Association between RNF213 c.14576G>A Variant (rs112735431) and Peripheral Pulmonary Artery Stenosis in Moyamoya Disease.

Adenosine Triphosphatases / genetics Adolescent Case-Control Studies Child Female Genetic Predisposition to Disease Humans Moyamoya Disease / diagnostic imaging Retrospective Studies Stenosis, Pulmonary Artery Ubiquitin-Protein Ligases / genetics
Homozygote Moyamoya disease Peripheral pulmonary artery stenosis Polymorphism RNF213

Journal

Cerebrovascular diseases (Basel, Switzerland)
ISSN: 1421-9786
Titre abrégé: Cerebrovasc Dis
Pays: Switzerland
ID NLM: 9100851

Informations de publication

Date de publication:
2022
Historique:
received: 24 07 2021
accepted: 09 09 2021
pubmed: 29 10 2021
medline: 6 5 2022
entrez: 28 10 2021
Statut: ppublish

Résumé

Moyamoya disease (MMD) and peripheral pulmonary artery stenosis (PPAS) are relatively rare and demonstrate steno-occlusive vascular lesions in different organs. Genetic studies identified RNF213 polymorphism c.14576G>A (rs112735431) as a susceptibility variant for East Asian MMD. RNF213 polymorphism c.14576G>A is further associated with various vascular lesions of other organs. In this study, we aimed to clarify the incidence and clinical manifestations of PPAS in MMD patients and analyze the correlation between RNF213 genotype and PPAS. This retrospective case-control study investigated the association between RNF213 polymorphism and PPAS in 306 MMD/quasi-MMD patients, reviewing the medical charts and imaging records of consecutive patients with MMD admitted from January 2015 to December 2020. PPAS was observed in 3 MMD/quasi-MMD patients (0.98%, 3/306). RNF213 polymorphism c.14576G>A was determined for all 306 MMD/quasi-MMD patients. The incidence of PPAS in RNF213-wildtype, RNF213-heterozygote, and RNF213-homozygote MMD/quasi-MMD patients was 0% (0/101), 0.5% (1/200), and 40% (2/5), respectively. The association between PPAS and homozygote polymorphism of RNF213 c.14576G>A was statistically significant in MMD/quasi-MMD patients (p = 0.0018). In all cases, pulmonary artery hypertension due to PPAS was evident during their childhood and young adolescent stages. Surgical indications for MMD were discouraged in 1 case due to her severe cardiopulmonary dysfunction. The homozygote variant of RNF213 polymorphism c.14576G>A can be a potential predisposing factor for PPAS in MMD/quasi-MMD patients. Despite the relatively rare entity, PPAS should be noted to determine surgical indications for MMD/quasi-MMD patients.

Sections du résumé

BACKGROUND
Moyamoya disease (MMD) and peripheral pulmonary artery stenosis (PPAS) are relatively rare and demonstrate steno-occlusive vascular lesions in different organs. Genetic studies identified RNF213 polymorphism c.14576G>A (rs112735431) as a susceptibility variant for East Asian MMD. RNF213 polymorphism c.14576G>A is further associated with various vascular lesions of other organs. In this study, we aimed to clarify the incidence and clinical manifestations of PPAS in MMD patients and analyze the correlation between RNF213 genotype and PPAS.
METHODS
This retrospective case-control study investigated the association between RNF213 polymorphism and PPAS in 306 MMD/quasi-MMD patients, reviewing the medical charts and imaging records of consecutive patients with MMD admitted from January 2015 to December 2020.
RESULTS
PPAS was observed in 3 MMD/quasi-MMD patients (0.98%, 3/306). RNF213 polymorphism c.14576G>A was determined for all 306 MMD/quasi-MMD patients. The incidence of PPAS in RNF213-wildtype, RNF213-heterozygote, and RNF213-homozygote MMD/quasi-MMD patients was 0% (0/101), 0.5% (1/200), and 40% (2/5), respectively. The association between PPAS and homozygote polymorphism of RNF213 c.14576G>A was statistically significant in MMD/quasi-MMD patients (p = 0.0018). In all cases, pulmonary artery hypertension due to PPAS was evident during their childhood and young adolescent stages. Surgical indications for MMD were discouraged in 1 case due to her severe cardiopulmonary dysfunction.
CONCLUSIONS
The homozygote variant of RNF213 polymorphism c.14576G>A can be a potential predisposing factor for PPAS in MMD/quasi-MMD patients. Despite the relatively rare entity, PPAS should be noted to determine surgical indications for MMD/quasi-MMD patients.

