|
rs9275260
|
|
|
0.700 |
GeneticVariation |
GWASCAT |
A genome-wide association study suggests the HLA Class II region as the major susceptibility locus for IgA vasculitis.
|
28698626 |
2017 |
|
rs3743930
|
|
|
0.030 |
GeneticVariation |
BEFREE |
• p.E148Q variants have no impact on clinical symptoms and laboratory findings in Henoch-Schönlein purpura patients.
|
30826945 |
2019 |
|
rs61752717
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Key points • p.M694V mutation is more common in Henoch-Schönlein purpura than in the general population.
|
30826945 |
2019 |
|
rs3743930
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Subjects with rs3743930-GC or CC and rs28940580-GA or AA genotype have the highest HSP risk, compared to subjects with rs3743930-GG and rs28940580-GG genotype; OR (95% CI) was 2.13 (1.52-2.89).
|
27796522 |
2017 |
|
rs1267969615
|
|
|
0.030 |
GeneticVariation |
BEFREE |
I: 2.0528, 95% CI: 1.3632-3.0912, p=0.001) while no significant risk was obtained for HSP in the subjects both with the MT + TT genotype (p=0.312, OR: 1.3905, 95% T vs. M: 1.065, 95% CI: 0.7326-2.6391) and T allele (OR: patients were stratified by the presence of certain systemic complications of HSP, no significant association was detected with ACE I/D, and AGT M235T polymorphisms.
|
23151617 |
2013 |
|
rs61752717
|
|
|
0.030 |
GeneticVariation |
BEFREE |
MEFV mutations, especially, E148Q and M694V, mutations might be associated with HSP and may affect clinical presentation and laboratory findings in HSP patients.
|
23981758 |
2013 |
|
rs61752717
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Leucocyte counts, erythrocyte sedimentation rates, serum C-reactive protein (CRP) concentrations, number of patients with increased CRP levels and number of patients with increased immunoglobulin A concentrations were found to be higher in patients with MEFV mutations. p.M694V was the most frequent mutation and was found to have effects on clinical and laboratory findings in children with HSP.
|
21231959 |
2011 |
|
rs1267969615
|
|
|
0.030 |
GeneticVariation |
BEFREE |
We suggest that RAS gene polymorphisms (ACE-I/D, M235T or T174M) are significantly associated with susceptibility to HSP, organ involvement, and disease severity, which largely account for individual prognosis.
|
20702504 |
2010 |
|
rs3743930
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Our results suggest that MEFV E148Q could be a contributory genetic factor to HSP and HSP-related joint syndromes.
|
20602240 |
2010 |
|
rs121908515
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Collectively, our results suggest that S44L in association with c.1687G>A (E563K) drops the functional level of spastin below a threshold limit sufficient to manifest HSP.
|
18190593 |
2008 |
|
rs121908515
|
|
|
0.030 |
GeneticVariation |
BEFREE |
We confirm these associations for p.S44L but do not detect two other variants (p.E43Q; p.P45Q) in HSP patients and controls.
|
17916079 |
2007 |
|
rs1267969615
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Three RAS genotypes were examined in 114 children with HSP and in 164 healthy children: the angiotensin I converting enzyme (ACE) insertion/deletion polymorphism, the M235T mutation in the angiotensinogen gene (Agt), and the A1166C in the angiotensin II type I receptor (AT1R) gene.
|
16521052 |
2006 |
|
rs121908515
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Our identification of S44L and P45Q as modifiers of the HSP phenotype suggests a role for spastin phosphorylation by Cdks in the neurodegeneration of the most-common form of HSP.
|
15248095 |
2004 |
|
rs121908513
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We investigated the role of the I344K-SPAST in HSP to provide a therapeutic mechanism.
|
30006150 |
2018 |
|
rs1799983
|
|
|
0.020 |
GeneticVariation |
BEFREE |
There was a significant difference in allelic and genotypic distribution of rs1799983 between children with HSP and healthy controls (p = 0.002 and 0.0001, respectively).
|
28409662 |
2017 |
|
rs1799983
|
|
|
0.020 |
GeneticVariation |
BEFREE |
In conclusion, eNOS T786C TT genotype was associated with and eNOS G894T T allele and GG genotype were associated with HSP susceptibility.
|
25585947 |
2015 |
|
rs61755320
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We present additional data from the Auckland City Hospital neurogenetics clinic to show that the p.Ala510Val mutation is prevalent amongst HSP patients of UK extraction belying any suggestion that European p.Ala510Val haplotypes harbour a disease-causing mutation which the UK p.Ala510Val haplotypes do not.
|
23269439 |
2013 |
|
rs699
|
|
|
0.020 |
GeneticVariation |
BEFREE |
I: 2.0528, 95% CI: 1.3632-3.0912, p=0.001) while no significant risk was obtained for HSP in the subjects both with the MT + TT genotype (p=0.312, OR: 1.3905, 95% T vs. M: 1.065, 95% CI: 0.7326-2.6391) and T allele (OR: patients were stratified by the presence of certain systemic complications of HSP, no significant association was detected with ACE I/D, and AGT M235T polymorphisms.
|
23151617 |
2013 |
|
rs121908517
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We confirm these associations for p.S44L but do not detect two other variants (p.E43Q; p.P45Q) in HSP patients and controls.
|
17916079 |
2007 |
|
rs61755320
|
|
|
0.020 |
GeneticVariation |
BEFREE |
However, the p.Ala510Val missense substitution previously described as a polymorphism was shown to be significantly associated with HSP, suggesting that it had a functional effect.
|
16534102 |
2006 |
|
rs699
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Three RAS genotypes were examined in 114 children with HSP and in 164 healthy children: the angiotensin I converting enzyme (ACE) insertion/deletion polymorphism, the M235T mutation in the angiotensinogen gene (Agt), and the A1166C in the angiotensin II type I receptor (AT1R) gene.
|
16521052 |
2006 |
|
rs121908517
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Our identification of S44L and P45Q as modifiers of the HSP phenotype suggests a role for spastin phosphorylation by Cdks in the neurodegeneration of the most-common form of HSP.
|
15248095 |
2004 |
|
rs121908513
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Clinical presentations of affected individuals carrying the I344K mutation were not different from those of pure AD-HSP with SPG4 mutations reported previously.
|
12202986 |
2002 |
|
rs121908510
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, we report a new transgenic mouse (termed SPASTC448Y mouse) that is not haploinsufficient but expresses human spastin bearing the HSP pathogenic C448Y mutation.
|
30520996 |
2019 |
|
rs80338865
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The N471D and several other point mutations of human strumpellin (Str; also known as WASHC5), a member of the Wiskott-Aldrich syndrome protein and SCAR homologue (WASH) complex, have been shown to cause a form of HSP known as spastic paraplegia 8 (SPG8).
|
30061306 |
2018 |