Fine-mapping of snca in rem sleep behavior ...
Type de document :
Article dans une revue scientifique: Article original
DOI :
PMID :
URL permanente :
Titre :
Fine-mapping of snca in rem sleep behavior disorder and overt synucleinopathies
Auteur(s) :
Krohn, Lynne [Auteur]
Wu, Richard Yj [Auteur]
Heilbron, Karl [Auteur]
Ruskey, Jennifer A. [Auteur]
Laurent, Sandra B. [Auteur]
Blauwendraat, Cornelis [Auteur]
Alam, Armaghan [Auteur]
Arnulf, Isabelle [Auteur]
Hu, Michele T. M. [Auteur]
Dauvilliers, Yves [Auteur]
Hogl, Birgit [Auteur]
Toft, Mathias [Auteur]
Bjornara, Kari Anne [Auteur]
Stefani, Ambra [Auteur]
Holzknecht, Evi [Auteur]
Meriaux, Christelle [Auteur]
Troubles cognitifs dégénératifs et vasculaires - U 1171 - EA 1046 [TCDV]
Troubles cognitifs dégénératifs et vasculaires - U1171
Beatriz, Abril [Auteur]
Plazzi, Giuseppe [Auteur]
Antelmi, Elena [Auteur]
Ferini-Strambi, Luigi [Auteur]
Young, Peter [Auteur]
Heidbreder, Anna [Auteur]
Cochen De Cock, Valerie [Auteur]
Mollenhauer, Brit [Auteur]
Sixel-Doring, Friederike [Auteur]
Trenkwalder, Claudia [Auteur]
Sonka, Karel [Auteur]
Kemlink, David [Auteur]
Figorilli, Michela [Auteur]
Puligheddu, Monica [Auteur]
Dijkstra, Femke [Auteur]
Viaene, Mineke [Auteur]
Oertel, Wolfang [Auteur]
Toffoli, Marco [Auteur]
Gigli, Gian Luigi [Auteur]
Valente, Mariarosaria [Auteur]
Gagnon, Jean-Francois [Auteur]
Nalls, Mike A. [Auteur]
Singleton, Andrew B. [Auteur]
Desautels, Alex [Auteur]
Montplaisir, Jacques Y. [Auteur]
Cannon, Paul [Auteur]
Ross, Owen A. [Auteur]
Boeve, Bradley F. [Auteur]
Dupre, Nicolas [Auteur]
Fon, Edward A. [Auteur]
Postuma, Ronald B. [Auteur]
Pihlstrom, Lasse [Auteur]
Rouleau, Guy A. [Auteur]
Gan-Or, Ziv [Auteur]
Wu, Richard Yj [Auteur]
Heilbron, Karl [Auteur]
Ruskey, Jennifer A. [Auteur]
Laurent, Sandra B. [Auteur]
Blauwendraat, Cornelis [Auteur]
Alam, Armaghan [Auteur]
Arnulf, Isabelle [Auteur]
Hu, Michele T. M. [Auteur]
Dauvilliers, Yves [Auteur]
Hogl, Birgit [Auteur]
Toft, Mathias [Auteur]
Bjornara, Kari Anne [Auteur]
Stefani, Ambra [Auteur]
Holzknecht, Evi [Auteur]
Meriaux, Christelle [Auteur]
Troubles cognitifs dégénératifs et vasculaires - U 1171 - EA 1046 [TCDV]
Troubles cognitifs dégénératifs et vasculaires - U1171
Beatriz, Abril [Auteur]
Plazzi, Giuseppe [Auteur]
Antelmi, Elena [Auteur]
Ferini-Strambi, Luigi [Auteur]
Young, Peter [Auteur]
Heidbreder, Anna [Auteur]
Cochen De Cock, Valerie [Auteur]
Mollenhauer, Brit [Auteur]
Sixel-Doring, Friederike [Auteur]
Trenkwalder, Claudia [Auteur]
Sonka, Karel [Auteur]
Kemlink, David [Auteur]
Figorilli, Michela [Auteur]
Puligheddu, Monica [Auteur]
Dijkstra, Femke [Auteur]
Viaene, Mineke [Auteur]
Oertel, Wolfang [Auteur]
Toffoli, Marco [Auteur]
Gigli, Gian Luigi [Auteur]
Valente, Mariarosaria [Auteur]
Gagnon, Jean-Francois [Auteur]
Nalls, Mike A. [Auteur]
Singleton, Andrew B. [Auteur]
Desautels, Alex [Auteur]
Montplaisir, Jacques Y. [Auteur]
Cannon, Paul [Auteur]
Ross, Owen A. [Auteur]
Boeve, Bradley F. [Auteur]
Dupre, Nicolas [Auteur]
Fon, Edward A. [Auteur]
Postuma, Ronald B. [Auteur]
Pihlstrom, Lasse [Auteur]
Rouleau, Guy A. [Auteur]
Gan-Or, Ziv [Auteur]
Titre de la revue :
Annals of neurology
Nom court de la revue :
Ann. Neurol.
Date de publication :
2020-01-24
ISSN :
1531-8249
Discipline(s) HAL :
Sciences du Vivant [q-bio]
Résumé en anglais : [en]
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 ...
Lire la suite >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. 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. 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. 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.Lire moins >
Lire la suite >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. 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. 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. 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.Lire moins >
Langue :
Anglais
Audience :
Internationale
Vulgarisation :
Non
Établissement(s) :
CHU Lille
Inserm
Université de Lille
Inserm
Université de Lille
Collections :
Équipe(s) de recherche :
Troubles cognitifs dégénératifs et vasculaires
Date de dépôt :
2021-06-23T11:44:19Z