribbean from 2021 to 2024: The Population Characteristics, Treatment Outcomes, and Effectiveness of the Newly Established Regional Organization with Air Transfer to the First Tertiary Neurointerventional Center in the Eastern Caribbean.Journal of clinical medicine · 2025Article
- Review
- 2025 Heart Disease and Stroke Statistics: A Report of US and Global Data From the American Heart Association.Circulation · 2025Review
- 2024 Heart Disease and Stroke Statistics: A Report of US and Global Data From the American Heart Association.Circulation · 2024Review
- Heart Disease and Stroke Statistics-2023 Update: A Report From the American Heart Association.Circulation · 2023Review
- Mean arterial pressure-aneurysm neck ratio predicts the rupture risk of intracranial aneurysm by reflecting pressure at the dome.Frontiers in aging neuroscience · 2023Article
- Developing and reusing bioinformatics data analysis pipelines using scientific workflow systems.Computational and structural biotechnology journal · 2023Review
- Activated leukocyte cell adhesion molecule/cluster of differentiation 166 rs10933819 (G>A) variant is associated with familial intracranial aneurysms.Biomedical reports · 2022Article
- Whole Exome Sequencing in Patients with Phenotypically Associated Familial Intracranial Aneurysm.Korean journal of radiology · 2022Article
- Whole-exome sequencing in a Japanese multiplex family identifies new susceptibility genes for intracranial aneurysms.PloS one · 2022Article
- PPIL4 is essential for brain angiogenesis and implicated in intracranial aneurysms in humans.Nature medicine · 2021Article
- Rare Neurovascular Diseases in Korea: Classification and Related Genetic Variants.Korean journal of radiology · 2021Review
- Heart Disease and Stroke Statistics-2021 Update: A Report From the American Heart Association.Circulation · 2021Article
- Article
- Integrated Transcriptional Profiling Analysis and Immune-Related Risk Model Construction for Intracranial Aneurysm Rupture.Frontiers in neuroscience · 2021Article
- Genome-wide association study of intracranial aneurysms identifies 17 risk loci and genetic overlap with clinical risk factors.Nature genetics · 2020Article
- Exome sequencing in 38 patients with intracranial aneurysms and subarachnoid hemorrhage.Journal of neurology · 2020Article
- Translational Genomics in Neurocritical Care: a Review.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2020Review
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22 authors.
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Abstract
Intracranial aneurysms (IAs) are acquired cerebrovascular abnormalities characterized by localized dilation and wall thinning in intracranial arteries, possibly leading to subarachnoid hemorrhage and severe outcome in case of rupture. Here, we identified one rare nonsense variant (c.1378A>T) in the last exon of ANGPTL6 (Angiopoietin-Like 6)-which encodes a circulating pro-angiogenic factor mainly secreted from the liver-shared by the four tested affected members of a large pedigree with multiple IA-affected case subjects. We showed a 50% reduction of ANGPTL6 serum concentration in individuals heterozygous for the c.1378A>T allele (p.Lys460Ter) compared to relatives homozygous for the normal allele, probably due to the non-secretion of the truncated protein produced by the c.1378A>T transcripts. Sequencing ANGPTL6 in a series of 94 additional index case subjects with familial IA identified three other rare coding variants in five case subjects. Overall, we detected a significant enrichment (p = 0.023) in rare coding variants within this gene among the 95 index case subjects with familial IA, compared to a reference population of 404 individuals with French ancestry. Among the 6 recruited families, 12 out of 13 (92%) individuals carrying IA also carry such variants in ANGPTL6, versus 15 out of 41 (37%) unaffected ones. We observed a higher rate of individuals with a history of high blood pressure among affected versus healthy individuals carrying ANGPTL6 variants, suggesting that ANGPTL6 could trigger cerebrovascular lesions when combined with other risk factors such as hypertension. Altogether, our results indicate that rare coding variants in ANGPTL6 are causally related to familial forms of IA.
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