RIC3 variants are not associated with Parkinson's disease in large European, Latin American, or East Asian cohorts
Copyright © 2021 The Authors. Published by Elsevier Inc. All rights reserved..
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.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2022 |
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| Erschienen: |
2022 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:109 |
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| Enthalten in: |
Neurobiology of aging - 109(2022) vom: 08. Jan., Seite 264-268 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Brolin, Kajsa [VerfasserIn] |
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| Links: |
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| Themen: |
Genetics |
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| Anmerkungen: |
Date Completed 18.02.2022 Date Revised 07.12.2022 published: Print-Electronic Citation Status MEDLINE |
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| doi: |
10.1016/j.neurobiolaging.2021.08.009 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM330806211 |
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| 520 | |a Copyright © 2021 The Authors. Published by Elsevier Inc. All rights reserved. | ||
| 520 | |a 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 | ||
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Research Support, Non-U.S. Gov't | |
| 650 | 4 | |a Genetics | |
| 650 | 4 | |a Parkinson's disease | |
| 650 | 4 | |a RIC3 | |
| 650 | 7 | |a Intracellular Signaling Peptides and Proteins |2 NLM | |
| 650 | 7 | |a RIC3 protein, human |2 NLM | |
| 700 | 1 | |a Bandres-Ciga, Sara |e verfasserin |4 aut | |
| 700 | 1 | |a Leonard, Hampton |e verfasserin |4 aut | |
| 700 | 1 | |a Makarious, Mary B |e verfasserin |4 aut | |
| 700 | 1 | |a Blauwendraat, Cornelis |e verfasserin |4 aut | |
| 700 | 1 | |a Mata, Ignacio F |e verfasserin |4 aut | |
| 700 | 1 | |a Foo, Jia Nee |e verfasserin |4 aut | |
| 700 | 1 | |a Pihlstrøm, Lasse |e verfasserin |4 aut | |
| 700 | 1 | |a Swanberg, Maria |e verfasserin |4 aut | |
| 700 | 1 | |a Gan-Or, Ziv |e verfasserin |4 aut | |
| 700 | 1 | |a Tan, Manuela Mx |e verfasserin |4 aut | |
| 700 | 0 | |a International Parkinson's Disease Genomics Consortium |e verfasserin |4 aut | |
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