Identifiants

DOI: 10.1159/000519717 PMID: 34710878
pubmed: 34710878
pii: 000519717
doi: 10.1159/000519717
doi:

Substances chimiques

RNF213 protein, human EC 2.3.2.27
Ubiquitin-Protein Ligases EC 2.3.2.27
Adenosine Triphosphatases EC 3.6.1.-

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

282-287

Informations de copyright

© 2021 The Author(s). Published by S. Karger AG, Basel.

Auteurs

Dan Ozaki (D)

Department of Neurosurgery, Tohoku University Graduate School of Medicine, Sendai, Japan.

Hidenori Endo (H)

Department of Neurosurgery, Tohoku University Graduate School of Medicine, Sendai, Japan.
Department of Neurosurgery, Kohnan Hospital, Sendai, Japan.
Division of Advanced Cerebrovascular Surgery, Tohoku University Graduate School of Medicine, Sendai, Japan.

Ryosuke Tashiro (R)

Department of Neurosurgery, Tohoku University Graduate School of Medicine, Sendai, Japan.

Koichiro Sugimura (K)

Department of Cardiology, International University of Health and Welfare Narita Hospital, Narita, Chiba, Japan.

Shunsuke Tatebe (S)

Department of Cardiovascular Medicine, Tohoku University Graduate School of Medicine, Sendai, Japan.

Satoshi Yasuda (S)

Department of Cardiovascular Medicine, Tohoku University Graduate School of Medicine, Sendai, Japan.

Yasutake Tomata (Y)

Faculty of Health and Social Services, Kanagawa University of Human Services, Yokosuka, Japan.

Toshiki Endo (T)

Department of Neurosurgery, Tohoku University Graduate School of Medicine, Sendai, Japan.
Department of Neurosurgical Engineering and Translational Neuroscience, Tohoku University Graduate School of Medicine, Sendai, Japan.

Keita Tominaga (K)

Department of Neurosurgery, Tohoku University Graduate School of Medicine, Sendai, Japan.

Kuniyasu Niizuma (K)

Department of Neurosurgery, Tohoku University Graduate School of Medicine, Sendai, Japan.
Department of Neurosurgical Engineering and Translational Neuroscience, Tohoku University Graduate School of Medicine, Sendai, Japan.
Department of Neurosurgical Engineering and Translational Neuroscience, Graduate School of Biomedical Engineering, Tohoku University, Sendai, Japan.

Miki Fujimura (M)

Department of Neurosurgery, Hokkaido University Graduate School of Medicine, Sapporo, Japan.

Teiji Tominaga (T)

Department of Neurosurgery, Tohoku University Graduate School of Medicine, Sendai, Japan.

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Classifications MeSH

questionsmedicales.fr › Enzymes et coenzymes › Enzymes › Hydrolases › Acid anhydride hydrolases › Adenosine triphosphatases › Association between RNF213 c.14576G>A Variant...
questionsmedicales.fr › Personnes › Tranches d'âge › Adolescent › Association between RNF213 c.14576G>A Variant...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Caractéristiques des études épidémiologiques › Études épidémiologiques › Études cas-témoins › Association between RNF213 c.14576G>A Variant...
questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › Association between RNF213 c.14576G>A Variant...
questionsmedicales.fr › Phénomènes génétiques › Génotype › Prédisposition génétique à une maladie › Association between RNF213 c.14576G>A Variant...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Association between RNF213 c.14576G>A Variant...
questionsmedicales.fr › Maladies cardiovasculaires › Maladies vasculaires › Angiopathies intracrâniennes › Artériopathies intracrâniennes › Artériopathies cérébrales › Maladie de Moya-Moya › Association between RNF213 c.14576G>A Variant...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Caractéristiques des études épidémiologiques › Études épidémiologiques › Études de cohortes › Études rétrospectives › Association between RNF213 c.14576G>A Variant...
questionsmedicales.fr › Maladies cardiovasculaires › Maladies vasculaires › Artériopathies oblitérantes › Sténose de l'artère pulmonaire › Association between RNF213 c.14576G>A Variant...
questionsmedicales.fr › Enzymes et coenzymes › Enzymes › Ligases › Ubiquitin-protein ligase complexes › Ubiquitin-protein ligases › Association between RNF213 c.14576G>A Variant...