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Lack of Association of the rs11655081 ARSG Gene with Blepharospasm

dc.creatorSiokas V., Kardaras D., Aloizou A.-M., Asproudis I., Boboridis K.G., Papageorgiou E., Spandidos D.A., Tsatsakis A., Tsironi E.E., Dardiotis E.en
dc.date.accessioned2023-01-31T09:56:55Z
dc.date.available2023-01-31T09:56:55Z
dc.date.issued2019
dc.identifier10.1007/s12031-018-1255-3
dc.identifier.issn08958696
dc.identifier.urihttp://hdl.handle.net/11615/79037
dc.description.abstractBlepharospasm (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. © 2019, Springer Science+Business Media, LLC, part of Springer Nature.en
dc.language.isoenen
dc.sourceJournal of Molecular Neuroscienceen
dc.source.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-85060218557&doi=10.1007%2fs12031-018-1255-3&partnerID=40&md5=6a2310e35eff488d9ed2e6850a6e6279
dc.subjectarylsulfataseen
dc.subjectarylsulfatase gen
dc.subjectunclassified drugen
dc.subjectarylsulfataseen
dc.subjectarylsulfatase G, humanen
dc.subjectadulten
dc.subjectageden
dc.subjectArticleen
dc.subjectblepharospasmen
dc.subjectblood samplingen
dc.subjectcohort analysisen
dc.subjectcontrolled studyen
dc.subjectfemaleen
dc.subjectgene frequencyen
dc.subjectgenetic associationen
dc.subjectgenetic risken
dc.subjectgenetic variabilityen
dc.subjectgenotypeen
dc.subjectGreeceen
dc.subjecthumanen
dc.subjectinheritanceen
dc.subjectmajor clinical studyen
dc.subjectmaleen
dc.subjectmiddle ageden
dc.subjectrisk assessmenten
dc.subjectsingle nucleotide polymorphismen
dc.subjectblepharospasmen
dc.subjectgeneticsen
dc.subjectArylsulfatasesen
dc.subjectBlepharospasmen
dc.subjectHumansen
dc.subjectPolymorphism, Single Nucleotideen
dc.subjectSpringer New York LLCen
dc.titleLack of Association of the rs11655081 ARSG Gene with Blepharospasmen
dc.typejournalArticleen


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