| Literature DB >> 32424513 |
Vasileios Siokas1, Dimitrios Kardaras2, Athina-Maria Aloizou1, Ioannis Liampas1, Eleni Papageorgiou2, Nikolaos Drakoulis3, Aristidis Tsatsakis4, Panayiotis D Mitsias5, Georgios M Hadjigeorgiou1,6, Evangelia E Tsironi2, Efthimios Dardiotis7.
Abstract
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.Entities:
Keywords: ADORA2A; Blepharospasm; CYP1A2; Caffeine; Focal dystonia; Genetics; Polymorphism; SNP
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Year: 2020 PMID： 32424513 DOI： 10.1007/s12031-020-01553-4
Source DB: PubMed Journal: J Mol Neurosci ISSN： 0895-8696 Impact factor: 3.444