|
Moyamoya Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
A case-control study demonstrated strong association of p.R4810K with moyamoya disease in East Asian populations (251 cases and 707 controls) with an odds ratio of 111.8 (P = 10(-119)).
|
21799892 |
2011 |
|
Moyamoya Disease
|
|
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 |
|
Moyamoya Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Two linkage disequilibrium blocks were constructed for moyamoya patients with p.R4810K (n = 140) and the general population (n = 384) using 39 single nucleotide polymorphisms (SNPs) spanning 390 kb around RNF213.
|
22878964 |
2013 |
|
Moyamoya Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
The ischemic type MMD is particularly related to the R4810K mutation.
|
23110205 |
2012 |
|
Moyamoya Disease
|
|
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 |
|
Moyamoya Disease
|
|
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 |
|
Moyamoya Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
RNF213 R4810K reduced angiogenic activities of iPSECs from patients with MMD, suggesting that it is a promising in vitro model for MMD.
|
23850618 |
2013 |
|
Moyamoya Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
The moyamoya disease susceptibility variant RNF213 R4810K (rs112735431) induces genomic instability by mitotic abnormality.
|
23994138 |
2013 |
|
Moyamoya Disease
|
|
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 |
|
Moyamoya Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Early onset of moyamoya syndrome in a Down syndrome patient with the genetic variant RNF213 p.R4810K.
|
25547042 |
2015 |
|
Moyamoya Disease
|
|
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 |
|
Moyamoya Disease
|
|
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 |
|
Moyamoya Disease
|
|
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 |
|
Moyamoya Disease
|
|
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 |
|
Moyamoya Disease
|
|
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 |
|
Moyamoya Disease
|
|
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 |
|
Moyamoya Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Frequency of RNF213 p.R4810K, a susceptibility variant for moyamoya disease, and health characteristics of carriers in the Japanese population.
|
27365075 |
2016 |
|
Moyamoya Disease
|
|
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 |
|
Moyamoya Disease
|
|
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 |
|
Moyamoya Disease
|
|
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 |
|
Moyamoya Disease
|
|
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 |
|
Moyamoya Disease
|
|
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 |
|
Moyamoya Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Significant association of RNF213 p.R4810K, a moyamoya susceptibility variant, with coronary artery disease.
|
28414759 |
2017 |
|
Moyamoya Disease
|
|
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 |
|
Moyamoya Disease
|
|
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 |