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

Brolin, Kajsa LU orcid ; Bandres-Ciga, Sara ; Leonard, Hampton ; Makarious, Mary B. ; Blauwendraat, Cornelis ; Mata, Ignacio F. ; Foo, Jia Nee ; Pihlstrøm, Lasse ; Swanberg, Maria LU and Gan-Or, Ziv , et al. (2022) In Neurobiology of Aging 109. p.264-268
Abstract

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... (More)

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.

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publishing date
type
Contribution to journal
publication status
published
subject
keywords
Genetics, Parkinson's disease, RIC3
in
Neurobiology of Aging
volume
109
pages
264 - 268
publisher
Elsevier
external identifiers
  • scopus:85115162085
  • pmid:34538707
ISSN
0197-4580
DOI
10.1016/j.neurobiolaging.2021.08.009
language
English
LU publication?
yes
additional info
Funding Information: The authors would like to thank the participants who donated their time and biological samples, making this study possible. We would like to thank all members of the International Parkinson's Disease Genomic Consortium (IPDGC), the Latin American Research consortium on the Genetics of PD (LARGE-PD), and the East Asian PD GWAS. For a complete overview of members, acknowledgments and funding, please see http://pdgenetics.org/partners and http://large-pd.org/. This work was supported in part by the Norwegian South-East Regional Health Authority (Helse S?r-?st RHF) (supporting MMXT and LP) and in part by the Swedish Research Council (VR) and ?ke Wiberg's foundation (supporting KB and MS). The authors would also like to thank the Accelerating Medicines Partnership - Parkinson's disease (AMP-PD). Data used in preparation of this article were obtained from the AMP-PD Knowledge Platform in which the clinical data and biosamples were obtained from the Fox Investigation for New Discovery of Biomarkers (BioFIND), the Harvard Biomarker Study (HBS), the Parkinson's Progression Markers Initiative (PPMI), and the Parkinson's Disease Biomarkers Program (PDBP). The investigators for each cohort have not participated in reviewing the data analysis or content of the manuscript. More information on the cohorts can be found in the supplementary material. Up-to-date information for AMP-PD can be found at https://www.amp-pd.org. Funding Information: The authors would like to thank the participants who donated their time and biological samples, making this study possible. We would like to thank all members of the International Parkinson's Disease Genomic Consortium (IPDGC), the Latin American Research consortium on the Genetics of PD (LARGE-PD), and the East Asian PD GWAS. For a complete overview of members, acknowledgments and funding, please see http://pdgenetics.org/partners and http://large-pd.org/ . This work was supported in part by the Norwegian South-East Regional Health Authority (Helse Sør-Øst RHF) (supporting MMXT and LP) and in part by the Swedish Research Council (VR) and Åke Wiberg's foundation (supporting KB and MS). The authors would also like to thank the Accelerating Medicines Partnership - Parkinson's disease (AMP-PD). Data used in preparation of this article were obtained from the AMP-PD Knowledge Platform in which the clinical data and biosamples were obtained from the Fox Investigation for New Discovery of Biomarkers (BioFIND), the Harvard Biomarker Study (HBS), the Parkinson's Progression Markers Initiative (PPMI), and the Parkinson's Disease Biomarkers Program (PDBP). The investigators for each cohort have not participated in reviewing the data analysis or content of the manuscript. More information on the cohorts can be found in the supplementary material. Up-to-date information for AMP-PD can be found at https://www.amp-pd.org . Publisher Copyright: © 2021 The Authors Copyright: Copyright 2021 Elsevier B.V., All rights reserved.
id
d88f01a8-9f86-4f7c-becb-3e7e36aaf438
date added to LUP
2021-10-01 15:53:25
date last changed
2024-04-06 09:47:58
@article{d88f01a8-9f86-4f7c-becb-3e7e36aaf438,
  abstract     = {{<p>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.</p>}},
  author       = {{Brolin, Kajsa and Bandres-Ciga, Sara and Leonard, Hampton and Makarious, Mary B. and Blauwendraat, Cornelis and Mata, Ignacio F. and Foo, Jia Nee and Pihlstrøm, Lasse and Swanberg, Maria and Gan-Or, Ziv and Tan, Manuela MX}},
  issn         = {{0197-4580}},
  keywords     = {{Genetics; Parkinson's disease; RIC3}},
  language     = {{eng}},
  pages        = {{264--268}},
  publisher    = {{Elsevier}},
  series       = {{Neurobiology of Aging}},
  title        = {{RIC3 variants are not associated with Parkinson's disease in large European, Latin American, or East Asian cohorts}},
  url          = {{http://dx.doi.org/10.1016/j.neurobiolaging.2021.08.009}},
  doi          = {{10.1016/j.neurobiolaging.2021.08.009}},
  volume       = {{109}},
  year         = {{2022}},
}