|
rs1535045
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Polymorphisms rs4813003 major allele CC and rs1535045 minor allele TT were significantly higher in MMD cases.
|
30681383 |
2019 |
|
rs4813003
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Polymorphisms rs4813003 major allele CC and rs1535045 minor allele TT were significantly higher in MMD cases.
|
30681383 |
2019 |
|
rs11273543
|
|
|
0.010 |
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 |
|
rs1217691063
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The MTHFR 677C>T and 1298A>C polymorphisms have restricted roles in the Korean MMD population.
|
25098357 |
2014 |
|
rs17576
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The MMP-9 Q279R GA + AA genotype showed a protective effect for MMD.
|
25280484 |
2014 |
|
rs397507444
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The MTHFR 677C>T and 1298A>C polymorphisms have restricted roles in the Korean MMD population.
|
25098357 |
2014 |
|
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 |
|
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 |
|
rs11614913
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Thus, the SNP rs11614913 is significantly associated with moyamoya disease, as well as cerebral infarction and adult age in patients with moyamoya disease.
|
22659075 |
2012 |
|
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 |
|
rs2910164
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We compared the patient and the control genotypes and allele frequencies of rs2910164, rs11614913, and rs3746444 and investigated the association of the three SNPs with age and clinical characteristics, such as cerebral hemorrhage or infarction. rs11614913 in miR-196a2C>T was significantly associated with moyamoya disease.
|
22659075 |
2012 |
|
rs3746444
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We compared the patient and the control genotypes and allele frequencies of rs2910164, rs11614913, and rs3746444 and investigated the association of the three SNPs with age and clinical characteristics, such as cerebral hemorrhage or infarction. rs11614913 in miR-196a2C>T was significantly associated with moyamoya disease.
|
22659075 |
2012 |
|
rs766734961
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The mutation R256H is of particular interest because it also causes patent ductus arteriosus and moyamoya disease.
|
22753406 |
2012 |
|
rs387906592
|
|
|
0.010 |
GeneticVariation |
BEFREE |
One new mutation (R179H, heterozygous) in exon 6 of ACTA2 was found in one patient with MMD.
|
20970362 |
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 |
|
rs148731719
|
|
|
0.040 |
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 |
|
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 |
|
rs148731719
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The results indicated that RNF213 rs112735431 and rs148731719 may exert a significant influence on MMD occurrence.
|
23769926 |
2013 |
|
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 |
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 |