Dataset Information

RNF213 p.R4810K (c.14429G > A) Variant Determines Anatomical Variations of the Circle of Willis in Cerebrovascular Disease.

ABSTRACT:

Introduction

Dysregulation of the RING finger protein 213 (RNF213) gene impairs vascular formation in experimental animal models. In addition, vascular abnormalities in the circle of Willis are associated with cerebrovascular disease. Here, we evaluated the relationship between the East Asian founder variant RNF213 p.R4810K and consequent anatomical variations in the circle of Willis in cerebrovascular disease.

Patients and methods

The present study is an observational cross-sectional study. It included patients with acute anterior circulation non-cardioembolic stroke admitted to our institution within 7 days of symptom onset or last-known-well from 2011 to 2019, and those who participated in the National Cerebral and Cardiovascular Center Biobank. We compared anatomical variations of the vessels constituting the circle of Willis between RNF213 p.R4810K (c.14429G > A) variant carriers and non-carriers using magnetic resonance angiography and assessed the association between the variants and the presence of the vessels constituting the circle of Willis. Patients with moyamoya disease were excluded.

Results

Four hundred eighty-one patients [146 women (30%); median age 70 years; median baseline National Institutes of Health Stroke Scale score 5] were analyzed. The RNF213 p.R4810K variant carriers (n = 25) were more likely to have both posterior communicating arteries (PComAs) than the variant non-carriers (n = 456) (56% vs. 13%, P < 0.01). Furthermore, variant carriers were less likely to have an anterior communicating artery (AComA) than non-carriers (68% vs. 84%, P = 0.04). In a multivariate logistic regression analysis, the association of RNF213 p.R4810K variant carriers with the presence of both PComAs and the absence of AComA remained significant.

Conclusion

Our findings suggest that the RNF213 p.R4810K variant is an important factor in determining anatomical variations in the circle of Willis.

SUBMITTER: Eto F

PROVIDER: S-EPMC8322682 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Project description:Background The anterior (AcomA) and posterior communicating arteries (PcomA) are two of the most frequent sites for intracranial aneurysms. Anatomical variations in the Circle of Willis (COW) are frequently observed in patients with AcomA and PcomA aneurysms. Strong evidence is needed to determine the pooled estimate of the effect of COW variations on the formation and rupture of these aneurysms. Aim This systematic review and meta-analysis aimed to establish the effect of COW variations on the formation and rupture of AcomA and PcomA aneurysms using available studies. Summary of review PubMed, Embase, and Web of Science databases were systematically searched for studies published in English before September 21, 2022. Studies investigating AcomA aneurysms and the hypoplastic/aplastic A1 segment of the anterior cerebral artery and PcomA aneurysms and hypoplastic/aplastic PcomA or fetal-type posterior cerebral artery (FTP) were included. The heterogeneity of the studies was assessed using Cochran Q-test and I2 statistic. Pooled estimate was assessed using either a random- or fixed-effects model based on the heterogeneity of the studies. Among the 4,932 studies, 21 were eligible and included in the analysis. The presence of hypoplastic/aplastic A1 was significantly correlated with the formation [OR (95% confidence interval [CI]) = 7.97 (5.58, 11.39), P < 0.001] and rupture [OR (95%CI) = 1.87 (1.29, 2.72), P < 0.001] of AcomA aneurysms. Significant associations between FTP and both the formation [OR (95%CI) = 2.15 (1.41, 3.30), P < 0.001] and rupture [OR (95%CI) = 1.72 (1.26, 2.36), P < 0.001] of PcomA aneurysms were observed. Conclusions Significant associations were observed between COW variations and both the formation and rupture of AcomA and PcomA aneurysms. This can help in determining interventions for patients with aneurysms. Systematic review registration https://www.crd.york.ac.uk/prospero/display_record.php?RecordID=225149, identifier: CRD42021225149.