rs137854466
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs727503054
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs140598
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The pathogenicity of the Pro1148Ala substitution in the FBN1 gene: causing or predisposing to Marfan syndrome and aortic aneurysm, or clinically innocent?
|
9150726 |
1997 |
rs191645600
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Of these, 2 novel missense mutations, A1343V and P1390T, were observed only in patients with bicuspid aortic valves and tricuspid aortic aneurysms.
|
17662764 |
2007 |
rs10757278
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Significantly reduced expression of all INK4/ARF transcripts (p15(INK4b), p16(INK4a), ARF and ANRIL) was found in PBTL of individuals harboring a common SNP (rs10757278) associated with increased risk of coronary artery disease, stroke and aortic aneurysm.
|
19343170 |
2009 |
rs2043211
|
|
|
0.010 |
GeneticVariation |
BEFREE |
AAA patients (n=1151) and controls (n=727) were genotyped for CARD8 SNP rs2043211 and NLRP3 SNP rs35829419 using TaqMan SNP assays.
|
21621776 |
2011 |
rs10519177
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We did not find significant differences in aortic size, a potential confounder for TAD, between rs2118181 risk variant carriers and non-carriers: mean aortic size was 5.56 (95% CI: 5.37-5.73) for risk variant carriers (CC+CT) and was 5.48 (95% CI: 5.36-5.61) for noncarriers (TT) (p = 0.56). rs2118181 was not associated with TAA or TAAD. rs10519177 was not associated with TAD, TAA, or TAAD in the Yale study.
|
24743685 |
2014 |
rs2118181
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We did not find significant differences in aortic size, a potential confounder for TAD, between rs2118181 risk variant carriers and non-carriers: mean aortic size was 5.56 (95% CI: 5.37-5.73) for risk variant carriers (CC+CT) and was 5.48 (95% CI: 5.36-5.61) for noncarriers (TT) (p = 0.56). rs2118181 was not associated with TAA or TAAD. rs10519177 was not associated with TAD, TAA, or TAAD in the Yale study.
|
24743685 |
2014 |
rs900
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The most relevant finding obtained allows us to propose that rs900 TGF-β2 SNP is associated with sporadic TAA in women.
|
24707114 |
2014 |
rs10519177
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Our study provides evidence for the following: (i) FBN1 SNPs rs2118181, rs1036477, rs10519177, rs4774517, rs755251 may increase susceptibility to aortic dissections and (ii) FBN1 SNPs rs2118181, rs1036477 to the formation of aortic aneurysms.
|
25583878 |
2015 |
rs2118181
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Our study provides evidence for the following: (i) FBN1 SNPs rs2118181, rs1036477, rs10519177, rs4774517, rs755251 may increase susceptibility to aortic dissections and (ii) FBN1 SNPs rs2118181, rs1036477 to the formation of aortic aneurysms.
|
25583878 |
2015 |
rs1036477
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our study provides evidence for the following: (i) FBN1 SNPs rs2118181, rs1036477, rs10519177, rs4774517, rs755251 may increase susceptibility to aortic dissections and (ii) FBN1 SNPs rs2118181, rs1036477 to the formation of aortic aneurysms.
|
25583878 |
2015 |
rs4774517
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our study provides evidence for the following: (i) FBN1 SNPs rs2118181, rs1036477, rs10519177, rs4774517, rs755251 may increase susceptibility to aortic dissections and (ii) FBN1 SNPs rs2118181, rs1036477 to the formation of aortic aneurysms.
|
25583878 |
2015 |
rs755251
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our study provides evidence for the following: (i) FBN1 SNPs rs2118181, rs1036477, rs10519177, rs4774517, rs755251 may increase susceptibility to aortic dissections and (ii) FBN1 SNPs rs2118181, rs1036477 to the formation of aortic aneurysms.
|
25583878 |
2015 |
rs5516
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The KLK1 rs5516 G allele is closely associated with AA, and the ACE D allele is closely related to AA and AS.
|
27858843 |
2016 |
rs113358395
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A rare missense variant in ADCK4 (p.Arg63Trp) segregated with mild TAA in each family.
|
28550590 |
2017 |
rs1343555503
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this study, we functionally characterized the Smad4 S271N mutation (the mutation c. 812G>A in Smad4 results in the amino acid substitution Ser271Asn) that was isolated from TAA individuals.
|
28716708 |
2017 |
rs1465567
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Examination of the correlation of these latter 8 SNPs to true or dissecting aortic aneurysm separately showed that rs1465567 [T/C (W229R)] of the EGF-like, fibronectin type III, and laminin G domains gene (EGFLAM) (dominant model; P=0.0014; odds ratio, 1.63) was significantly (P<0.0016) associated with true aortic aneurysm.
|
28339009 |
2017 |
rs12191786
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our aim was to determine the association of Arg753Gln (rs5743708) and Arg677Trp (rs12191786) polymorphisms of toll like receptor-2 gene with the two clinical forms of apical periodontitis: acute apical abscess (AAA) and asymptomatic apical periodontitis (AAP).
|
29854884 |
2018 |
rs121917864
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The frequency of mutant allele (T)</span> of Arg677Trp polymorphism was higher in AAA</span> (14%) than AAP (7%) subjects (OR=1.7, 95% CI: 0.6-4.7).
|
29854884 |
2018 |
rs5743708
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Variant allele (A) of Arg7</span>53Gln polymorphism was identified in 2% of AAA, while no individual represented with this allele in AAP subjects.
|
29854884 |
2018 |