Meta-analysis of the association between RNF213 polymorphisms and clinical features of moyamoya disease in Asian population.

Background: We performed this study to explore the relationship between ring finger protein 213 (RNF213) gene polymorphisms and clinical features in moyamoya disease (MMD).

Methods: Electronic databases (PubMed, Google Scholar, Embase, Scopus, Cochrane Library) were conducted from inception to May 15th, 2022. Odds ratios (ORs) with 95 % confidence intervals (CIs) were generated as effect size for binary variants. Subgroup analyses were performed by the RNF213 polymorphisms. Sensitivity was used to examine the robustness of associations.

Results: A total of 16 articles and 3061 MMD patients were included and the association of five RNF213 polymorphisms on 9 clinical features of MMD were identified. Patients under 18 years of age at onset, familial MMD, cerebral ischemic stroke and posterior cerebral artery involvement (PCi) were significantly more common in mutant type compared with wild type of RNF213. Compared with each wild type, subgroup analysis showed that rs11273543 and rs9916351 remarkably increased risk of MMD on early onset, but rs371441113 evidently delayed the onset of MMD. Rs112735431 in mutant type was significantly higher than wild type in patients with PCi. Subgroup analysis in mutant type showed that rs112735431 conspicuously decreased intracerebral/ intraventricular hemorrhage (ICH/IVH) risk and yet rs148731719 obviously increased the risk in ICH/IVH.

Conclusion: More attention should be paid to patients on whom the ischemic MMD occurs younger than 18 years old. RNF213 polymorphism screening and cerebrovascular imaging examination should be performed to evaluate intracranial vascular involvement, to achieve early detection and early treatment and avoid more serious cerebrovascular events.