rs6565681
|
|
A |
0.700 |
GeneticVariation |
GWASCAT |
A genome-wide association study identifies RNF213 as the first Moyamoya disease gene.
|
21048783 |
2011 |
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 |
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 |
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 |
Two MMD-associated rare variants (p.R4810K and p.A4399T) in RNF213 were identified in two patients, three BMPR2 mutations (p.Q92H, p.L198Rfs*4, and p.S930X) were found in three patients, whereas no CAV1 mutations were identified.
|
29718794 |
2019 |
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 p.R4810K substitution in RNF213 has previously been linked to moyamoya disease in Asian populations.
|
30001348 |
2018 |
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 |
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 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 |
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 |
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 |
rs112735431
|
|
|
0.100 |
GeneticVariation |
BEFREE |
These results suggest that, in our cohort of Korean patients, the p.Arg4810Lys is the only variant that is strongly associated with MMD among the 30 RNF213 variants listed in the HGMD.
|
28617845 |
2017 |
rs112735431
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Because most Japanese patients with moyamoya disease carry the p.R4810K variant of the ring finger 213 gene (RNF213), this may also be a risk factor for coronary artery disease; however, this possibility has never been tested.
|
28414759 |
2017 |
rs112735431
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The p.R4810K (rs11273543, c.14429G > A) variant of the RNF213 gene is associated with increased risk of Moyamoya disease (MMD), which is an idiopathic progressive intracranial vascular steno-occlusive disease, in Asian populations.
|
28931766 |
2017 |
rs112735431
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Significantly higher frequencies of the A allele and G/A genotype of p.R4810K</span> were observed in MMD patients compared with controls (χ<sup>2</sup> = 104.166, p < 0.000).
|
27128593 |
2017 |
rs112735431
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The Association of the RNF213 p.R4810K Polymorphism with Quasi-Moyamoya Disease and a Review of the Pertinent Literature.
|
28063898 |
2017 |
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 |
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 |
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 |
Our case-control study and meta-analysis both provide evidence of an association between the rs112735431(c.14576G>A) polymorphism in the RNF213 gene and MMD risk.
|
27515544 |
2016 |
rs112735431
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Many non-p.R</span>4810K</span> rare variants of RNF213 have been identified in white moyamoya disease patients, although the ethnic mutations have not been investigated in this population.
|
27736983 |
2016 |