CYP1A2 rs762551 and ADORA2A rs5760423 Polymorphisms in Patients with Blepharospasm

被引：13

作者：

Siokas, Vasileios ^{[1
]}

Kardaras, Dimitrios ^{[2
]}

Aloizou, Athina-Maria ^{[1
]}

Liampas, Ioannis ^{[1
]}

Papageorgiou, Eleni ^{[2
]}

Drakoulis, Nikolaos ^{[3
]}

Tsatsakis, Aristidis ^{[4
]}

Mitsias, Panayiotis D. ^{[5
]}

Hadjigeorgiou, Georgios M. ^{[1
,6
]}

Tsironi, Evangelia E. ^{[2
]}

Dardiotis, Efthimios ^{[1
]}

机构：

[1] Univ Thessaly, Univ Hosp Larissa, Lab Neurogenet, Dept Neurol, Mezourlo Hill, Larisa 41100, Greece

[2] Univ Thessaly, Univ Hosp Larissa, Dept Ophthalmol, Larisa, Greece

[3] Natl & Kapodistrian Univ Athens, Fac Pharm, Sch Hlth Sci, Res Grp Clin Pharmacol & Pharmacogen, Zografos 15771, Greece

[4] Univ Crete, Sch Med, Lab Toxicol, Iraklion 71003, Greece

[5] Univ Crete, Sch Med, Dept Neurol, Iraklion 71003, Greece

[6] Univ Cyprus, Med Sch, Dept Neurol, Nicosia, Cyprus

来源：

JOURNAL OF MOLECULAR NEUROSCIENCE | 2020年 / 70卷 / 09期

关键词：

ADORA2A; Caffeine; Blepharospasm; Focal dystonia; Polymorphism; SNP; Genetics; SINGLE-NUCLEOTIDE POLYMORPHISMS; DYSTONIA; COFFEE; RISK; CONSENSUS; CAFFEINE;

D O I：

10.1007/s12031-020-01553-4

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

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.

引用

页码：1370 / 1375

页数：6

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