ArticleAmerican journal of medical genetics. Part A2015
The ACVRL1 c.314-35A>G polymorphism is associated with organ vascular malformations in hereditary hemorrhagic telangiectasia patients with ENG mutations, but not in patients with ACVRL1 mutations.
Article in American journal of medical genetics. Part A, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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14 citing papers in PubMed, 18 citations in OpenAlex.
- Brain AVM compactness score in children with hereditary hemorrhagic telangiectasia.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2024Article
- De Novo Brain Vascular Malformations in Hereditary Hemorrhagic Telangiectasia.Pediatric neurology · 2024Article
- A novel frameshift mutation of the endoglin(ENG) gene causes hereditary hemorrhagic telangiectasia in a Chinese family.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery · 2024Article
- Comparing Characteristics and Treatment of Brain Vascular Malformations in Children and Adults with HHT.Journal of clinical medicine · 2023Article
- Childhood stroke.Nature reviews. Disease primers · 2022Review
- Predictors of mortality in patients with hereditary hemorrhagic telangiectasia.Orphanet journal of rare diseases · 2021Article
- Potential Second-Hits in Hereditary Hemorrhagic Telangiectasia.Journal of clinical medicine · 2020Review
- Sequence variations of ACVRL1 play a critical role in hepatic vascular malformations in hereditary hemorrhagic telangiectasia.Orphanet journal of rare diseases · 2020Article
- Genotype-Phenotype Correlations in Children with HHT.Journal of clinical medicine · 2020Article
- [Gene identification in a family of hereditary hemorrhagic telangiectasia].Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2018Article
- Association of common candidate variants with vascular malformations and intracranial hemorrhage in hereditary hemorrhagic telangiectasia.Molecular genetics & genomic medicine · 2018Article
- Intra-venous bevacizumab in hereditary hemorrhagic telangiectasia (HHT): A retrospective study of 46 patients.PloS one · 2017Observational
- Genome-wide association study of sporadic brain arteriovenous malformations.Journal of neurology, neurosurgery, and psychiatry · 2016Article
- Animal Models in Studying Cerebral Arteriovenous Malformation.BioMed research international · 2015Review
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9 authors at 3 institutions in 3 countries.
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Abstract
Hereditary hemorrhagic telangiectasia (HHT) is characterized by vascular malformations (VMs) and caused by mutations in TGFβ/BMP9 pathway genes, most commonly ENG or ACVRL1. Patients with HHT have diverse manifestations related to skin and mucosal telangiectases and organ VMs, including arteriovenous malformations (AVM). The clinical heterogeneity of HHT suggests a role for genetic modifiers. We hypothesized that the ACVRL1 c.314-35A>G and ENG c.207G>A polymorphisms, previously associated with sporadic brain AVM, are associated with organ VM in HHT. We genotyped these variants in 716 patients with HHT and evaluated association of genotype with presence of any organ VM, and specifically with brain VM, liver VM and pulmonary AVM, by multivariate logistic regression analyses stratified by HHT mutation. Among all patients with HHT, neither polymorphism was significantly associated with presence of any organ VM; ACVRL1 c.314-35A>G showed a trend toward association with pulmonary AVM (OR = 1.48, P = 0.062). ACVRL1 c.314-35A>G was significantly associated with any VM among patients with HHT with ENG (OR = 2.66, P = 0.022), but not ACVRL1 (OR = 0.79, P = 0.52) mutations. ACVRL1 c.314-35A>G was also associated with pulmonary AVM and liver VM among ENG mutation heterozygotes. There were no significant associations between ENG c.207G>A and any VM phenotype. These results suggest that common polymorphisms in HHT genes other than the mutated gene modulate phenotype severity of HHT disease, specifically presence of organ VM.
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