RIC3 variants are not associated with Parkinson's disease in large European, Latin American, or East Asian cohorts.


Journal

Neurobiology of aging
ISSN: 1558-1497
Titre abrégé: Neurobiol Aging
Pays: United States
ID NLM: 8100437

Informations de publication

Date de publication:
01 2022
Historique:
received: 01 04 2021
revised: 16 07 2021
accepted: 14 08 2021
pubmed: 21 9 2021
medline: 19 2 2022
entrez: 20 9 2021
Statut: ppublish

Résumé

Parkinson's disease (PD) is a complex neurodegenerative disorder in which both rare and common genetic variants contribute to disease risk. Multiple genes have been reported to be linked to monogenic PD but these only explain a fraction of the observed familial aggregation. Rare variants in RIC3 have been suggested to be associated with PD in the Indian population. However, replication studies yielded inconsistent results. We further investigate the role of RIC3 variants in PD in European cohorts using individual-level genotyping data from 14,671 PD patients and 17,667 controls, as well as whole-genome sequencing data from 1,615 patients and 961 controls. We also investigated RIC3 using summary statistics from a Latin American cohort of 1,481 individuals, and from a cohort of 31,575 individuals of East Asian ancestry. We did not identify any association between RIC3 and PD in any of the cohorts. However, more studies of rare variants in non-European ancestry populations, in particular South Asian populations, are necessary to further evaluate the world-wide role of RIC3 in PD etiology.

Identifiants

pubmed: 34538707
pii: S0197-4580(21)00263-3
doi: 10.1016/j.neurobiolaging.2021.08.009
pmc: PMC9011339
mid: NIHMS1794037
pii:
doi:

Substances chimiques

Intracellular Signaling Peptides and Proteins 0
RIC3 protein, human 0

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

264-268

Subventions

Organisme : Intramural NIH HHS
ID : Z99 AG999999
Pays : United States

Informations de copyright

Copyright © 2021 The Authors. Published by Elsevier Inc. All rights reserved.

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Auteurs

Kajsa Brolin (K)

Translational Neurogenetics Unit, Wallenberg Neuroscience Center, Department of Experimental Medical Science, Lund University, Lund, Sweden. Electronic address: kajsa.brolin@med.lu.se.

Sara Bandres-Ciga (S)

Molecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.

Hampton Leonard (H)

Molecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA; Center for Alzheimer's and Related Dementias, National Institute on Aging, Bethesda, MD, USA; Data Tecnica International, Glen Echo, MD, USA.

Mary B Makarious (MB)

Molecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK; UCL Movement Disorders Centre, University College London, London, UK.

Cornelis Blauwendraat (C)

Molecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.

Ignacio F Mata (IF)

Genomic Medicine, Lerner Research Institute, Cleveland Clinic Foundation, Cleveland, OH, USA.

Jia Nee Foo (JN)

Lee Kong Chian School of Medicine, Nanyang Technological University Singapore, Singapore; Human Genetics, Genome Institute of Singapore, A*STAR, Singapore.

Lasse Pihlstrøm (L)

Department of Neurology, Oslo University Hospital, Oslo, Norway.

Maria Swanberg (M)

Translational Neurogenetics Unit, Wallenberg Neuroscience Center, Department of Experimental Medical Science, Lund University, Lund, Sweden.

Ziv Gan-Or (Z)

Department of Human Genetics, McGill University, Montreal, Quebec, Canada; Montreal Neurological Institute, McGill University, Montreal, Quebec, Canada; Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada.

Manuela Mx Tan (MM)

Department of Neurology, Oslo University Hospital, Oslo, Norway.

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Classifications MeSH