rs80358233
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
The role of DYT1 in primary torsion dystonia in Europe.
|
9874484 |
1998 |
rs80358233
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein.
|
9288096 |
1997 |
rs727502811
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Two missense variations have been described in single patients: R288Q (c.863G>A; p.Arg288Gln; R288Q) identified in a patient with onset of severe generalized dystonia and myoclonus since infancy and F205I (c.613T>A, p.Phe205Ile; F205I) in a psychiatric patient with late-onset focal dystonia.
|
24930953 |
2014 |
rs727502811
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Recently, another Exon 5 mutation (c.863G>A) has been associated with early-onset generalized dystonia and some DeltaGAG mutation carriers present with late-onset focal dystonia.
|
19284587 |
2009 |
rs727502811
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Novel TOR1A mutation p.Arg288Gln in early-onset dystonia (DYT1).
|
18477710 |
2008 |
rs1801968
|
|
|
0.020 |
GeneticVariation |
BEFREE |
In addition, we found no association of rs1801968 with dystonia.
|
26940431 |
2017 |
rs3842225
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The rs35153737 variant showed a statistically significant association with dystonia using the allele model (P=0.035) and the dominant genetic model (P=0.018); however, no association between rs3842225 and dystonia was found.
|
28756192 |
2017 |
rs1182
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Stratification of patients based on age at the disease onset (≤ 30 years and > 30 years) showed statistically significant prevalence of the del-allele at the rs3842225 locus in Slavic patients with earlier age of onset of dystonia (36.96% vs. 21.39% in patients with late age of onset, p = 0.002) and an overrepresentation of the T-allele at the rs1182 locus (36.96% vs. 21.69%, p = 0.003).
|
25203860 |
2015 |
rs3842225
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Stratification of patients based on age at the disease onset (≤ 30 years and > 30 years) showed statistically significant prevalence of the del-allele at the rs3842225 locus in Slavic patients with earlier age of onset of dystonia (36.96% vs. 21.39% in patients with late age of onset, p = 0.002) and an overrepresentation of the T-allele at the rs1182 locus (36.96% vs. 21.69%, p = 0.003).
|
25203860 |
2015 |
rs1801968
|
|
|
0.020 |
GeneticVariation |
BEFREE |
However, in a selection of familial cases the functional variant p.Asp216His (rs1801968) was associated with increased dystonia risk (odds ratio 1.43; 95%CI 1.01-2.02).
|
23460578 |
2013 |
rs1182
|
|
|
0.020 |
GeneticVariation |
BEFREE |
In both series, patients carrying the T allele (G/T or T/T) in the rs1182 polymorphism were more likely to have dystonia spread as compared with the homozygous carriers of the common G allele.
|
19202559 |
2009 |
rs35153737
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our study suggests that there is an association between rs35153737 and dystonia in a southwestern Chinese population, and it may be caused by high linkage disequilibrium between this deletion and potential pathogenic variants in TOR1A.
|
28756192 |
2017 |
rs142909469
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In the case cohort, we identified a rare 5'-UTR variant (c.-39G > T), a rare splice-region variant (c.445-8T > C), as well as one novel (p.Ile231Asn) and two rare (p.Ala163Val, p.Thr321Met) missense variants, each in a single patient with adult-onset focal/segmental isolated dystonia.
|
27477622 |
2016 |
rs1476648522
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In the case cohort, we identified a rare 5'-UTR variant (c.-39G > T), a rare splice-region variant (c.445-8T > C), as well as one novel (p.Ile231Asn) and two rare (p.Ala163Val, p.Thr321Met) missense variants, each in a single patient with adult-onset focal/segmental isolated dystonia.
|
27477622 |
2016 |