title: RNF213 polymorphism and Moyamoya disease: A systematic review and meta-analysis.
abstract: BACKGROUND
  Recent genome-wide and locus-specific association studies identified RNF213 as an important Moyamoya disease (MMD) susceptibility gene. But the results of these studies are limited by the few subjects, different methodologies and ethnicities.
  
  
  OBJECTIVE
  To investigate the association between p.R4810K (rs 112735431, ss179362673; G > A) and p.R4859K (c.14576 G > A) polymorphisms of the RNF213 gene and MMD susceptibility.
  
  
  METHODS
  We conducted a meta-analysis to evaluate the association.
  
  
  METHODS
  Two investigators independently searched the PubMed, Medline, and Embase databases for studies published before October 2012. For included studies, we performed meta-analyses using Cochrane RevMan software.
  
  
  METHODS
  Summary odds ratios (ORs) and 95% confidence intervals (CIs) for RNF213 p.R4810K and p.R4859K polymorphisms; MMD were calculated in a fixed-effects model and a random effects model whenever appropriate.
  
  
  RESULTS
  Five eligible studies were reviewed and analyzed, which included two studies for p.R4810K polymorphisms (421 cases and 1214 controls) and three studies for p.R4859K polymorphisms (398 cases and 765 controls). Overall, the pooled results indicated that both p.R4810K polymorphisms and p.R4859K polymorphisms were associated with MMD risk (OR 92.03, 95% CI 54.06-156.65, P < 0.00001 and OR 157.53, 95% CI 85.37-290.7, P < 0.00001, respectively). Stratified analyses by ethnicity revealed the population attributable risks in the Japanese and Korean populations were larger than that in the Chinese population (P =0.0006).
  
  
  CONCLUSIONS
  This meta-analysis demonstrated that there are strong associations between p.R4859K and p.R4810K polymorphisms of the RNF213 gene and MMD. The discoveries of its association with MMD may help in early diagnosis and prevention of this disease. Further study is still necessary to clarify the biochemical function and pathological role of RNF213 in MMD.
authors: Department of Neurosurgery, West China Hospital, Sichuan University, Chengdu, China.
authors: Junpeng
authors: J
authors: Ma
authors: Yi
authors: Y
authors: Liu
authors: Lu
authors: L
authors: Ma
authors: Siqing
authors: S
authors: Huang
authors: Hao
authors: H
authors: Li
authors: Chao
authors: C
authors: You
mesh_terms: D000251:Adenosine Triphosphatases; D044466:Asian People / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006801:Humans; D009072:Moyamoya Disease / Q000235:genetics*; D011110:Polymorphism, Genetic; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*
chemical_list: C557998:RNF213 protein, human; D044767:Ubiquitin-Protein Ligases; D000251:Adenosine Triphosphatases