ArticleNature aging2025
Exome sequencing in Asian populations identifies low-frequency and rare coding variation influencing Parkinson's disease risk.
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Article in Nature aging, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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11citing papers in PubMed
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Who cites it
11 citing papers in PubMed.
- Rare-Variant Burden across Lysosomal Genes Implicates Sialylation and Ganglioside Metabolism in Parkinson's Disease.Movement disorders : official journal of the Movement Disorder Society · 2026Article
- Article
- Parkinson's disease: pathogenesis and therapeutic strategies.Molecular biomedicine · 2026Review
- Motor and Cognitive Outcome After Subthalamic Nucleus Deep Brain Stimulation in Patients with Parkinson's Disease Harboring GBA1 Variant.Movement disorders clinical practice · 2026Article
- Genetic risk loci for Parkinson's disease and dementia in a large-scale population-based Taiwanese cohort (TPMI).The Lancet regional health. Western Pacific · 2026Article
- Rare-variant burden across lysosomal genes implicates sialylation and ganglioside metabolism in Parkinson's disease.medRxiv : the preprint server for health sciences · 2026Article
- Association of LRRK2 p.A419V with Parkinson's Disease in East Asians and analysis of age at onset.NPJ Parkinson's disease · 2026Article
- Multi-omics insights into GBA1-associated Parkinson's disease: interplay of genomics, transcriptomics, proteomics, and lipidomics.Molecular neurodegeneration · 2026Review
- ThemedRxiv : the preprint server for health sciences · 2025Article
- Clinical and functional evidence for the pathogenicity of the LRRK2 p.Arg1067Gln variant.NPJ Parkinson's disease · 2025Article
- RareJournal of Parkinson's disease · 2025Article
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Authors and funding
50 authors.
Elaine Gy Chew *Lee Kong Chian School of Medicine, Nanyang Technological University Singapore, Singapore, Singapore.ORCID http://orcid.org/0000-0001-9763-703X
Zhehao Liu *Duke-National University of Singapore Medical School, Singapore, Singapore.
Zheng Li *Genome Institute of Singapore, Agency for Science, Technology and Research, Singapore, Singapore.ORCID http://orcid.org/0000-0002-7060-2213
Sun Ju Chung *Department of Neurology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, South Korea.
Michelle M LianLee Kong Chian School of Medicine, Nanyang Technological University Singapore, Singapore, Singapore.ORCID http://orcid.org/0000-0001-6881-2660
Moses TandionoLee Kong Chian School of Medicine, Nanyang Technological University Singapore, Singapore, Singapore.
Yue Jing HengLee Kong Chian School of Medicine, Nanyang Technological University Singapore, Singapore, Singapore.
Ebonne Y NgDepartment of Neurology, National Neuroscience Institute, Singapore General Hospital, Singapore, Singapore.
Louis Cs TanDepartment of Neurology, National Neuroscience Institute, Singapore, Singapore.
Wee Ling ChngDuke-National University of Singapore Medical School, Singapore, Singapore.
Tiak Ju TanGenome Institute of Singapore, Agency for Science, Technology and Research, Singapore, Singapore.
Esther Kl PehBioprocessing Technology Institute, Agency for Science, Technology and Research, Singapore, Singapore.
Ying Swan HoBioprocessing Technology Institute, Agency for Science, Technology and Research, Singapore, Singapore.
Xiao Yin ChenGenome Institute of Singapore, Agency for Science, Technology and Research, Singapore, Singapore.
Erin Yt LimGenome Institute of Singapore, Agency for Science, Technology and Research, Singapore, Singapore.
Chu Hua ChangLee Kong Chian School of Medicine, Nanyang Technological University Singapore, Singapore, Singapore.
Jonavan J LeongLee Kong Chian School of Medicine, Nanyang Technological University Singapore, Singapore, Singapore.ORCID http://orcid.org/0009-0004-3763-3888
Ting Xuan PehGenome Institute of Singapore, Agency for Science, Technology and Research, Singapore, Singapore.
Ling Ling ChanDuke-National University of Singapore Medical School, Singapore, Singapore.
Yinxia ChaoDuke-National University of Singapore Medical School, Singapore, Singapore.
Wing-Lok AuDepartment of Neurology, National Neuroscience Institute, Singapore, Singapore.
Kumar M PrakashDuke-National University of Singapore Medical School, Singapore, Singapore.
Jia Lun LimDepartment of Biomedical Science, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.
Yi Wen TayDepartment of Biomedical Science, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.
Vincent MokDepartment of Medicine and Therapeutics, Division of Neurology, Margaret K.L. Cheung Research Centre for Management of Parkinsonism, Lui Che Woo Institute of Innovative Medicine, Prince of Wales Hospital, The Chinese University of Hong Kong, Hong Kong, China.ORCID http://orcid.org/0000-0002-8102-8835
Anne Yy ChanDepartment of Medicine and Therapeutics, Division of Neurology, Margaret K.L. Cheung Research Centre for Management of Parkinsonism, Lui Che Woo Institute of Innovative Medicine, Prince of Wales Hospital, The Chinese University of Hong Kong, Hong Kong, China.
Juei-Jueng LinDepartment of Neurology, Chushang Show-Chwan Hospital, Nantou, Taiwan.
Beom S JeonDepartment of Neurology, Seoul National University Hospital, Seoul, South Korea.
