Parkinson’s Disease Genetic Loci in Rapid Eye Movement Sleep Behavior Disorder

Autor: Simon Girard, Christelle Charley Monaca, Jean-François Gagnon, Guy A. Rouleau, Thomas Mitterling, Alex Desautels, V. Cochen De Cock, C. Mirarchi, Patrick A. Dion, Anne Noreau, Isabelle Arnulf, Birgit Högl, Claire S. Leblond, Ziv Gan-Or, Birgit Frauscher, Jacques Montplaisir, Yves Dauvilliers, Ronald B. Postuma
Přispěvatelé: Fédération des Pathologies du Sommeil, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Hôpital Gui de Chauliac, Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Neuropsychiatrie : recherche épidémiologique et clinique (PSNREC), Université Montpellier 1 (UM1)-Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM), Euromov (EuroMov), Université de Montpellier (UM), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)
Rok vydání: 2015
Předmět:
Male
Oncology
medicine.medical_specialty
Neurology
Parkinson's disease
Rapid eye movement sleep
tau Proteins
REM Sleep Behavior Disorder
Disease
Polymorphism
Single Nucleotide
REM sleep behavior disorder
03 medical and health sciences
Cellular and Molecular Neuroscience
0302 clinical medicine
Internal medicine
medicine
Humans
[SDV.BBM]Life Sciences [q-bio]/Biochemistry
Molecular Biology
Neurochemistry
Survival analysis
Aged
030304 developmental biology
Receptors
Scavenger
Synucleinopathies
0303 health sciences
Lysosome-Associated Membrane Glycoproteins
Parkinson Disease
General Medicine
Middle Aged
medicine.disease
3. Good health
Genetic Loci
Case-Control Studies
Female
[SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]
Psychology
Ubiquitin Thiolesterase
Neuroscience
030217 neurology & neurosurgery
Zdroj: Journal of Molecular Neuroscience
Journal of Molecular Neuroscience, Humana Press, 2015, 56 (3), pp.617-622. ⟨10.1007/s12031-015-0569-7⟩
ISSN: 1559-1166
0895-8696
DOI: 10.1007/s12031-015-0569-7
Popis: International audience; Rapid eye movement (REM) sleep behavior disorder (RBD) is a prodromal condition for Parkinson's disease (PD) and other synucleinopathies, which often occurs many years before the onset of PD. We analyzed 261 RBD patients and 379 controls for nine PD-associated SNPs and examined their effects, first upon on RBD risk and second, on eventual progression to synucleinopathies in a prospective follow-up in a subset of patients. The SCARB2 rs6812193 (OR = 0.67, 95 % CI = 0.51-0.88, p = 0.004) and the MAPT rs12185268 (OR-0.43, 95 % CI-0.26-0.72, p = 0.001) were associated with RBD in different models. Kaplan-Meier survival analysis in a subset of RBD patients (n = 56), demonstrated that homozygous carriers of the USP25 rs2823357 SNP had progressed to synucleinopathies faster than others (log-rank p = 0.003, Breslow p = 0.005, Tarone-Ware p = 0.004). As a proof-of-concept study, these results suggest that RBD may be associated with at least a subset of PD-associated genes, and demonstrate that combining genetic and prodromal clinical data may help identifying individuals that are either more or less susceptible to develop synucleinopathies. More studies are necessary to replicate these results, and identify more genetic factors affecting progression from RBD to synucleinopathies.
Databáze: OpenAIRE
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