The Role of TOR1A Polymorphisms in Dystonia: A Systematic Review and Meta-Analysis.
<h4>Importance</h4>A 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 systematica...
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Public Library of Science (PLoS)
2017-01-01
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| Series: | PLoS ONE |
| Online Access: | https://doi.org/10.1371/journal.pone.0169934 |
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| author | Vasileios Siokas Efthimios Dardiotis Evangelia E Tsironi Georgios Tsivgoulis Dimitrios Rikos Maria Sokratous Stylianos Koutsias Konstantinos Paterakis Georgia Deretzi Georgios M Hadjigeorgiou |
| author_facet | Vasileios Siokas Efthimios Dardiotis Evangelia E Tsironi Georgios Tsivgoulis Dimitrios Rikos Maria Sokratous Stylianos Koutsias Konstantinos Paterakis Georgia Deretzi Georgios M Hadjigeorgiou |
| author_sort | Vasileios Siokas |
| collection | DOAJ |
| description | <h4>Importance</h4>A 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.<h4>Methods</h4>We 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.<h4>Results</h4>Rs1182 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)].<h4>Conclusions</h4>Our 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. |
| format | Article |
| id | doaj-art-842e7035e53143a18c1356718e6ca04f |
| institution | OA Journals |
| issn | 1932-6203 |
| language | English |
| publishDate | 2017-01-01 |
| publisher | Public Library of Science (PLoS) |
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| spelling | doaj-art-842e7035e53143a18c1356718e6ca04f2025-08-20T02:20:41ZengPublic Library of Science (PLoS)PLoS ONE1932-62032017-01-01121e016993410.1371/journal.pone.0169934The Role of TOR1A Polymorphisms in Dystonia: A Systematic Review and Meta-Analysis.Vasileios SiokasEfthimios DardiotisEvangelia E TsironiGeorgios TsivgoulisDimitrios RikosMaria SokratousStylianos KoutsiasKonstantinos PaterakisGeorgia DeretziGeorgios M Hadjigeorgiou<h4>Importance</h4>A 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.<h4>Methods</h4>We 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.<h4>Results</h4>Rs1182 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)].<h4>Conclusions</h4>Our 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.https://doi.org/10.1371/journal.pone.0169934 |
| spellingShingle | Vasileios Siokas Efthimios Dardiotis Evangelia E Tsironi Georgios Tsivgoulis Dimitrios Rikos Maria Sokratous Stylianos Koutsias Konstantinos Paterakis Georgia Deretzi Georgios M Hadjigeorgiou The Role of TOR1A Polymorphisms in Dystonia: A Systematic Review and Meta-Analysis. PLoS ONE |
| title | The Role of TOR1A Polymorphisms in Dystonia: A Systematic Review and Meta-Analysis. |
| title_full | The Role of TOR1A Polymorphisms in Dystonia: A Systematic Review and Meta-Analysis. |
| title_fullStr | The Role of TOR1A Polymorphisms in Dystonia: A Systematic Review and Meta-Analysis. |
| title_full_unstemmed | The Role of TOR1A Polymorphisms in Dystonia: A Systematic Review and Meta-Analysis. |
| title_short | The Role of TOR1A Polymorphisms in Dystonia: A Systematic Review and Meta-Analysis. |
| title_sort | role of tor1a polymorphisms in dystonia a systematic review and meta analysis |
| url | https://doi.org/10.1371/journal.pone.0169934 |
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