Kyuyoung SongDepartment of Biochemistry and Molecular Biology, University of Ulsan College of Medicine, Seoul, South Korea.
Clement C ThamDepartment of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong, China.ORCID http://orcid.org/0000-0003-4407-6907
Chi Pui PangDepartment of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong, China.
Jeeyun AhnDepartment of Ophthalmology, Seoul Metropolitan Government, Seoul National University Boramae Medical Center, Seoul, South Korea.
Kyu Hyung ParkDepartment of Ophthalmology, Seoul National University Hospital, Seoul, Korea.
Janey L WiggsDepartment of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA, USA.
Tin AungDuke-National University of Singapore Medical School, Singapore, Singapore.
Ai Huey TanDivision of Neurology, Department of Medicine, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.
Azlina Ahmad AnnuarDepartment of Biomedical Science, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.
Mary B MakariousLaboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.ORCID http://orcid.org/0000-0002-7978-1051
Cornelis BlauwendraatLaboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.ORCID http://orcid.org/0000-0001-9358-8111
Mike A NallsCenter for Alzheimer's and Related Dementias, National Institute on Aging, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.ORCID http://orcid.org/0000-0003-0319-4325
Laurie A RobakDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Roy N AlcalayTel Aviv Sourasky Medical Center, Tel Aviv, Israel.
Ziv Gan-OrThe Neuro (Montréal Neurological Institute-Hospital), McGill University, Montréal, QC, Canada.
Richard ReynoldsLee Kong Chian School of Medicine, Nanyang Technological University Singapore, Singapore, Singapore.
Shen-Yang LimDivision of Neurology, Department of Medicine, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.
Yun XiaLee Kong Chian School of Medicine, Nanyang Technological University Singapore, Singapore, Singapore.
Chiea Chuen KhorDuke-National University of Singapore Medical School, Singapore, Singapore. khorcc@gis.a-star.edu.sg.ORCID http://orcid.org/0000-0002-1128-4729
Eng-King TanDuke-National University of Singapore Medical School, Singapore, Singapore. gnrtek@sgh.com.sg.ORCID http://orcid.org/0000-0003-2977-9743
Zhenxun WangDuke-National University of Singapore Medical School, Singapore, Singapore. zhenxun.wang@duke-nus.edu.sg.ORCID http://orcid.org/0000-0002-7862-4636
Jia Nee FooLee Kong Chian School of Medicine, Nanyang Technological University Singapore, Singapore, Singapore. jianee.foo@ntu.edu.sg.ORCID http://orcid.org/0000-0001-9899-2308
Funding
STRIDESOT2OD027852 · OD · FOUR POINTS TECHNOLOGY, LLC · PI Joel A Lipkin · 2018 to 2026
$255.6MSTRIDES OT2OD027060 · OD · CARAHSOFT TECHNOLOGY CORPORATION · PI Terry Drinkwine · 2018 to 2026
$134.1MNIH STRIDES - Azure and Associated Services and Training.OT2OD032100 · OD · DELL FEDERAL SYSTEMS L.P. · PI Amy K HammondOdwyer, Erum Siddiqui · 2021 to 2026
$62.2MP30 Core Grant for Vision ResearchP30EY014104 · NEI · MASSACHUSETTS EYE AND EAR INFIRMARY · PI Janey L Wiggs · 2002 to 2026
$15.1MGene-Environment Interactions in GlaucomaR01EY015473 · NEI · MASSACHUSETTS EYE AND EAR INFIRMARY · PI PASQUALE, LOUIS ROBERT · 2005 to 2021
$8.3MMinistry of Education - Singapore (MOE) MOE-MOET32020-0004Ministry of Education - Singapore (MOE) MOE-T2EP30220-0005Ministry of Education - Singapore (MOE) MOE-T2EP30220-0008Ministry of Health -Singapore (MOH) MOH-001110Ministry of Health -Singapore (MOH) MOH-001329MOH | National Medical Research Council (NMRC) MOH-000207MOH | National Medical Research Council (NMRC) MOH-000435MOH | National Medical Research Council (NMRC) MOH-000559MOH | National Medical Research Council (NMRC) MOH-001072MOH | National Medical Research Council (NMRC) MOH-001110MOH | National Medical Research Council (NMRC) MOH-001214NEI NIH HHS P30 EY014104NEI NIH HHS R01 EY015473NIH HHS OT2 OD027060NIH HHS OT2 OD027852NIH HHS OT2 OD032100
Abstract
Parkinson's disease (PD) is an incurable, progressive and common movement disorder that is increasing in incidence globally because of population aging. We hypothesized that the landscape of rare, protein-altering variants could provide further insights into disease pathogenesis. Here we performed whole-exome sequencing followed by gene-based tests on 4,298 PD cases and 5,512 controls of Asian ancestry. We showed that GBA1 and SMPD1 were significantly associated with PD risk, with replication in a further 5,585 PD cases and 5,642 controls. We further refined variant classification using in vitro assays and showed that SMPD1 variants with reduced enzymatic activity display the strongest association (<44% activity, odds ratio (OR) = 2.24, P = 1.25 × 10
Indexed as
Asian PeopleExome SequencingGenetic Predisposition to DiseaseParkinson DiseaseAgedCase-Control StudiesFemaleGenetic VariationGlucosylceramidaseHumansMaleMiddle AgedGBA protein, humanGlucosylceramidase
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.