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Fine-Mapping of SNCA in Rapid Eye Movement Sleep Behavior Disorder and Overt Synucleinopathies
L. Krohn, RYJ. Wu, K. Heilbron, JA. Ruskey, SB. Laurent, C. Blauwendraat, A. Alam, I. Arnulf, MTM. Hu, Y. Dauvilliers, B. Högl, M. Toft, KA. Bjørnarå, A. Stefani, E. Holzknecht, CC. Monaca, B. Abril, G. Plazzi, E. Antelmi, L. Ferini-Strambi, P....
Jazyk angličtina Země Spojené státy americké
Typ dokumentu časopisecké články, práce podpořená grantem
PubMed
31976583
DOI
10.1002/ana.25687
Knihovny.cz E-zdroje
- MeSH
- alfa-synuklein genetika MeSH
- demence s Lewyho tělísky genetika MeSH
- dospělí MeSH
- genetická predispozice k nemoci MeSH
- jednonukleotidový polymorfismus MeSH
- lidé středního věku MeSH
- lidé MeSH
- logistické modely MeSH
- odds ratio MeSH
- Parkinsonova nemoc genetika MeSH
- porucha chování v REM spánku genetika MeSH
- prodromální symptomy * MeSH
- senioři MeSH
- studie případů a kontrol MeSH
- synukleinopatie genetika MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
OBJECTIVE: Rapid eye movement sleep behavior disorder (RBD) is a prodromal synucleinopathy, as >80% will eventually convert to overt synucleinopathy. We performed an in-depth analysis of the SNCA locus to identify RBD-specific risk variants. METHODS: Full sequencing and genotyping of SNCA was performed in isolated/idiopathic RBD (iRBD, n = 1,076), Parkinson disease (PD, n = 1,013), dementia with Lewy bodies (DLB, n = 415), and control subjects (n = 6,155). The iRBD cases were diagnosed with RBD prior to neurodegeneration, although some have since converted. A replication cohort from 23andMe of PD patients with probable RBD (pRBD) was also analyzed (n = 1,782 cases; n = 131,250 controls). Adjusted logistic regression models and meta-analyses were performed. Effects on conversion rate were analyzed in 432 RBD patients with available data using Kaplan-Meier survival analysis. RESULTS: A 5'-region SNCA variant (rs10005233) was associated with iRBD (odds ratio [OR] = 1.43, p = 1.1E-08), which was replicated in pRBD. This variant is in linkage disequilibrium (LD) with other 5' risk variants across the different synucleinopathies. An independent iRBD-specific suggestive association (rs11732740) was detected at the 3' of SNCA (OR = 1.32, p = 4.7E-04, not statistically significant after Bonferroni correction). Homozygous carriers of both iRBD-specific SNPs were at highly increased risk for iRBD (OR = 5.74, p = 2E-06). The known top PD-associated variant (3' variant rs356182) had an opposite direction of effect in iRBD compared to PD. INTERPRETATION: There is a distinct pattern of association at the SNCA locus in RBD as compared to PD, with an opposite direction of effect at the 3' of SNCA. Several 5' SNCA variants are associated with iRBD and with pRBD in overt synucleinopathies. ANN NEUROL 2020;87:584-598.
Data Tecnica International Glen Echo MD
Department of Neurological Sciences Vita Salute San Raffaele University Milan Italy
Department of Neurology Mayo Clinic Rochester MN
Department of Neurology Oslo University Hospital Oslo Norway
Department of Neurology Philipps University Marburg Germany
Department of Sleep Medicine and Neuromuscular Disorders University of Münster Münster Germany
Departments of Neuroscience and Clinical Genomics Mayo Clinic Jacksonville FL
Laboratory of Neurogenetics National Institute on Aging National Institutes of Health Bethesda MD
Sleep Disorder Unit Carémeau Hospital University Hospital of Nîmes Nîmes France
Sleep Disorders Clinic Department of Neurology Medical University of Innsbruck Innsbruck Austria
Citace poskytuje Crossref.org
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