Laboratory of Neurogenetics, Department of Neurology, University Hospital of Larissa, University of Thessaly, Biopolis, Mezourlo Hill, 41100, Larissa, Greece.
Department of Ophthalmology, University Hospital of Larissa, University of Thessaly, Larissa, Greece.
Neuromolecular Med. 2019 Mar;21(1):68-74. doi: 10.1007/s12017-018-8519-5. Epub 2018 Dec 5.
A few genetic variants are implicated in the development of blepharospasm (BSP). The precise role of the rs6265 on the brain-derived neurotrophic factor (BDNF) gene on BSP remains controversial. The effect of rs6265 on BSP was evaluated. 206 patients with BSP and 206 healthy controls were recruited and genotyped for the rs6265. We also performed a meta-analysis, by pooling our results with those from previous studies. A significant effect of rs6265 on the risk of BSP was found in the dominant model of inheritance [odds ratio (OR) (95% confidence interval (CI) 1.52 (1.01-2.29), p = 0.044]. Mutational load analysis of rs6265 in the risk of BSP using the OR revealed that higher load of the "A" allele of rs6265 denotes higher probability of a subject to develop BSP (OR 1.48; 95% CI 1.00-2.19). Finally, pooled results from the meta-analysis revealed that the rs6265 is associated with an increased risk of BSP in the dominant model [OR 1.26; 95% CI 1.02-1.55, p = 0.03]. Also, higher load of the "A" allele of rs6265 denotes higher probability of a subject to develop BSP (OR 1.26; 95% CI 1.04-1.53). The present study provides additional evidence to the existing knowledge concerning the contribution of the rs6265 BDNF on the risk of developing BSP. While the pathophysiology and genetic susceptibility in BSP and focal dystonia are only partially understood, it seems that BDNF and rs6265 may constitute one essential risk factor that is heavily involved.
一些遗传变异与眼睑痉挛（BSP）的发展有关。rs6265 对脑源性神经营养因子（BDNF）基因在 BSP 中的确切作用仍存在争议。评估了 rs6265 对 BSP 的影响。招募了 206 例 BSP 患者和 206 例健康对照者进行 rs6265 基因分型。我们还进行了荟萃分析，将我们的结果与以前的研究结果进行了合并。在显性遗传模型中发现 rs6265 对 BSP 风险有显著影响[比值比（OR）（95%置信区间（CI）1.52（1.01-2.29），p=0.044]。使用 OR 对 rs6265 在 BSP 风险中的突变负荷分析表明，rs6265 的“A”等位基因负荷越高，个体发生 BSP 的概率越高（OR 1.48；95%CI 1.00-2.19）。最后，荟萃分析的汇总结果表明，rs6265 与显性模型中 BSP 的风险增加相关[OR 1.26；95%CI 1.02-1.55，p=0.03]。此外，rs6265 的“A”等位基因负荷越高，个体发生 BSP 的概率越高（OR 1.26；95%CI 1.04-1.53）。本研究为现有知识提供了额外的证据，即 rs6265 BDNF 对发展为 BSP 的风险的贡献。虽然 BSP 和局灶性肌张力障碍的病理生理学和遗传易感性仅部分了解，但似乎 BDNF 和 rs6265 可能构成一个重要的风险因素，涉及广泛。
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