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Abstract：
The possible genetic variants associated with blepharospasm (BSP) and facial dystonia have been investigated. Although genetic variants associated with BSP have been extensively studied, the contribution of single-nucleotide polymorphisms towards this condition remains poorly understood. In addition, the etiology of BSP remains to be fully elucidated. Therefore, the present study aimed to assess the role of polymorphisms in the torsin 1A (TOR1A), dopamine receptor D (DRD)2 and DRD5 genes in South Korean patients with BSP. Furthermore, the role of genetic variants of these three aforementioned genes was investigated. A prospective case-control study was established, where 56 patients with BSP and 115 healthy controls were recruited at the Department of Ophthalmology of CHA Bundang Medical Center (Seongnam, South Korea) using single nucleotide polymorphisms analysis by real-time PCR. The TOR1A rs1182CC/DRD5 rs6283TC genotype combination was found to be associated with decreased BSP risk [adjusted odds ratio (AOR), 0.288; P=0.013]. DRD5 rs6283 was observed to be associated with the periocular type of BSP in the co-dominant (for the TC genotype; AOR, 0.370; P=0.029) and dominant models (AOR, 0.406; P=0.029). The recessive model of TOR1A rs1801968 (AOR, 0.245; P=0.030), and the recessive (AOR, 0.245; P=0.029) and over-dominant models (AOR, 2.437; P=0.019) of DRD2 rs1800497 were found to be associated with superior responses to botulinum neurotoxin A (BoNT) treatment. By contrast, dominant (AOR, 0.205; P=0.034) and additive (AOR, 0.227; P=0.030) models of DRD5 rs6283 were associated with poor responses to BoNT treatment. To conclude, these results suggested that DRD2 rs1800497 can confer genetic susceptibility to BSP responses to BoNT treatment, whereas the TOR1A rs1182CC/DRD5 rs6283TC genotype combination appeared to contribute to the association with BoNT efficacy in BSP.
摘要：
已经研究了与眼睑痉挛（BSP）和面部肌张力障碍相关的可能的遗传变异。尽管与BSP相关的遗传变异已被广泛研究，单核苷酸多态性对这种情况的影响仍然知之甚少.此外,BSP的病因仍有待完全阐明。因此,本研究旨在评估多态性在Torsin1A（TOR1A）中的作用，韩国BSP患者的多巴胺受体D（DRD）2和DRD5基因。此外，研究了上述三个基因的遗传变异的作用。建立了一项前瞻性病例对照研究，在CHABundang医学中心眼科招募了56名BSP患者和115名健康对照者（城南，韩国）使用实时PCR进行单核苷酸多态性分析。发现TOR1Ars1182CC/DRD5rs6283TC基因型组合与BSP风险降低相关[调整比值比（AOR），0.288；P=0.013]。观察到DRD5rs6283与共显性的BSP眼周类型相关（对于TC基因型；AOR，0.370；P=0.029）和主导模型（AOR，0.406；P=0.029）。TOR1Ars1801968的隐性模型(AOR，0.245；P=0.030），和隐性(AOR，0.245；P=0.029）和过显性模型（AOR，发现DRD2rs1800497的2.437;P=0.019）与对肉毒杆菌神经毒素A（BoNT）治疗的优异反应相关。相比之下,显性(AOR,0.205；P=0.034）和添加剂（AOR，0.227；P=0.030）的DRD5rs6283模型与BoNT治疗的不良反应相关。最后，这些结果表明，DRD2rs1800497可以赋予遗传易感性BSP应答BoNT治疗，而TOR1Ars1182CC/DRD5rs6283TC基因型组合似乎与BSP中的BoNT疗效相关。
