ArticleCirculation. Cardiovascular genetics2009
EPHB4 gene polymorphisms and risk of intracranial hemorrhage in patients with brain arteriovenous malformations.
Article in Circulation. Cardiovascular genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 35 citations in OpenAlex.
- Methodological quality assessment of genetic studies on brain arteriovenous malformation related hemorrhage: A cross-sectional study.Frontiers in genetics · 2023Pooled it
- Towards precision medicine for brain arteriovenous malformations.The Journal of clinical investigation · 2026Review
- Development and Validation of a Scoring System for Hemorrhage Risk in Brain Arteriovenous Malformations.JAMA network open · 2023Review
- Childhood stroke.Nature reviews. Disease primers · 2022Review
- Review of treatment and therapeutic targets in brain arteriovenous malformation.Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism · 2021Review
- Assessing the association of common genetic variants in EPHB4 and RASA1 with phenotype severity in familial cerebral cavernous malformation.Molecular genetics & genomic medicine · 2021Article
- Association of common candidate variants with vascular malformations and intracranial hemorrhage in hereditary hemorrhagic telangiectasia.Molecular genetics & genomic medicine · 2018Article
- Hemorrhage rates and risk factors in the natural history course of brain arteriovenous malformations.Translational stroke research · 2014Review
- Vascular disruption and blood-brain barrier dysfunction in intracerebral hemorrhage.Fluids and barriers of the CNS · 2014Review
- Brain Vascular Malformation Consortium: Overview, Progress and Future Directions.The Journal of rare disorders · 2013Article
- G Protein-Coupled Receptor 124 (GPR124) Gene Polymorphisms and Risk of Brain Arteriovenous Malformation.Translational stroke research · 2012Article
- Concurrent intracranial and spinal arteriovenous malformations: Report of two pediatric cases and literature review.Surgical neurology international · 2012Article
- Over-expression of Ephb4 is associated with carcinogenesis of gastric cancer.Digestive diseases and sciences · 2011Article
- Brain arteriovenous malformation pathogenesis: a response-to-injury paradigm.Acta neurochirurgica. Supplement · 2011Article
- Angiopoietin-like 4 (ANGPTL4) gene polymorphisms and risk of brain arteriovenous malformations.Cerebrovascular diseases (Basel, Switzerland) · 2011Article
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
Abstract
backgroundBrain arteriovenous malformations (BAVMs) are a tangle of abnormal vessels directly shunting blood from the arterial to venous circulation and an important cause of intracranial hemorrhage (ICH). EphB4 is involved in arterial-venous determination during embryogenesis; altered signaling could lead to vascular instability resulting in ICH. We investigated the association of single-nucleotide polymorphisms (SNPs) and haplotypes in EPHB4 with risk of ICH at clinical presentation in patients with BAVM. METHODS AND
resultsEight haplotype-tagging SNPs spanning approximately 29 kb were tested for association with ICH presentation in 146 white patients with BAVM (phase I: 56 ICH, 90 non-ICH) using allelic, haplotypic, and principal components analysis. Associated SNPs were then genotyped in 102 additional cases (phase II: 37 ICH, 65 non-ICH), and data were combined for multivariable logistic regression. Minor alleles of 2 SNPs were associated with reduced risk of ICH presentation (rs314313_C, P=0.005; rs314308_T, P=0.0004). Overall, haplotypes were also significantly associated with ICH presentation (chi(2)=17.24, 6 df, P=0.008); 2 haplotypes containing the rs314308 T allele (GCCTGGGT, P=0.003; GTCTGGGC, P=0.036) were associated with reduced risk. In principal components analysis, 2 components explained 91% of the variance and complemented haplotype results by implicating 4 SNPs at the 5' end, including rs314308 and rs314313. These 2 SNPs were replicated in the phase II cohort, and combined data resulted in greater significance (rs314313, P=0.0007; rs314308, P=0.00008). SNP association with ICH presentation persisted after adjusting for age, sex, BAVM size, and deep venous drainage.
conclusionsEPHB4 polymorphisms are associated with risk of ICH presentation in patients with BAVM, warranting further study.
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