Blepharospasm (BSP) is a neurological movement disorder. Coffee consumption has been found to have a protective effect against BSP. BSP and apraxia of eyelid opening are particularly common among patients with PD. The CYP1A2 rs762551 and ADORA2A rs5760423 variants have been previously marginally associated with the risk of PD and are also implicated in caffeine metabolism pathways. The aim of the present study was to evaluate the effect of the CYP1A2 rs762551 and ADORA2A rs5760423 variants on BSP. A Southeastern European Caucasian (SEC) cohort of 206 BSP patients and 206 healthy controls was genotyped for rs762551 and rs5760423. CYP1A2 rs762551 was associated with a decreased BSP risk in the dominant (OR (95% CI) 0.62 (0.41–0.92), p = 0.017), log-additive (OR (95% CI) 0.68 (0.51–0.92), p = 0.011), and co-dominant modes (for the CC genotype OR (95% CI) 0.49 (0.25–0.93), p = 0.038). We provide preliminary evidence that CYP1A2 rs762551 is associated with BSP. Further studies and replication of our results are needed.

中文翻译：

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眼睑痉挛患者的CYP1A2 rs762551和ADORA2A rs5760423多态性。

眼睑痉挛（BSP）是一种神经系统运动障碍。已发现食用咖啡对BSP具有保护作用。BPD和眼睑张开失用在PD患者中尤为常见。CYP1A2 rs762551和ADORA2A rs5760423变体以前与PD的风险微弱相关，也与咖啡因代谢途径有关。本研究的目的是评估CYP1A2 rs762551和ADORA2A rs5760423变体对BSP的影响。东南高加索（SEC）队列206名BSP患者和206名健康对照的基因分为rs762551和rs5760423。CYP1A2 rs762551与显性（OR（95％CI）0.62（0.41-0.92），p  = 0.017），对数加成（OR（95％CI）0.68（0.51-0.92），p的BSP风险降低相关 = 0.011）和共主导模式（对于CC基因型OR（95％CI）0.49（0.25-0.93），p  = 0.038）。我们提供了CYP1A2 rs762551与BSP相关的初步证据。我们需要进一步研究和复制我们的结果。