Evidence map›Paper›PMID 37633302›Full record

SynthesisThe Lancet. Neurology2023

Identification of genetic risk loci and causal insights associated with Parkinson's disease in African and African admixed populations: a genome-wide association study.

Mie Rizig, Sara Bandres-Ciga, Mary B Makarious, Oluwadamilola Omolara Ojo, Peter Wild Crea, Oladunni Victoria Abiodun, Kristin S Levine, Sani Atta Abubakar, Charles Obiora Achoru, Dan Vitale and 73 more

Open access · greenAbstract readMeta-Analysis
PubMed Full text at PMC Publisher
In one paragraph

Synthesis in The Lancet. Neurology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 116 papers, 4 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
116citing papers in PubMed, 4 pooled it
24.5field-weighted citation impact, top 1% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

116 citing papers in PubMed, 4 syntheses or guidelines pooled it, 140 citations in OpenAlex.

  1. Genetic Landscape of Monogenic Parkinson's Disease in the African Population-A Systematic Review.Movement disorders : official journal of the Movement Disorder Society · 2026
    Pooled it
  2. GBA1 Variants with Unknown Classification Are Modest Contributors to Parkinson's Disease Susceptibility.Movement disorders : official journal of the Movement Disorder Society · 2026
    Pooled it
  3. Classification and Genotype-Phenotype Relationships of GBA1 Variants: MDSGene Systematic Review.Movement disorders : official journal of the Movement Disorder Society · 2025
    Pooled it
  4. Pooled it
  5. Does genetic testing remain relevant in advanced Parkinson's disease?Journal of neural transmission (Vienna, Austria : 1996) · 2026
    Review
  6. Article
  7. Article
  8. Review
  9. Clinical Trials in GBA1-Associated Parkinson's Disease: A Need for Molecular Classification.Movement disorders : official journal of the Movement Disorder Society · 2026
    Article
  10. Article
  11. Observational
  12. Article
  13. Review
  14. Review
  15. Article
  16. Review
  17. Article
  18. Article
  19. Review
  20. Review

56 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

83 authors at 20 institutions in 5 countries.

