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Review
. 2018 Dec 20:2018:6359174.
doi: 10.1155/2018/6359174. eCollection 2018.

RNF213 Variant Diversity Predisposes Distinct Populations to Dissimilar Cerebrovascular Diseases

Jing Lin  1 , Wenli Sheng  1
Affiliations
Review

RNF213 Variant Diversity Predisposes Distinct Populations to Dissimilar Cerebrovascular Diseases

Jing Lin et al. Biomed Res Int. .

Abstract

In recent years, the ring finger protein 213 gene (RNF213) has gradually attracted attention, mainly because it has been found that RNF213 c.14429 G>A is associated with moyamoya disease (MMD) in East Asian populations. Recent studies have revealed that RFN213 is not only associated with MMD but is also connected with intracranial major artery stenosis/occlusion (ICASO) and intracranial aneurysm (IA). However, only the relationship between RNF213 c.14429 G>A and ICASO has been confirmed, and whether RNF213 has other mutations related to ICASO remains unclear. RNF213 and IA are currently only confirmed to be correlated in French-Canadian Population and no correlation has been found in the Japanese population. This review summarizes the advances in the associations between RNF213 and different cerebrovascular diseases and highlights that variant diversity of RNF213 may predispose distinct populations to dissimilar cerebrovascular diseases.

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Figures

Figure 1
Figure 1
RNF213 Nucleotide Variants Found In MMD, IA, and ICASO. Variants associated with MMD are marked in red; variants associated with IA are marked in blue; variants associated with ICASO are marked in green; red box represent variants in RING finger domain related to MMD; blue box represent variants in AAA+ATPases domain related to IA. Two special variants (c.13195G>A and c.14429G>A) are associated with different type MMD, respectively.
See this image and copyright information in PMC

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