SynthesisPloS one2017
The Role of TOR1A Polymorphisms in Dystonia: A Systematic Review and Meta-Analysis.
Synthesis in PloS one, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 2 of them syntheses that pooled it.
What it found
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Who cites it
16 citing papers in PubMed, 2 syntheses or guidelines pooled it, 34 citations in OpenAlex.
- BDNF rs6265 (Val66Met) Polymorphism as a Risk Factor for Blepharospasm.Neuromolecular medicine · 2019Pooled it
- Meta-analyses of IL1A polymorphisms and the risk of several autoimmune diseases published in databases.PloS one · 2018Pooled it
- Clinical implications of genetic polymorphisms in blepharospasm.Experimental and therapeutic medicine · 2024Article
- Genetic Update and Treatment for Dystonia.International journal of molecular sciences · 2024Review
- Dystonia in Childhood: How Insights from Paediatric Research Enrich the Network Theory of Dystonia.Advances in neurobiology · 2023Article
- Isolated dystonia: clinical and genetic updates.Journal of neural transmission (Vienna, Austria : 1996) · 2021Review
- Article
- Association of TOR1A and GCH1 Polymorphisms with Isolated Dystonia in India.Journal of molecular neuroscience : MN · 2021Article
- Article
- Association Between Dystonia-Related Genetic Loci and Parkinson's Disease in Eastern China.Frontiers in neurology · 2021Article
- Sensorimotor Integration in Childhood Dystonia and Dystonic Cerebral Palsy-A Developmental Perspective.Frontiers in neurology · 2021Review
- CYP1A2 rs762551 and ADORA2A rs5760423 Polymorphisms in Patients with Blepharospasm.Journal of molecular neuroscience : MN · 2020Article
- Genetic Risk Factors for Essential Tremor: A Review.Tremor and other hyperkinetic movements (New York, N.Y.) · 2020Review
- Does the CD33 rs3865444 Polymorphism Confer Susceptibility to Alzheimer's Disease?Journal of molecular neuroscience : MN · 2020Article
- Lack of Association of the rs11655081 ARSG Gene with Blepharospasm.Journal of molecular neuroscience : MN · 2019Article
- Risk Factor Genes in Patients with Dystonia: A Comprehensive Review.Tremor and other hyperkinetic movements (New York, N.Y.) · 2018Review
Corrections and comments
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Authors and funding
10 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
importanceA number of genetic loci were found to be associated with dystonia. Quite a few studies have been contacted to examine possible contribution of TOR1A variants to the risk of dystonia, but their results remain conflicting. The aim of the present study was to systematically evaluate the effect of TOR1A gene SNPs on dystonia and its phenotypic subtypes regarding the body distribution.
methodsWe performed a systematic review of Pubmed database to identify all available studies that reported genotype frequencies of TOR1A SNPs in dystonia. In total 16 studies were included in the quantitative analysis. Odds ratios (ORs) were calculated in each study to estimate the influence of TOR1A SNPs genotypes on the risk of dystonia. The fixed-effects model and the random effects model, in case of high heterogeneity, for recessive and dominant mode of inheritance as well as the free generalized odds ratio (ORG) model were used to calculate both the pooled point estimate in each study and the overall estimates.
resultsRs1182 was found to be associated with focal dystonia in recessive mode of inheritance [Odds Ratio, OR (95% confidence interval, C.I.): 1.83 (1.14-2.93), Pz = 0.01]. In addition, rs1801968 was associated with writer's cramp in both recessive and dominant modes [OR (95%C.I.): 5.99 (2.08-17.21), Pz = 0.00009] and [2.48 (1.36-4.51), Pz = 0.003) respectively and in model free-approach [ORG (95%C.I.): 2.58 (1.45-4.58)].
conclusionsOur meta-analysis revealed a significant implication of rs1182 and rs1801968 TOR1A variants in the development of focal dystonia and writer's cramp respectively. TOR1A gene variants seem to be implicated in dystonia phenotype.
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