rs11655081 ARSG 基因与眼睑痉挛无关。
Lack of Association of the rs11655081 ARSG Gene with Blepharospasm.
机构信息
Department of Neurology, Laboratory of Neurogenetics, University of Thessaly, University Hospital of Larissa, Biopolis, Mezourlo Hill, 41100, Larissa, Greece.
Department of Ophthalmology, University Hospital of Larissa, University of Thessaly, Larissa, Greece.
出版信息
J Mol Neurosci. 2019 Mar;67(3):472-476. doi: 10.1007/s12031-018-1255-3. Epub 2019 Jan 18.
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.
眼睑痉挛（BSP）是局灶性肌张力障碍的一个亚型。一些遗传风险因素被认为与 BSP 的发病风险有关。最近的证据基于 GWAS 和荟萃分析的结果表明，芳基硫酸酯酶 G（ARSG），特别是 rs11655081，与局灶性肌张力障碍有关。本研究旨在评估 rs11655081 ARSG 对 BSP 的影响。对由 206 名 BSP 患者和相同数量的健康对照组成的希腊队列进行了 rs11655081 基因分型。仅在过度显性遗传模型中发现 rs11655081 与 BSP 风险之间存在关联的边缘趋势[比值比，OR（95%置信区间，CI）：0.64（0.38-1.07），p=0.088]。在 ARSG 中，rs11655081 不太可能是 BSP 的主要遗传风险因素。
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