Is TOR1A a risk factor in adult-onset primary torsion dystonia?
Mov Disord
; 28(6): 827-31, 2013 Jun.
Article
in En
| MEDLINE
| ID: mdl-23460578
ABSTRACT
BACKGROUND:
Studies of genetic association between TOR1A and adult-onset primary torsion dystonia have contradictory results.METHODS:
The authors genotyped TOR1A single nucleotide polymorphisms rs1801968, rs2296793, rs1182 and rs3842225 in a cohort of clinically well characterized cervical dystonia patients (n=367) and constructed haplotypes. The authors systematically reviewed the published case-control TOR1A association studies in adult-onset primary torsion dystonia.RESULTS:
In this Dutch cervical dystonia cohort, no significant association was found with TOR1A variants. In the meta-analysis (eight studies, 1332 adult-onset primary dystonia patients) no variant reached overall significance. 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).CONCLUSIONS:
Meta-analysis does not show association with common variants in TOR1A in adult-onset primary dystonia, except for the functional variant rs1801968 in familial focal dystonia cases.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Molecular Chaperones
/
Genetic Predisposition to Disease
/
Polymorphism, Single Nucleotide
/
Dystonia Musculorum Deformans
Type of study:
Etiology_studies
/
Incidence_studies
/
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
/
Systematic_reviews
Limits:
Adult
/
Aged
/
Female
/
Humans
/
Male
/
Middle aged
Language:
En
Journal:
Mov Disord
Journal subject:
NEUROLOGIA
Year:
2013
Document type:
Article
Affiliation country:
Netherlands
Publication country:
EEUU
/
ESTADOS UNIDOS
/
ESTADOS UNIDOS DA AMERICA
/
EUA
/
UNITED STATES
/
UNITED STATES OF AMERICA
/
US
/
USA