rs117353193
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Two novel SNPs in genes regulating homocysteine metabolism, rs9651118 in <i>MTHFR</i> (<i>P</i><sub>combined</sub>=2.49×10<sup>-19</sup>; odds ratio, 0.65) and rs117353193 in <i>TCN2</i> (<i>P</i><sub>combined</sub>=6.15×10<sup>-13</sup>; odds ratio, 1.43), were associated with high-serum homocysteine in MMD cases.
|
29273593 |
2018 |
rs2107595
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Additionally, another SNP associated with MMD (rs2107595 in <i>HDAC9</i>; <i>P</i><sub>combined</sub>=1.49×10<sup>-29</sup>; odds ratio, 1.64) was previously implicated in large-vessel disease.
|
29273593 |
2018 |
rs9651118
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Two novel SNPs in genes regulating homocysteine metabolism, rs9651118 in <i>MTHFR</i> (<i>P</i><sub>combined</sub>=2.49×10<sup>-19</sup>; odds ratio, 0.65) and rs117353193 in <i>TCN2</i> (<i>P</i><sub>combined</sub>=6.15×10<sup>-13</sup>; odds ratio, 1.43), were associated with high-serum homocysteine in MMD cases.
|
29273593 |
2018 |
rs9916351
|
|
|
0.710 |
GeneticVariation |
BEFREE |
One SNP, rs9916351 in <i>RNF213</i> (<i>P</i><sub>combined</sub>=4.57×10<sup>-54</sup>; odds ratio, 1.96), showed a stronger genetic effect on early-onset than late-onset MMD (<i>P</i>=0.003).
|
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 |