Τίτλος:
CYP1A2 rs762551 and ADORA2A rs5760423 Polymorphisms in Patients with Blepharospasm
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
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. © 2020, Springer Science+Business Media, LLC, part of Springer Nature.
Συγγραφείς:
Siokas, V.
Kardaras, D.
Aloizou, A.-M.
Liampas, I.
Papageorgiou, E.
Drakoulis, N.
Tsatsakis, A.
Mitsias, P.D.
Hadjigeorgiou, G.M.
Tsironi, E.E.
Dardiotis, E.
Περιοδικό:
Journal of Molecular Neuroscience
Εκδότης:
Humana Press Inc.
Λέξεις-κλειδιά:
adenosine receptor; adenosine receptor subtype A2a; caffeine; cytochrome P450 1A2; unclassified drug; adenosine A2a receptor; ADORA2A protein, human; CYP1A2 protein, human; cytochrome P450 1A2, aged; Article; blepharospasm; clinical examination; cohort analysis; controlled study; DNA isolation; female; genetic polymorphism; genetic susceptibility; genetic variability; genotype; human; major clinical study; male; onset age; Parkinson disease; single nucleotide polymorphism; blepharospasm; genetics; middle aged; single nucleotide polymorphism, Aged; Blepharospasm; Cytochrome P-450 CYP1A2; Female; Humans; Male; Middle Aged; Polymorphism, Single Nucleotide; Receptor, Adenosine A2A
DOI:
10.1007/s12031-020-01553-4
