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The association between the ring finger protein 213 (RNF213) polymorphisms and moyamoya disease susceptibility: a

Xun-Sha Sun1, Jun Wen1, Jiao-Xing Li1

  • 1Department of Neurology, First Affiliated Hospital, Sun Yat-Sen University, Guangzhou, 510080, China.

Molecular Genetics and Genomics : MGG
|February 6, 2016
PubMed

Insights

This meta-analysis confirms the ring finger protein 213 (RNF213) gene variant rs112735431 significantly increases moyamoya disease (MMD) risk in Asians, particularly Japanese individuals. Combined screening of RNF213 variants may enhance MMD detection in China.

Area of Science:

  • Genetics
  • Neurology
  • Epidemiology

Background:

  • Moyamoya disease (MMD) is a rare cerebrovascular disorder characterized by progressive stenosis of the terminal internal carotid arteries.
  • The association between ring finger protein 213 (RNF213) gene polymorphisms and MMD risk has been investigated, but findings remain inconsistent.
  • RNF213 is a susceptibility gene for MMD, particularly in East Asian populations.

Purpose of the Study:

  • To conduct a meta-analysis to comprehensively evaluate the association between RNF213 gene polymorphisms and MMD risk in the Asian population.
  • To clarify the inconsistent results from previous individual studies.
  • To identify specific RNF213 variants associated with MMD and explore potential ethnic differences.

Main Methods:

  • A systematic literature search was performed across multiple databases (PubMed, MEDLINE, EMBASE, etc.) up to March 2015.
  • Eight relevant studies comprising 904 MMD patients and 2258 controls were included in the meta-analysis.
  • Statistical analyses utilized STATA 12.0, employing fixed or random effects models, subgroup analysis, sensitivity analysis, and publication bias assessment.

Main Results:

  • The RNF213 polymorphism rs112735431 demonstrated a strong association with MMD risk across all genetic models in the Asian population (dominant model: OR 103.39; recessive model: OR 16.45; additive model: OR 61.49).
  • This association was particularly pronounced in the Japanese population, and subgroup analysis indicated a significantly higher risk in patients with a family history of MMD.
  • While rs148731719 showed no significant association, rs138130613 was linked to an increased MMD risk in the Chinese population (dominant model: OR 8.34).

Conclusions:

  • The RNF213 variant rs112735431 is significantly associated with an increased risk of moyamoya disease in the Japanese population.
  • The combination of screening for RNF213 polymorphisms rs112735431 and rs138130613 may improve the diagnostic rate for MMD in China.
  • Further research is warranted to elucidate the precise mechanisms underlying the RNF213-MMD association and its ethnic variations.
Keywords:
Meta-analysisMoyamoya diseasePolymorphismsRing finger protein 213

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