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.
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Supplementary Table 1
Allele and genotype frequencies of ARSG rs11655081 in BSP cases and in healthy controls. (DOCX 14 kb)
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Siokas, V., Kardaras, D., Aloizou, AM. et al. Lack of Association of the rs11655081 ARSG Gene with Blepharospasm. J Mol Neurosci 67, 472–476 (2019). https://doi.org/10.1007/s12031-018-1255-3
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DOI: https://doi.org/10.1007/s12031-018-1255-3