Mie RizigDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
Sara Bandres-CigaCenter for Alzheimer's and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
Mary B MakariousUCL Movement Disorders Centre, University College London, London, UK; Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.
Oluwadamilola Omolara OjoCollege of Medicine, University of Lagos, Idi Araba, Lagos State, Nigeria.
Peter Wild CreaCenter for Alzheimer's and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA; Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.
Oladunni Victoria AbiodunGeneral Hospital, Isolo, Lagos State, Nigeria.
Kristin S LevineCenter for Alzheimer's and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA; Data Tecnica International, Washington, DC, USA.
Sani Atta AbubakarAhmadu Bello University, Zaria, Kaduna State, Nigeria.
Charles Obiora AchoruJos University Teaching Hospital, Jos, Plateau State, Nigeria.
Dan VitaleData Tecnica International, Washington, DC, USA.
Olaleye Akinmola AdenijiFederal Medical Centre, Abeokuta, Ogun State, Nigeria.
Osigwe Paul AgabiCollege of Medicine, University of Lagos, Idi Araba, Lagos State, Nigeria.
Mathew J KoretskyCenter for Alzheimer's and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
Uchechi AgulannaLagos University Teaching Hospital, Idi Araba, Lagos State, Nigeria.
Deborah A HallDepartment of Neurological Sciences, Rush University Medical Center, Chicago, IL, USA.
Rufus Olusola AkinyemiNeuroscience and Ageing Research Unit, Institute for Advanced Medical Research and Training, College of Medicine, University of Ibadan, Ibadan, Oyo State, Nigeria.
Tao XieDepartment of Neurology, University of Chicago Medicine, Chicago, IL, USA.
Mohammed Wulgo AliFederal Teaching Hospital Gombe, Gombe State, Nigeria.
Ejaz A ShamimHuman Motor Control Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA; Kaiser Permanente Mid-Atlantic States, Largo, MD, USA; MidAtlantic Permanente Research Institute, Rockville, MD, USA.
Ifeyinwa Ani-OshekuAsokoro District Hospital, Asokoro, Abuja, Nigeria.
Mahesh PadmanabanDepartment of Neurology, University of Chicago Medicine, Chicago, IL, USA.
Ohwotemu Michael ArigbodiDelta State University, Abraka, Delta State, Nigeria.
David G StandaertDepartment of Neurology, University of Alabama at Birmingham, Birmingham, AL, USA.
Abiodun Hamzat BelloUniversity of Ilorin Teaching Hospital, Ilorin, Kwara State, Nigeria.
Marissa N DeanDepartment of Neurology, University of Alabama at Birmingham, Birmingham, AL, USA.
Cyril Oshomah EramehIrrua Specialist Teaching Hospital, Irrua, Edo State, Nigeria.
Inas ElsayedFaculty of Pharmacy, University of Gezira, Wadmadani, Sudan.
Temitope Hannah FarombiUniversity College Hospital, Ibadan, Oyo State, Nigeria.
Olaitan OkunoyeDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
Michael Bimbola FawaleObafemi Awolowo University, Ile-Ife, Osun State, Nigeria.
Kimberley J BillingsleyCenter for Alzheimer's and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA; Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.
Frank Aiwansoba ImarhiagbeUniversity of Benin, Benin City, Edo State, Nigeria.
Pilar Alvarez JerezDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK; Center for Alzheimer's and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
Emmanuel Uzodinma IwuozoBenue State University, Makurdi, Benue State, Nigeria.
Breeana BakerCenter for Alzheimer's and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
Morenikeji Adeyoyin KomolafeObafemi Awolowo University, Ile-Ife, Osun State, Nigeria.
Laksh MalikCenter for Alzheimer's and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
Paul Osemeke NwaniNnamdi Azikiwe University Teaching Hospital, Nnewi, Anambra State, Nigeria.
Kensuke DaidaCenter for Alzheimer's and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA; Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.
Ernest Okwundu NwazorRivers State University Teaching Hospital, Port Harcourt, Rivers State, Nigeria.
Abigail Miano-BurkhardtCenter for Alzheimer's and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA; Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.
Yakub Wilberforce NyandaitiUniversity of Maiduguri Teaching Hospital, Maiduguri, Borno State, Nigeria.
Zih-Hua FangGerman Center for Neurodegenerative Diseases, Tuebingen, Germany.
Yahaya Olugbo ObiaboFederal University of Health Sciences, Otukpo, Benue State, Nigeria.
Jillian H KlussLaboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.
Olanike Adedoyin OdeniyiGeneral Hospital, Lagos Island, Lagos State, Nigeria.
Dena G HernandezLaboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.
Francis Ehidiamen OdiaseUniversity of Benin, Benin City, Edo State, Nigeria.
Nahid TayebiMedical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Francis Ibe OjiniCollege of Medicine, University of Lagos, Idi Araba, Lagos State, Nigeria.
Ellen SidranksyMedical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Gerald Awele OnwuegbuzieUniversity of Abuja, Abuja, Federal Capital Territory, Nigeria.
Andrea M D'SouzaMedical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Godwin Osawaru OsaigbovoJos University Teaching Hospital, Jos, Plateau State, Nigeria.
Bahafta BerheMedical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Nosakhare OsemwegieUniversity of Port Harcourt, Port Harcourt, Rivers State, Nigeria.
Xylena ReedCenter for Alzheimer's and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
Olajumoke Olufemi OshinaikeLagos State University College of Medicine, Ikeja, Lagos State, Nigeria.
Hampton L LeonardCenter for Alzheimer's and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA; Data Tecnica International, Washington, DC, USA.
Folajimi Morenikeji OtubogunFederal Medical Center, Ebute Metta, Lagos State, Nigeria.
Chelsea X AlvaradoCenter for Alzheimer's and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA; Data Tecnica International, Washington, DC, USA.
Shyngle Imiewan OyakhireNational Hospital, Abuja, Federal Capital Territory, Nigeria.
Simon Izuchukwu OzommaUniversity of Calabar Teaching Hospital, Calabar, Cross River State, Nigeria.
Sarah Chabiri SamuelUniversity of Maiduguri Teaching Hospital, Maiduguri, Borno State, Nigeria.
Funmilola Tolulope TaiwoUniversity College Hospital, Ibadan, Oyo State, Nigeria.
Kolawole Wasiu WahabUniversity of Ilorin Teaching Hospital, Ilorin, Kwara State, Nigeria; University of Ilorin, Ilorin, Kwara State, Nigeria.
Yusuf Agboola ZubairNational Hospital, Abuja, Federal Capital Territory, Nigeria.
Hirotaka IwakiCenter for Alzheimer's and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA; Data Tecnica International, Washington, DC, USA.
Jonggeol Jeffrey KimCenter for Alzheimer's and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA; Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.
Huw R MorrisDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
John HardyDepartment of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, UK.
Mike A NallsData Tecnica International, Washington, DC, USA.
Karl Heilbron23andMe, Sunnyvale, CA, USA.
Lucy Norcliffe-Kaufmann23andMe, Sunnyvale, CA, USA.
Nigeria Parkinson Disease Research Network
International Parkinson's Disease Genomics Consortium Africa
Black and African American Connections to Parkinson's Disease Study Group
23andMe Research Team
Cornelis BlauwendraatCenter for Alzheimer's and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA; Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.
Henry HouldenDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
Andrew SingletonCenter for Alzheimer's and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA; Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA. Electronic address: singleta@nih.gov.
Njideka Ulunma OkubadejoCollege of Medicine, University of Lagos, Idi Araba, Lagos State, Nigeria; Lagos University Teaching Hospital, Idi Araba, Lagos State, Nigeria. Electronic address: nokubadejo@unilag.edu.ng.
Global Parkinson's Genetics Program
National Institutes of Health · USNational Hospital for Neurology and Neurosurgery · GBUniversity of Lagos · NGNational Institute of Neurological Disorders and Stroke · USBenue State University · NGUniversity of Chicago · USLagos State University · NGUniversity College Hospital, Ibadan · NGUniversity of Calabar · NGLagos University Teaching Hospital · NGNational Hospital Abuja · NGRush University Medical Center · USUniversity of Alabama at Birmingham · USUniversity of Port Harcourt · NGDelta State University · NGObafemi Awolowo University · NGUniversity of Ilorin Teaching Hospital · NGUniversity of Maiduguri · NG23andMe (United States) · USAhmadu Bello University · NG

