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The Role of TOR1A Polymorphisms in Dystonia: A Systematic Review and Meta-Analysis

V. Siokas, E. Dardiotis, EE. Tsironi, G. Tsivgoulis, D. Rikos, M. Sokratous, S. Koutsias, K. Paterakis, G. Deretzi, GM. Hadjigeorgiou,

. 2017 ; 12 (1) : e0169934. [pub] 20170112

Language English Country United States

Document type Journal Article, Meta-Analysis, Review

Persistent link   https://www.medvik.cz/link/bmc17031135

IMPORTANCE: 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. METHODS: 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. RESULTS: 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)]. CONCLUSIONS: 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.

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$a IMPORTANCE: A number of genetic loci were found to be associated with dystonia. Quite a few studies have been contacted to examine possible contribution of TOR1A variants to the risk of dystonia, but their results remain conflicting. The aim of the present study was to systematically evaluate the effect of TOR1A gene SNPs on dystonia and its phenotypic subtypes regarding the body distribution. METHODS: We performed a systematic review of Pubmed database to identify all available studies that reported genotype frequencies of TOR1A SNPs in dystonia. In total 16 studies were included in the quantitative analysis. Odds ratios (ORs) were calculated in each study to estimate the influence of TOR1A SNPs genotypes on the risk of dystonia. The fixed-effects model and the random effects model, in case of high heterogeneity, for recessive and dominant mode of inheritance as well as the free generalized odds ratio (ORG) model were used to calculate both the pooled point estimate in each study and the overall estimates. RESULTS: Rs1182 was found to be associated with focal dystonia in recessive mode of inheritance [Odds Ratio, OR (95% confidence interval, C.I.): 1.83 (1.14-2.93), Pz = 0.01]. In addition, rs1801968 was associated with writer's cramp in both recessive and dominant modes [OR (95%C.I.): 5.99 (2.08-17.21), Pz = 0.00009] and [2.48 (1.36-4.51), Pz = 0.003) respectively and in model free-approach [ORG (95%C.I.): 2.58 (1.45-4.58)]. CONCLUSIONS: Our meta-analysis revealed a significant implication of rs1182 and rs1801968 TOR1A variants in the development of focal dystonia and writer's cramp respectively. TOR1A gene variants seem to be implicated in dystonia phenotype.
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$a Dardiotis, Efthimios $u Department of Neurology, Laboratory of Neurogenetics, University of Thessaly, University Hospital of Larissa, Larissa, Greece.
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$a Tsironi, Evangelia E $u Department of Ophthalmology, Faculty of Medicine, School of Health Sciences, University of Thessaly, Larissa, Greece.
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$a Tsivgoulis, Georgios $u Second Department of Neurology, University of Athens, School of Medicine, "Attikon" University Hospital, Athens, Greece. International Clinical Research Center, St. Anne's University Hospital in Brno, Brno, Czech Republic.
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$a Rikos, Dimitrios $u Department of Neurology, Laboratory of Neurogenetics, University of Thessaly, University Hospital of Larissa, Larissa, Greece.
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$a Sokratous, Maria $u Department of Neurology, Laboratory of Neurogenetics, University of Thessaly, University Hospital of Larissa, Larissa, Greece.
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$a Koutsias, Stylianos $u Department of Vascular Surgery, University Hospital of Larissa, University of Thessalia Medical School, Larissa, Greece.
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$a Paterakis, Konstantinos $u Department of Neurosurgery, University of Thessaly, University Hospital of Larissa, Larissa, Greece.
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$a Deretzi, Georgia $u Department of Neurology, Papageorgiou General Hospital, Thessaloniki, Greece.
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