|
rs373182378
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs751701114
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs781020381
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs112735431
|
|
|
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 |
|
rs6565681
|
|
A |
0.700 |
GeneticVariation |
GWASCAT |
A genome-wide association study identifies RNF213 as the first Moyamoya disease gene.
|
21048783 |
2011 |
|
rs199580307
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A novel heterozygous missense mutation 377T > C (V126A) of TGIF gene in a family segregated with holoprosencephaly and moyamoya disease.
|
16475235 |
2006 |
|
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 |
|
rs2107595
|
|
A |
0.710 |
GeneticVariation |
GWASCAT |
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 |
|
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 |
|
rs148731719
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Although another polymorphism rs148731719 showed no significant association with the MMD, rs138130613 was found to be related to the higher risk in Chinese population (dominant model: OR 8.34, 95 % CI 1.72-40.47, P = 0.008).
|
26847828 |
2016 |
|
rs1800471
|
|
|
0.010 |
GeneticVariation |
BEFREE |
As no new genetic variants were uncovered in this study of the first exon of TGFB1 in European MMD patients and because of the negative association of rs1800470 and rs1800471 in Japanese MMD patients, a role of this exon of TGFB1 in the genesis of MMD is unlikely.
|
22659181 |
2012 |
|
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 |
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 |
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 |
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 |
Frequency of RNF213 p.R4810K, a susceptibility variant for moyamoya disease, and health characteristics of carriers in the Japanese population.
|
27365075 |
2016 |
|
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 |
|
rs148731719
|
|
|
0.040 |
GeneticVariation |
BEFREE |
However, A4399T is also a susceptible variant for MMD, primarily associated with hemorrhage.
|
23110205 |
2012 |
|
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 |
|
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 |
|
rs3828610
|
|
|
0.010 |
GeneticVariation |
BEFREE |
MDR analysis failed to detect any significant interaction among these five loci in the occurrence of MMD (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 |
|
rs3025058
|
|
|
0.010 |
GeneticVariation |
BEFREE |
MDR analysis failed to detect any significant interaction among these five loci in the occurrence of MMD (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 |
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 |
|
rs10734650
|
|
A |
0.700 |
GeneticVariation |
GWASCAT |
Novel Susceptibility Loci for Moyamoya Disease Revealed by a Genome-Wide Association Study.
|
29273593 |
2018 |