Evidence map›Paper›PMID 33901317›Full record

ArticleAnnals of neurology2021

Investigation of Autosomal Genetic Sex Differences in Parkinson's Disease.

Cornelis Blauwendraat, Hirotaka Iwaki, Mary B Makarious, Sara Bandres-Ciga, Hampton L Leonard, Francis P Grenn, Julie Lake, Lynne Krohn, Manuela Tan, Jonggeol J Kim and 28 more

Open access · hybridAbstract read
In one paragraph

Article in Annals of neurology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
38citing papers in PubMed, 2 pooled it
4.7field-weighted citation impact, top 4% 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

38 citing papers in PubMed, 2 syntheses or guidelines pooled it, 59 citations in OpenAlex.

  1. Pooled it
  2. Investigation of Shared Genetic Risk Factors Between Parkinson's Disease and Cancers.Movement disorders : official journal of the Movement Disorder Society · 2023
    Pooled it
  3. Article
  4. Article
  5. Sex-biased Genetic Risk Loci and Causal Brain Proteins in Parkinson's Disease.medRxiv : the preprint server for health sciences · 2026
    Article
  6. Article
  7. Differentiating between the impact of sex and gender in Parkinson's disease: utilising these to advance current understanding and care practices.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026
    Review
  8. Sex and gender-related differences in neurological diseases: current challenges and recommendations for clinical practice.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026
    Review
  9. Article
  10. Review
  11. Repurposing dipeptidyl peptidase-4 inhibitor for Parkinson's disease prevention: A drug-target Mendelian randomization study.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2026
    Article
  12. Article
  13. Review
  14. Article
  15. Review
  16. Article
  17. Article
  18. Article
  19. Common genetic risk for Parkinson's disease and dysfunction of the endo-lysosomal system.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2024
    Review
  20. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

38 authors at 12 institutions in 8 countries.

Cornelis BlauwendraatLaboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD.ORCID 0000-0001-9358-8111
Hirotaka IwakiLaboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD.ORCID 0000-0002-8982-7885
Mary B MakariousLaboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD.
Sara Bandres-CigaLaboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD.
Hampton L LeonardLaboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD.
Francis P GrennLaboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD.
Julie LakeLaboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD.
Lynne KrohnDepartment of Human Genetics, McGill University, Montreal, QC, Canada.ORCID 0000-0001-6554-1666
Manuela TanDepartment of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK.
Jonggeol J KimLaboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD.
Jesse R GibbsLaboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD.
Dena G HernandezLaboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD.
Jennifer A RuskeyDepartment of Human Genetics, McGill University, Montreal, QC, Canada.
Lasse PihlstrømDepartment of Neurology, Oslo University Hospital, Oslo, Norway.ORCID 0000-0002-7635-8645
Mathias ToftDepartment of Neurology, Oslo University Hospital, Oslo, Norway.ORCID 0000-0002-6723-6865
Jacobus J van HiltenDepartment of Neurology, Leiden University Medical Center, Leiden, The Netherlands.
Johan MarinusDepartment of Neurology, Leiden University Medical Center, Leiden, The Netherlands.
Claudia SchulteHertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
Kathrin BrockmannHertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.ORCID 0000-0002-7515-8596
Manu SharmaCentre for Genetic Epidemiology, Institute for Clinical Epidemiology and Applied Biometry, University of Tubingen, Tubingen, Germany.ORCID 0000-0002-1260-5416
Ari SiitonenResearch Unit of Clinical Neuroscience, University of Oulu, Oulu, Finland.
Kari MajamaaResearch Unit of Clinical Neuroscience, University of Oulu, Oulu, Finland.
Johanna Eerola-RautioDepartment of Neurology, Helsinki University Hospital, and Molecular Neurology, Research Programs Unit, Biomedicum, University of Helsinki, Helsinki, Finland.
Pentti J TienariDepartment of Neurology, Helsinki University Hospital, and Molecular Neurology, Research Programs Unit, Biomedicum, University of Helsinki, Helsinki, Finland.
Donald G GrossetDepartment of Neurology, Institute of Neurological Sciences, Queen Elizabeth University Hospital, Glasgow, Scotland, UK.
Suzanne LesageDepartment of Neurology and Genetics, Sorbonne Université, Paris Brain Institute - Institut du Cerveau - ICM, Assistance Publique Hôpitaux de Paris, Inserm, CNRS, Paris, France.
Jean-Christophe CorvolDepartment of Neurology and Genetics, Sorbonne Université, Paris Brain Institute - Institut du Cerveau - ICM, Assistance Publique Hôpitaux de Paris, Inserm, CNRS, Paris, France.
Alexis BriceDepartment of Neurology and Genetics, Sorbonne Université, Paris Brain Institute - Institut du Cerveau - ICM, Assistance Publique Hôpitaux de Paris, Inserm, CNRS, Paris, France.
Nick WoodDepartment of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK.
John HardyDepartment of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK.
Ziv Gan-OrDepartment of Human Genetics, McGill University, Montreal, QC, Canada.ORCID 0000-0003-0332-234X
Peter HeutinkHertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
Thomas GasserHertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
Huw R MorrisDepartment of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK.
Alastair J NoyceDepartment of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK.ORCID 0000-0003-3027-5497
Mike A NallsLaboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD.
Andrew B SingletonLaboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD.
International Parkinson's Disease Genomics Consortium (IPDGC)
National Institutes of Health · USGerman Center for Neurodegenerative Diseases · DECentre National de la Recherche Scientifique · FRMontreal Neurological Institute and Hospital · CANational Hospital for Neurology and Neurosurgery · GBOslo University Hospital · NOLeiden University Medical Center · NLOulu University Hospital · FIUniversity of Helsinki · FIQueen Elizabeth University Hospital · GBQueen Mary University of London · GBUniversity of Tübingen · DE

