rs10782008
|
|
G |
0.700 |
GeneticVariation |
GWASCAT |
Novel Susceptibility Loci for Moyamoya Disease Revealed by a Genome-Wide Association Study.
|
29273593 |
2018 |
rs112735431
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The frequency of p.R4810K carriers was significantly higher in quasi-moyamoya disease cases than in controls (66.7% versus 2.2%, odds ratio 89.0, 95% confidence interval: 19.2-669.4).
|
27476341 |
2016 |
rs112735431
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Sixteen of 46 variants were polymorphisms with minor allele frequency >1%, and, after conditioning on the p.R4810K genotype, were not associated with MMD.
|
25964206 |
2015 |
rs112735431
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Biochemical and Functional Characterization of RNF213 (Mysterin) R4810K, a Susceptibility Mutation of Moyamoya Disease, in Angiogenesis In Vitro and In Vivo.
|
26126547 |
2015 |
rs112735431
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The moyamoya disease susceptibility variant RNF213 R4810K (rs112735431) induces genomic instability by mitotic abnormality.
|
23994138 |
2013 |
rs112735431
|
|
|
0.100 |
GeneticVariation |
BEFREE |
RNF213 p.R4810K was associated with MMD, ICASO, and quasi-MMD in different genetic models.
|
29752070 |
2018 |
rs112735431
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The ischemic type MMD is particularly related to the R4810K mutation.
|
23110205 |
2012 |
rs112735431
|
|
|
0.100 |
GeneticVariation |
BEFREE |
This meta-analysis demonstrated that there are strong associations between p.R4859K and p.R4810K polymorphisms of the RNF213 gene and MMD.
|
23466837 |
2016 |
rs112735431
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Moreover, c.14</span>429G>A</span> (p.R</span</span>>4810K</span>) genotypes occurred more frequently in patients with a family history of MMD.
|
26430847 |
2016 |
rs112735431
|
|
|
0.100 |
GeneticVariation |
BEFREE |
RNF213 p.R4810K was identified as a susceptibility variant for moyamoya disease in Asia and non-moyamoya intracranial artery stenosis/occlusion disease in Japan and Korea recently.
|
29165136 |
2017 |
rs112735431
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The p.R4810K substitution in RNF213 has previously been linked to moyamoya disease in Asian populations.
|
30001348 |
2018 |
rs112735431
|
|
|
0.100 |
GeneticVariation |
BEFREE |
MDR analysis failed to detect any significant interaction among these five loci in the occurrence of M</span>MD (P>0.05), but the combination of three loci (rs112735431 in RNF213, rs3828610 in PDGFRB, rs3025058 in MMP-3) could have the maximum testing accuracy (57.29%) and cross-validation consistency (10/10).
|
23769926 |
2013 |
rs112735431
|
|
|
0.100 |
GeneticVariation |
BEFREE |
These cases highlight the effectiveness of indirect revascularization for moyamoya disease patients with the homozygous p.R4810K variant.
|
31290353 |
2019 |
rs112735431
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Recent studies have shown that a proportion of East Asian (EAS) patients with MMS possess the p.R4810K variant of RNF213 (rs112735431), the foremost susceptibility variant among EAS patients with MMD.
|
30922903 |
2019 |
rs112735431
|
|
|
0.100 |
GeneticVariation |
BEFREE |
A polymorphism (R4810K) in the Ring Finger Protein 213 (RNF213) gene, at chromosome 17q25.3, is the strongest genetic susceptibility factor for MMD in East Asian populations.
|
31650369 |
2019 |
rs112735431
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Because of a family history of Moyamoya disease (MMD), genetic analysis was performed, and revealed that this patient was homozygous for RNF213 p.Arg4810Lys.
|
28962888 |
2018 |
rs112735431
|
|
|
0.100 |
GeneticVariation |
BEFREE |
These results confirm that the RNF213 p.Arg4810Lys variant is not uncommon in the general Korean population and provide reference data for the association of this variant and MMD.
|
26590131 |
2015 |
rs112735431
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Due to a family history of moyamoya disease, a genetic investigation was performed and revealed RNF213 p.R4810K homozygous variant.
|
31806452 |
2020 |
rs112735431
|
|
|
0.100 |
GeneticVariation |
BEFREE |
On the other hand, a common missense mutation [NM_001256071.2:c.14429G>A (p.Arg4810Lys)] related to MMD in exon 60 of RNF213 was also identified by Sanger sequencing.
|
31347299 |
2019 |
rs112735431
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The variant was ring finger protein 213 (RNF213) c.14576G>A (rs112735431), which was originally identified as a susceptibility genetic variant for moyamoya disease (MMD).
|
28797616 |
2017 |
rs112735431
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The coding variant p.R4810K in RNF213 was strongly associated with moyamoya disease in the Japanese (odds ratio: 338.94, p = 1.05 × 10(-100)) and Korean (odds ratio: 135.63, p = 7.59 × 10(-27)) populations, and much less strongly associated in the Chinese population (odds ratio: 14.70, p = 2.63 × 10(-5)).
|
22688066 |
2012 |
rs112735431
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Further studies are needed to clarify the relationship between the rs112735431 polymorphism of the RNF213 and hypertension in patients with MMD.
|
28320162 |
2017 |
rs112735431
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Our meta-analysis strengthens RNF213 rs112735431 is closely associated with the increased risk of MMD in Japanese, and the screening combined with rs112735431 and rs138130613may improve the detection rate for MMD in China.
|
26847828 |
2016 |
rs112735431
|
|
|
0.100 |
GeneticVariation |
BEFREE |
These results confirm that alterations in RNF213 predispose patients of diverse ethnicities to MMD, and that the p.R4810K variant predisposes individuals of Asian descent in the United States to MMD.
|
25278557 |
2014 |
rs112735431
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Genotyping of the p.R4810K missense variant is useful for identifying individuals with an elevated risk for steno-occlusive intracranial arterial diseases in the family members of patients with moyamoya disease.
|
28506590 |
2017 |