Journal of Molecular Neuroscience

, Volume 67, Issue 3, pp 472–476 | Cite as

Lack of Association of the rs11655081 ARSG Gene with Blepharospasm

  • Vasileios Siokas
  • Dimitrios Kardaras
  • Athina-Maria Aloizou
  • Ioannis Asproudis
  • Konstadinos G. Boboridis
  • Eleni Papageorgiou
  • Demetrios A. Spandidos
  • Aristidis Tsatsakis
  • Evangelia E. Tsironi
  • Efthimios DardiotisEmail author


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.


ARSG Blepharospasm Focal dystonia Polymorphism SNP 


Compliance with Ethical Standards

The local ethics committee approved study’s protocol. All participants provided informed consent

Informed Consent

Informed consent was obtained from all individual participants included in the study.

Conflict of Interest

The authors declare that they have no conflict of interest.

Supplementary material

12031_2018_1255_MOESM1_ESM.docx (15 kb)
Supplementary Table 1 Allele and genotype frequencies of ARSG rs11655081 in BSP cases and in healthy controls. (DOCX 14 kb)


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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2019

Authors and Affiliations

  • Vasileios Siokas
    • 1
  • Dimitrios Kardaras
    • 2
  • Athina-Maria Aloizou
    • 1
  • Ioannis Asproudis
    • 3
  • Konstadinos G. Boboridis
    • 4
  • Eleni Papageorgiou
    • 2
  • Demetrios A. Spandidos
    • 5
  • Aristidis Tsatsakis
    • 6
  • Evangelia E. Tsironi
    • 2
  • Efthimios Dardiotis
    • 1
    Email author
  1. 1.Department of Neurology, Laboratory of NeurogeneticsUniversity of Thessaly, University Hospital of LarissaLarissaGreece
  2. 2.Department of OphthalmologyUniversity Hospital of Larissa, University of ThessalyLarissaGreece
  3. 3.Department of OphthalmologyUniversity of IoanninaIoanninaGreece
  4. 4.3rd University Department of OphthalmologyAristotle University of ThessalonikiThessalonikiGreece
  5. 5.Laboratory of Clinical Virology, Medical SchoolUniversity of CreteHeraklionGreece
  6. 6.Laboratory of Toxicology, School of MedicineUniversity of CreteHeraklionGreece

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