Evidence map›Paper›PMID 41073586›Full record

ArticleScientific reports2025

RNF213 c.14429G > A (p.Arg4810Lys) is associated with non-arteritic retinal artery occlusion.

Daisuke Shimada, Satoru Miyawaki, Kaoru Nakanishi, Takashi Jono, Hibiku Maruoka, Takuya Kawa, Yoshie Matsumoto, Shogo Dofuku, Hiroki Hongo, Jun Mitsui and 11 more

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Article in Scientific reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed
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1 · What the graph read from 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.

2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

21 authors.

Daisuke Shimada *Department of Neurosurgery, Faculty of Medicine, Kyorin University, Tokyo, Japan.ORCID https://orcid.org/0009-0006-2965-2418
Satoru Miyawaki *Department of Neurosurgery, Faculty of Medicine, The University of Tokyo, 7-3-1 Hongo, , Bunkyo-Ku, Tokyo, 113-8655, Japan. smiya-nsu@m.u-tokyo.ac.jp.ORCID https://orcid.org/0000-0001-6369-3391
Kaoru NakanishiDepartments of Stroke and Cerebrovascular Medicine, Faculty of Medicine, Kyorin University, Tokyo, Japan.
Takashi JonoDepartments of Stroke and Cerebrovascular Medicine, Faculty of Medicine, Kyorin University, Tokyo, Japan.
Hibiku MaruokaDepartments of Stroke and Cerebrovascular Medicine, Faculty of Medicine, Kyorin University, Tokyo, Japan.
Takuya KawaDepartment of Neurosurgery, Koyama Memorial Hospital, Ibaraki, Japan.
Yoshie MatsumotoDepartment of Neurosurgery, Faculty of Medicine, Kyorin University, Tokyo, Japan.
Shogo DofukuDepartment of Neurosurgery, Faculty of Medicine, The University of Tokyo, 7-3-1 Hongo, , Bunkyo-Ku, Tokyo, 113-8655, Japan.
Hiroki HongoDepartment of Neurosurgery, Faculty of Medicine, The University of Tokyo, 7-3-1 Hongo, , Bunkyo-Ku, Tokyo, 113-8655, Japan.
Jun MitsuiMedical Genome Research Support Center, The University Tokyo Hospital, Tokyo, Japan.
Yu TeranishiDepartment of Neurosurgery, Faculty of Medicine, The University of Tokyo, 7-3-1 Hongo, , Bunkyo-Ku, Tokyo, 113-8655, Japan.
Kenta OharaDepartment of Neurosurgery, Faculty of Medicine, The University of Tokyo, 7-3-1 Hongo, , Bunkyo-Ku, Tokyo, 113-8655, Japan.
Daiichiro IshigamiDepartment of Neurosurgery, Faculty of Medicine, The University of Tokyo, 7-3-1 Hongo, , Bunkyo-Ku, Tokyo, 113-8655, Japan.
Yu SakaiDepartment of Neurosurgery, Faculty of Medicine, The University of Tokyo, 7-3-1 Hongo, , Bunkyo-Ku, Tokyo, 113-8655, Japan.
Dai ItoDepartment of Ophthalmology, Faculty of Medicine, Kyorin University, Tokyo, Japan.
Yumi KusumiDepartment of Ophthalmology, Faculty of Medicine, Kyorin University, Tokyo, Japan.
Hiroyuki KawanoDepartments of Stroke and Cerebrovascular Medicine, Faculty of Medicine, Kyorin University, Tokyo, Japan.
Akio NoguchiDepartment of Neurosurgery, Faculty of Medicine, Kyorin University, Tokyo, Japan.
Nobuhito SaitoDepartment of Neurosurgery, Faculty of Medicine, The University of Tokyo, 7-3-1 Hongo, , Bunkyo-Ku, Tokyo, 113-8655, Japan.
Teruyuki HiranoDepartments of Stroke and Cerebrovascular Medicine, Faculty of Medicine, Kyorin University, Tokyo, Japan.
Yoshiaki ShiokawaDepartment of Neurosurgery, Faculty of Medicine, Kyorin University, Tokyo, Japan.

Funding

Japan Society for the Promotion of Science Grants-in-Aid for Scientific Research (KAKENHI) 23H03018
6 · The paper itself

Abstract

Retinal artery occlusion (RAO) results in severe visual impairment and may indicate cerebral infarction and extracranial carotid artery stenosis at onset. RAO-related genetic factors remain understudied. We investigated the association between RAO and RNF213 p.Arg4810Lys (c.14429G > A), a genetic variant recently identified as a susceptibility factor for moyamoya disease, a risk factor for stroke. Patients diagnosed with non-arteritic (NA)-RAO at our department between May 2020 and April 2021 underwent magnetic resonance imaging and computed tomography angiography. Sanger sequencing revealed that RNF213 p.Arg4810Lys was significantly more frequent in the NA-RAO group (10.7%) than in the control group (1.1%). We conducted a logistic regression analysis adjusted for age and sex to compare the NA-RAO (n = 28) and healthy control groups (n = 1,202), which indicated a significant association between RNF213 p.Arg4810Lys and NA-RAO (P = 0.001, odds ratio 13.52, 95% confidence interval [3.09-59.18]). Among patients with NA-RAO, 50%, 76%, and 40% had simultaneous strokes, hypertension, and diabetes, respectively. There were no significant differences between groups in medical history, biomarkers, imaging characteristics, or ophthalmic artery diameter. RNF213 p.Arg4810Lys was significantly associated with NA-RAO, indicating genetic susceptibility to systemic vascular diseases. Further studies can elucidate broader implications of RNF213 p.Arg4810Lys in vascular disease pathogenesis, particularly in East Asian populations.

Indexed as

Adenosine TriphosphatasesRetinal Artery OcclusionUbiquitin-Protein LigasesAdultAgedCase-Control StudiesFemaleGenetic Predisposition to DiseaseHumansMaleMiddle AgedMoyamoya DiseaseRisk FactorsAdenosine TriphosphatasesRNF213 protein, humanUbiquitin-Protein LigasesArtery stenosisGenetic variantNon-arteritic retinal artery occlusionRetinal artery occlusionRisk factorsRNF213 p.Arg4810Lys

Identifiers

PMID41073586
PMCPMC12514059

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