Multi-ancestry genome-wide association meta-analysis of Parkinson’s disease

Although over 90 independent risk variants have been identified for Parkinson’s disease using genome-wide association studies, most studies have been performed in just one population at a time. Here we performed a large-scale multi-ancestry meta-analysis of Parkinson’s disease with 49,049 cases, 18,...

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Autores: Kim, Jonggeol Jeffrey, Vitale, Dan, Véliz Otani, Diego, Lian, Michelle Mulan, Heilbron, Karl, 23andMe Research Team, Iwaki, Hirotaka, Lake, Julie, Warly Solsberg, Caroline, Leonard, Hampton, Makarious, Mary B., Tan, Eng-King, Singleton, Andrew B., Bandres-Ciga, Sara, Noyce, Alastair J., Cubo Delgado, Esther, Global Parkinson's Genetics Program, Blauwendraat, Cornelis, Nalls, Mike A., Nee Foo, Jia, Mata, Ignacio
Formato: artículo
Estado:Versión publicada
Fecha de publicación:2023
País:España
Recursos:Universidad de Burgos (UBU)
Repositorio:Repositorio Institucional de la Universidad de Burgos (RIUBU)
OAI Identifier:oai:riubu.ubu.es:10259/8858
Acesso em linha:http://hdl.handle.net/10259/8858
Access Level:acceso abierto
Palavra-chave:Sistema nervioso-Enfermedades
Medicina
Neurología
Nervous system-Diseases
Medicine
Neurology
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spelling Multi-ancestry genome-wide association meta-analysis of Parkinson’s diseaseKim, Jonggeol JeffreyVitale, DanVéliz Otani, DiegoLian, Michelle MulanHeilbron, Karl23andMe Research TeamIwaki, HirotakaLake, JulieWarly Solsberg, CarolineLeonard, HamptonMakarious, Mary B.Tan, Eng-KingSingleton, Andrew B.Bandres-Ciga, SaraNoyce, Alastair J.Cubo Delgado, EstherGlobal Parkinson's Genetics ProgramBlauwendraat, CornelisNalls, Mike A.Nee Foo, JiaMata, IgnacioSistema nervioso-EnfermedadesMedicinaNeurologíaNervous system-DiseasesMedicineNeurologyAlthough over 90 independent risk variants have been identified for Parkinson’s disease using genome-wide association studies, most studies have been performed in just one population at a time. Here we performed a large-scale multi-ancestry meta-analysis of Parkinson’s disease with 49,049 cases, 18,785 proxy cases and 2,458,063 controls including individuals of European, East Asian, Latin American and African ancestry. In a meta-analysis, we identified 78 independent genome-wide significant loci, including 12 potentially novel loci (MTF2, PIK3CA, ADD1, SYBU, IRS2, USP8, PIGL, FASN, MYLK2, USP25, EP300 and PPP6R2) and fine-mapped 6 putative causal variants at 6 known PD loci. By combining our results with publicly available eQTL data, we identified 25 putative risk genes in these novel loci whose expression is associated with PD risk. This work lays the groundwork for future efforts aimed at identifying PD loci in non-European populations.Springer Nature202420242023info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfhttp://hdl.handle.net/10259/8858reponame:Repositorio Institucional de la Universidad de Burgos (RIUBU)instname:Universidad de Burgos (UBU)InglésNature Genetics. 2024, V. 56, n. 1, p. 27-36https://doi.org/10.1038/s41588-023-01584-8Atribución 4.0 Internacionalhttp://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccessoai:riubu.ubu.es:10259/88582026-05-28T07:56:11Z
dc.title.none.fl_str_mv Multi-ancestry genome-wide association meta-analysis of Parkinson’s disease
title Multi-ancestry genome-wide association meta-analysis of Parkinson’s disease
spellingShingle Multi-ancestry genome-wide association meta-analysis of Parkinson’s disease
Kim, Jonggeol Jeffrey
Sistema nervioso-Enfermedades
Medicina
Neurología
Nervous system-Diseases
Medicine
Neurology
title_short Multi-ancestry genome-wide association meta-analysis of Parkinson’s disease
title_full Multi-ancestry genome-wide association meta-analysis of Parkinson’s disease
