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 Dardiotis

doi:10.1007/s12031-018-1255-3

Lack of Association of the rs11655081 ARSG Gene with Blepharospasm

J Mol Neurosci. 2019 Mar;67(3):472-476. doi: 10.1007/s12031-018-1255-3. Epub 2019 Jan 18.

Affiliations

¹ Department of Neurology, Laboratory of Neurogenetics, University of Thessaly, University Hospital of Larissa, Biopolis, Mezourlo Hill, 41100, Larissa, Greece.
² Department of Ophthalmology, University Hospital of Larissa, University of Thessaly, Larissa, Greece.
³ Department of Ophthalmology, University of Ioannina, Ioannina, Greece.
⁴ 3rd University Department of Ophthalmology, Aristotle University of Thessaloniki, Thessaloniki, Greece.
⁵ Laboratory of Clinical Virology, Medical School, University of Crete, 71003, Heraklion, Crete, Greece.
⁶ Laboratory of Toxicology, School of Medicine, University of Crete, 71003, Heraklion, Greece.
⁷ Department of Neurology, Laboratory of Neurogenetics, University of Thessaly, University Hospital of Larissa, Biopolis, Mezourlo Hill, 41100, Larissa, Greece. [email protected].

PMID: 30656493
DOI: 10.1007/s12031-018-1255-3

Abstract

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.

Keywords: ARSG; Blepharospasm; Focal dystonia; Polymorphism; SNP.

MeSH terms

Arylsulfatases / genetics*
Blepharospasm / genetics*
Humans
Polymorphism, Single Nucleotide*

Substances

ARSG protein, human
Arylsulfatases