Funding

Genetic characterization of atypical parkinsonismZIANS003154 · NINDS · NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE · PI SCHOLZ, SONJA · 2016 to 2025
$15.4M
Genome wide SNP analysis in Parkinson's diseaseZIAAG000949 · NIA · NATIONAL INSTITUTE ON AGING · PI SINGLETON, ANDREW · 2009 to 2024
$12.6M
PARKINSON DISEASE COLLABORATIVE STUDY OF GENETIC LINKAGER01NS037167 · NINDS · INDIANA UNIV-PURDUE UNIV AT INDIANAPOLIS · PI FOROUD, TATIANA M. · 1998 to 2010
$11.7M
Genetic analysis in families with neurological diseaseZIAAG000958 · NIA · NATIONAL INSTITUTE ON AGING · PI SINGLETON, ANDREW · 2009 to 2024
$10.9M
Vitamin D Concentration, Genetic Modifiers, and Parkinson DiseaseP50NS071674 · NINDS · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI DYKXHOORN, DEREK MICHAEL · 2010 to 2015
$10.2M
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
Prospective studies on Parkinson's diseaseZ01ES101986 · NIEHS · NATIONAL INSTITUTE OF ENVIRONMENTAL HEALTH SCIENCES · PI CHEN, HONGLEI · 2006 to 2008
$1.2M
PD GWAS ConsortiumR01CA141668 · NCI · INDIANA UNIVERSITY INDIANAPOLIS · PI FOROUD, TATIANA M. · 2009 to 2010
$484k
American Parkinson Disease Association (APDA)Barnes Jewish Hospital Foundation; Greater St Louis Chapter of the APDADepartment of Defense W81XWH-09-2-0128German Federal Ministry of Education and Research 01ED1406German Federal Ministry of Education and Research 031A430AIntramural NIH HHS Z01 AG000949Intramural NIH HHS Z01 ES101986Medical Research Council G0700943Medical Research Council G0701075Medical Research Council G0901254Medical Research Council G1001253Medical Research Council G1100643Medical Research Council MR/J004758/1Medical Research Council MR/K01417X/1Medical Research Council MR/L501542/1Medical Research Council MR/N026004/1National Institute of Neurological Disorders and Stroke (NINDS)National Institute on Aging (NIA)National Institutes of Health, Department of Health and Human Services 1ZIA-NS003154National Institutes of Health, Department of Health and Human Services Z01-AG000949-02National Institutes of Health, Department of Health and Human Services Z01-ES101986NCI NIH HHS R01 CA141668NIA NIH HHS K24 AG000949NIEHS NIH HHSNIH HHS P50NS071674NIH HHS R01CA141668NIH HHS R01NS037167NINDS NIH HHS P50 NS071674NINDS NIH HHS R01 NS037167Parkinson's UK 8047Parkinson's UK G-0907Parkinson's UK G-1307Parkinson's UK J-0804Wellcome TrustWellcome Trust 076113Wellcome Trust 085475Wellcome Trust 090355
6 · The paper itself

Abstract

objectiveParkinson's disease (PD) is a complex neurodegenerative disorder. Men are on average ~ 1.5 times more likely to develop PD compared to women with European ancestry. Over the years, genomewide association studies (GWAS) have identified numerous genetic risk factors for PD, however, it is unclear whether genetics contribute to disease etiology in a sex-specific manner.

methodsIn an effort to study sex-specific genetic factors associated with PD, we explored 2 large genetic datasets from the International Parkinson's Disease Genomics Consortium and the UK Biobank consisting of 13,020 male PD cases, 7,936 paternal proxy cases, 89,660 male controls, 7,947 female PD cases, 5,473 maternal proxy cases, and 90,662 female controls. We performed GWAS meta-analyses to identify distinct patterns of genetic risk contributing to disease in male versus female PD cases.

resultsIn total, 19 genomewide significant regions were identified and no sex-specific effects were observed. A high genetic correlation between the male and female PD GWAS were identified (rg = 0.877) and heritability estimates were identical between male and female PD cases (~ 20%).

interpretationWe did not detect any significant genetic differences between male or female PD cases. Our study does not support the notion that common genetic variation on the autosomes could explain the difference in prevalence of PD between males and females cases at least when considering the current sample size under study. Further studies are warranted to investigate the genetic architecture of PD explained by X and Y chromosomes and further evaluate environmental effects that could potentially contribute to PD etiology in male versus female patients. ANN NEUROL 2021;90:41-48.

Indexed as

Genetic Predisposition to DiseaseGenotypeSex CharacteristicsAgedFemaleGenome-Wide Association StudyHumansMaleMiddle AgedParkinson Disease

Identifiers

PMID33901317
PMCPMC8422907
OpenAlexW3132398958

What OpenQuestion holds

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Registered trials

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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.