Funding

Genome wide SNP analysis in Parkinson's diseaseZIAAG000949 · NIA · NATIONAL INSTITUTE ON AGING · PI SINGLETON, ANDREW · 2009 to 2024
$12.6M
Project 3: LRRK2 mediated macrophage responses in PDP50NS108675 · NINDS · UNIVERSITY OF ALABAMA AT BIRMINGHAM · PI WEST, ANDREW B · 2018 to 2022
$9.9M
Genome wide SNP analysis in Parkinson's diseaseZ01AG000949 · NIA · NATIONAL INSTITUTE ON AGING · PI SINGLETON, ANDREW B · 2006 to 2008
$2.6M
MIDCAREER AWARD IN PATIENT ORIENTED RESEARCH ON AGINGK24AG000949 · NIA · YALE UNIVERSITY · PI INOUYE, SHARON K. · 1999 to 2009
$1.4M
UAB Research Education Program for Residents and Fellows in NeuroscienceR25NS079188 · NINDS · UNIVERSITY OF ALABAMA AT BIRMINGHAM · PI STANDAERT, DAVID G. · 2012 to 2022
$1.1M
Intramural NIH HHS Z01 AG000949Intramural NIH HHS ZIA AG000949NIA NIH HHS K24 AG000949NINDS NIH HHS P50 NS108675NINDS NIH HHS R25 NS079188
6 · The paper itself

Abstract

backgroundAn understanding of the genetic mechanisms underlying diseases in ancestrally diverse populations is an important step towards development of targeted treatments. Research in African and African admixed populations can enable mapping of complex traits, because of their genetic diversity, extensive population substructure, and distinct linkage disequilibrium patterns. We aimed to do a comprehensive genome-wide assessment in African and African admixed individuals to better understand the genetic architecture of Parkinson's disease in these underserved populations.

methodsWe performed a genome-wide association study (GWAS) in people of African and African admixed ancestry with and without Parkinson's disease. Individuals were included from several cohorts that were available as a part of the Global Parkinson's Genetics Program, the International Parkinson's Disease Genomics Consortium Africa, and 23andMe. A diagnosis of Parkinson's disease was confirmed clinically by a movement disorder specialist for every individual in each cohort, except for 23andMe, in which it was self-reported based on clinical diagnosis. We characterised ancestry-specific risk, differential haplotype structure and admixture, coding and structural genetic variation, and enzymatic activity.

findingsWe included 197 918 individuals (1488 cases and 196 430 controls) in our genome-wide analysis. We identified a novel common risk factor for Parkinson's disease (overall meta-analysis odds ratio for risk of Parkinson's disease 1·58 [95% CI 1·37-1·80], p=2·397 × 10

interpretationOur study identified a novel genetic risk factor in GBA1 in people of African ancestry, which has not been seen in European populations, and it could be a major mechanistic basis of Parkinson's disease in African populations. This population-specific variant exerts substantial risk on Parkinson's disease as compared with common variation identified through GWAS and it was found to be present in 39% of the cases assessed in this study. This finding highlights the importance of understanding ancestry-specific genetic risk in complex diseases, a particularly crucial point as the Parkinson's disease field moves towards targeted treatments in clinical trials. The distinctive genetics of African populations highlights the need for equitable inclusion of ancestrally diverse groups in future trials, which will be a valuable step towards gaining insights into novel genetic determinants underlying the causes of Parkinson's disease. This finding opens new avenues towards RNA-based and other therapeutic strategies aimed at reducing lifetime risk of Parkinson's disease.

fundingThe Global Parkinson's Genetics Program, which is funded by the Aligning Science Across Parkinson's initiative, and The Michael J Fox Foundation for Parkinson's Research.

Indexed as

African PeopleParkinson DiseaseBlack PeopleGenetic LociGenetic Predisposition to DiseaseGenome-Wide Association StudyGlucosylceramidaseHumansLinkage DisequilibriumPolymorphism, Single NucleotideGBA protein, humanGlucosylceramidase

Identifiers

PMID37633302
PMCPMC10593199
OpenAlexW4386087061

What Socratic holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

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 Socratic graph.