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

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 hav...

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Autores principales: Brolin, Kajsa, Bandres-Ciga, Sara, Leonard, Hampton, Makarious, Mary B., Blauwendraat, Cornelis, Mata, Ignacio F, Foo, Jia Nee, Pihlstrøm, Lasse, Swanberg, Maria, Gan-Or, Ziv, Tan, Manuela MX
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9011339/
https://www.ncbi.nlm.nih.gov/pubmed/34538707
http://dx.doi.org/10.1016/j.neurobiolaging.2021.08.009
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author Brolin, Kajsa
Bandres-Ciga, Sara
Leonard, Hampton
Makarious, Mary B.
Blauwendraat, Cornelis
Mata, Ignacio F
Foo, Jia Nee
Pihlstrøm, Lasse
Swanberg, Maria
Gan-Or, Ziv
Tan, Manuela MX
author_facet Brolin, Kajsa
Bandres-Ciga, Sara
Leonard, Hampton
Makarious, Mary B.
Blauwendraat, Cornelis
Mata, Ignacio F
Foo, Jia Nee
Pihlstrøm, Lasse
Swanberg, Maria
Gan-Or, Ziv
Tan, Manuela MX
author_sort Brolin, Kajsa
collection PubMed
description 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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spelling pubmed-90113392022-04-15 RIC3 variants are not associated with Parkinson’s disease in large European, Latin American, or East Asian cohorts Brolin, Kajsa Bandres-Ciga, Sara Leonard, Hampton Makarious, Mary B. Blauwendraat, Cornelis Mata, Ignacio F Foo, Jia Nee Pihlstrøm, Lasse Swanberg, Maria Gan-Or, Ziv Tan, Manuela MX Neurobiol Aging Article 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. 2022-01 2021-08-21 /pmc/articles/PMC9011339/ /pubmed/34538707 http://dx.doi.org/10.1016/j.neurobiolaging.2021.08.009 Text en https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) )
spellingShingle Article
Brolin, Kajsa
Bandres-Ciga, Sara
Leonard, Hampton
Makarious, Mary B.
Blauwendraat, Cornelis
Mata, Ignacio F
Foo, Jia Nee
Pihlstrøm, Lasse
Swanberg, Maria
Gan-Or, Ziv
Tan, Manuela MX
RIC3 variants are not associated with Parkinson’s disease in large European, Latin American, or East Asian cohorts
title RIC3 variants are not associated with Parkinson’s disease in large European, Latin American, or East Asian cohorts
title_full RIC3 variants are not associated with Parkinson’s disease in large European, Latin American, or East Asian cohorts
title_fullStr RIC3 variants are not associated with Parkinson’s disease in large European, Latin American, or East Asian cohorts
title_full_unstemmed RIC3 variants are not associated with Parkinson’s disease in large European, Latin American, or East Asian cohorts
title_short RIC3 variants are not associated with Parkinson’s disease in large European, Latin American, or East Asian cohorts
title_sort ric3 variants are not associated with parkinson’s disease in large european, latin american, or east asian cohorts
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9011339/
https://www.ncbi.nlm.nih.gov/pubmed/34538707
http://dx.doi.org/10.1016/j.neurobiolaging.2021.08.009
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