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RNF213 polymorphism and Moyamoya disease: A systematic review and meta-analysis

Junpeng Ma1, Yi Liu, Lu Ma

  • 1Department of Neurosurgery, West China Hospital, Sichuan University, Chengdu, China.

Neurology India
|March 8, 2013
PubMed
Abstract

Insights

This meta-analysis confirms strong associations between RNF213 gene polymorphisms (p.R4810K and p.R4859K) and Moyamoya disease (MMD) susceptibility. These findings may aid in early MMD diagnosis and prevention strategies.

Area of Science:

  • Genetics
  • Neurology
  • Epidemiology

Background:

  • Recent studies highlight RNF213 as a key Moyamoya disease (MMD) susceptibility gene.
  • Previous research was limited by small sample sizes, diverse methodologies, and varying ethnicities.

Purpose of the Study:

  • To investigate the association between RNF213 gene polymorphisms (p.R4810K and p.R4859K) and MMD susceptibility using a meta-analysis.
  • To consolidate evidence from multiple studies to provide a more robust assessment of the genetic risk.

Main Methods:

  • A comprehensive meta-analysis was conducted, searching PubMed, Medline, and Embase databases for relevant studies published before October 2012.
  • Data from five eligible studies, including analyses of p.R4810K (421 cases, 1214 controls) and p.R4859K (398 cases, 765 controls) polymorphisms, were pooled using Cochrane RevMan software.
  • Fixed-effects and random-effects models were employed to calculate summary odds ratios (ORs) and 95% confidence intervals (CIs).

Main Results:

  • The meta-analysis revealed significant associations between both RNF213 p.R4810K and p.R4859K polymorphisms and MMD risk.
  • Pooled results indicated strong associations: OR 92.03 (95% CI 54.06-156.65, P < 0.00001) for p.R4810K and OR 157.53 (95% CI 85.37-290.7, P < 0.00001) for p.R4859K.
  • Stratified analyses by ethnicity showed higher population attributable risks in Japanese and Korean populations compared to the Chinese population (P = 0.0006).

Conclusions:

  • This meta-analysis strongly supports the association between RNF213 p.R4859K and p.R4810K polymorphisms and Moyamoya disease.
  • These genetic findings offer potential for improving early diagnosis and prevention strategies for MMD.
  • Further research is warranted to elucidate the precise biochemical functions and pathological roles of RNF213 in MMD pathogenesis.

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