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Lack of Association of the rs11655081 ARSG Gene with Blepharospasm.
Siokas, Vasileios; Kardaras, Dimitrios; Aloizou, Athina-Maria; Asproudis, Ioannis; Boboridis, Konstadinos G; Papageorgiou, Eleni; Spandidos, Demetrios A; Tsatsakis, Aristidis; Tsironi, Evangelia E; Dardiotis, Efthimios.
  • Siokas V; Department of Neurology, Laboratory of Neurogenetics, University of Thessaly, University Hospital of Larissa, Biopolis, Mezourlo Hill, 41100, Larissa, Greece.
  • Kardaras D; Department of Ophthalmology, University Hospital of Larissa, University of Thessaly, Larissa, Greece.
  • Aloizou AM; Department of Neurology, Laboratory of Neurogenetics, University of Thessaly, University Hospital of Larissa, Biopolis, Mezourlo Hill, 41100, Larissa, Greece.
  • Asproudis I; Department of Ophthalmology, University of Ioannina, Ioannina, Greece.
  • Boboridis KG; 3rd University Department of Ophthalmology, Aristotle University of Thessaloniki, Thessaloniki, Greece.
  • Papageorgiou E; Department of Ophthalmology, University Hospital of Larissa, University of Thessaly, Larissa, Greece.
  • Spandidos DA; Laboratory of Clinical Virology, Medical School, University of Crete, 71003, Heraklion, Crete, Greece.
  • Tsatsakis A; Laboratory of Toxicology, School of Medicine, University of Crete, 71003, Heraklion, Greece.
  • Tsironi EE; Department of Ophthalmology, University Hospital of Larissa, University of Thessaly, Larissa, Greece.
  • Dardiotis E; Department of Neurology, Laboratory of Neurogenetics, University of Thessaly, University Hospital of Larissa, Biopolis, Mezourlo Hill, 41100, Larissa, Greece. edar@med.uth.gr.
J Mol Neurosci ; 67(3): 472-476, 2019 Mar.
Article en En | MEDLINE | ID: mdl-30656493
Blepharospasm (BSP) is a sub-phenotype of focal dystonia. A few genetic risk factors are considered to be implicated in the risk of developing BSP. There is recent evidence, based on results from GWAS and meta-analyses, to suggest that arylsulfatase G (ARSG), and more specifically rs11655081, is implicated in focal dystonia. The aim of the present study was to evaluate the effect of rs11655081 ARSG on BSP. A Greek cohort, which consisted of 206 BSP patients and an equal number of healthy controls, was genotyped for rs11655081. Only a marginal trend for the association between rs11655081 and the risk of BSP was found in the over-dominant model of inheritance [odds ratio, OR (95% confidence interval, CI): 0.64 (0.38-1.07), p = 0.088]. It is rather unlikely that rs11655081 across ARSG is a major genetic risk contributor for BSP.
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Arilsulfatasas / Blefaroespasmo / Polimorfismo de Nucleótido Simple Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Año: 2019 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Arilsulfatasas / Blefaroespasmo / Polimorfismo de Nucleótido Simple Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Año: 2019 Tipo del documento: Article