title_fullStr Multi-ancestry genome-wide association meta-analysis of Parkinson’s disease
title_full_unstemmed Multi-ancestry genome-wide association meta-analysis of Parkinson’s disease
title_sort Multi-ancestry genome-wide association meta-analysis of Parkinson’s disease
dc.creator.none.fl_str_mv Kim, Jonggeol Jeffrey
Vitale, Dan
Véliz Otani, Diego
Lian, Michelle Mulan
Heilbron, Karl
23andMe Research Team
Iwaki, Hirotaka
Lake, Julie
Warly Solsberg, Caroline
Leonard, Hampton
Makarious, Mary B.
Tan, Eng-King
Singleton, Andrew B.
Bandres-Ciga, Sara
Noyce, Alastair J.
Cubo Delgado, Esther
Global Parkinson's Genetics Program
Blauwendraat, Cornelis
Nalls, Mike A.
Nee Foo, Jia
Mata, Ignacio
author Kim, Jonggeol Jeffrey
author_facet Kim, Jonggeol Jeffrey
Vitale, Dan
Véliz Otani, Diego
Lian, Michelle Mulan
Heilbron, Karl
23andMe Research Team
Iwaki, Hirotaka
Lake, Julie
Warly Solsberg, Caroline
Leonard, Hampton
Makarious, Mary B.
Tan, Eng-King
Singleton, Andrew B.
Bandres-Ciga, Sara
Noyce, Alastair J.
Cubo Delgado, Esther
Global Parkinson's Genetics Program
Blauwendraat, Cornelis
Nalls, Mike A.
Nee Foo, Jia
Mata, Ignacio
author_role author
author2 Vitale, Dan
Véliz Otani, Diego
Lian, Michelle Mulan
Heilbron, Karl
23andMe Research Team
Iwaki, Hirotaka
Lake, Julie
Warly Solsberg, Caroline
Leonard, Hampton
Makarious, Mary B.
Tan, Eng-King
Singleton, Andrew B.
Bandres-Ciga, Sara
Noyce, Alastair J.
Cubo Delgado, Esther
Global Parkinson's Genetics Program
Blauwendraat, Cornelis
Nalls, Mike A.
Nee Foo, Jia
Mata, Ignacio
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv Sistema nervioso-Enfermedades
Medicina
Neurología
Nervous system-Diseases
Medicine
Neurology
topic Sistema nervioso-Enfermedades
Medicina
Neurología
Nervous system-Diseases
Medicine
Neurology
description Although over 90 independent risk variants have been identified for Parkinson’s disease using genome-wide association studies, most studies have been performed in just one population at a time. Here we performed a large-scale multi-ancestry meta-analysis of Parkinson’s disease with 49,049 cases, 18,785 proxy cases and 2,458,063 controls including individuals of European, East Asian, Latin American and African ancestry. In a meta-analysis, we identified 78 independent genome-wide significant loci, including 12 potentially novel loci (MTF2, PIK3CA, ADD1, SYBU, IRS2, USP8, PIGL, FASN, MYLK2, USP25, EP300 and PPP6R2) and fine-mapped 6 putative causal variants at 6 known PD loci. By combining our results with publicly available eQTL data, we identified 25 putative risk genes in these novel loci whose expression is associated with PD risk. This work lays the groundwork for future efforts aimed at identifying PD loci in non-European populations.
publishDate 2023
dc.date.none.fl_str_mv 2023
2024
2024
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/10259/8858
url http://hdl.handle.net/10259/8858
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv Nature Genetics. 2024, V. 56, n. 1, p. 27-36
https://doi.org/10.1038/s41588-023-01584-8
dc.rights.none.fl_str_mv Atribución 4.0 Internacional
http://creativecommons.org/licenses/by/4.0/
info:eu-repo/semantics/openAccess
rights_invalid_str_mv Atribución 4.0 Internacional
http://creativecommons.org/licenses/by/4.0/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Springer Nature
publisher.none.fl_str_mv Springer Nature
dc.source.none.fl_str_mv reponame:Repositorio Institucional de la Universidad de Burgos (RIUBU)
instname:Universidad de Burgos (UBU)
instname_str Universidad de Burgos (UBU)
reponame_str Repositorio Institucional de la Universidad de Burgos (RIUBU)
collection Repositorio Institucional de la Universidad de Burgos (RIUBU)
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15,300719

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