Back to Search
Start Over
RNF213 p.Arg4810Lys Wild Type is Associated with De Novo Hemorrhage in Asymptomatic Hemispheres with Moyamoya Disease.
- Source :
-
Translational stroke research [Transl Stroke Res] 2024 Aug; Vol. 15 (4), pp. 729-738. Date of Electronic Publication: 2023 Jun 03. - Publication Year :
- 2024
-
Abstract
- Clinical implications of RNF213 genetic variants, other than p.Arg4810Lys, in moyamoya disease (MMD), remain unclear. This study aimed to investigate the association of RNF213 variants with clinical phenotypes in MMD. This retrospective cohort study collected data regarding the clinical characteristics of 139 patients with MMD and evaluated the angioarchitectures of 253 hemispheres using digital subtraction angiography at diagnosis. All RNF213 exons were sequenced, and the associations of clinical characteristics and angiographical findings with p.Arg4810Lys, p.Ala4399Thr, and other rare variants (RVs) were examined. Among 139 patients, 100 (71.9%) had p.Arg4810Lys heterozygote (GA) and 39 (28.1%) had the wild type (GG). Fourteen RVs were identified and detetcted in 15/139 (10.8%) patients, and p.Ala4399Thr was detected in 17/139 (12.2%) patients. Hemispheres with GG and p.Ala4399Thr presented with significantly less ischemic events and more hemorrhagic events at diagnosis (p = 0.001 and p = 0.028, respectively). In asymptomatic hemispheres, those with GG were more susceptible to de novo hemorrhage than those with GA (adjusted hazard ratio [aHR] 5.36) with an increased risk when accompanied by p.Ala4399Thr or RVs (aHR 15.22 and 16.60, respectively). Within the choroidal anastomosis-positive hemispheres, GG exhibited a higher incidence of de novo hemorrhage than GA (p = 0.004). The GG of p. Arg4810Lys was a risk factor for de novo hemorrhage in asymptomatic MMD hemispheres. This risk increased with certain other variants and is observed in choroidal anastomosis-positive hemispheres. A comprehensive evaluation of RNF213 variants and angioarchitectures is essential for predicting the phenotype of asymptomatic hemispheres in MMD.<br /> (© 2023. The Author(s).)
- Subjects :
- Humans
Female
Male
Adult
Middle Aged
Retrospective Studies
Young Adult
Adolescent
Child
Angiography, Digital Subtraction
Genetic Predisposition to Disease genetics
Cohort Studies
Moyamoya Disease genetics
Moyamoya Disease complications
Moyamoya Disease diagnostic imaging
Adenosine Triphosphatases genetics
Ubiquitin-Protein Ligases genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1868-601X
- Volume :
- 15
- Issue :
- 4
- Database :
- MEDLINE
- Journal :
- Translational stroke research
- Publication Type :
- Academic Journal
- Accession number :
- 37269436
- Full Text :
- https://doi.org/10.1007/s12975-023-01159-z