Literature DB >> 30656493

Lack of Association of the rs11655081 ARSG Gene with Blepharospasm.

Vasileios Siokas1, Dimitrios Kardaras2, Athina-Maria Aloizou1, Ioannis Asproudis3, Konstadinos G Boboridis4, Eleni Papageorgiou2, Demetrios A Spandidos5, Aristidis Tsatsakis6, Evangelia E Tsironi2, Efthimios Dardiotis7.   

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.

Entities:  

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

Mesh：

Substances：

Year:  2019        PMID： 30656493     DOI： 10.1007/s12031-018-1255-3

Source DB:  PubMed          Journal:  J Mol Neurosci        ISSN： 0895-8696            Impact factor:   3.444


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