Evidence map›Paper›PMID 41808632›Full record

ArticleMovement disorders : official journal of the Movement Disorder Society2026

Genome-Wide Assessment Reveals Ancestral Differences in Homozygosity Patterns Potentially Linked to Parkinson's Disease Etiology.

Kathryn Step, Carlos F Hernández, Marzieh Khani, Esraa Eltaraifee, Ana Jimena Hernández-Medrano, Pin-Jui Kung, Miriam Ostrožovičová, Alexandra Zirra, Eduardo Pérez-Palma, Niccolò E Mencacci and 7 more

Abstract read
In one paragraph

Article in Movement disorders : official journal of the Movement Disorder Society, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
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

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

17 authors.

Kathryn StepDivision of Molecular Biology and Human Genetics, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa.ORCID https://orcid.org/0000-0002-4054-7030
Carlos F HernándezUniversidad del Desarrollo, Centro de Genética y Genómica, Facultad de Medicina Clínica Alemana, Santiago, Chile.ORCID https://orcid.org/0000-0002-6412-3777
Marzieh KhaniCenter for Alzheimer's and Related Dementias (CARD), National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.ORCID https://orcid.org/0000-0003-0649-6644
Esraa EltaraifeeInstitute of Endemic Diseases, University of Khartoum, Khartoum, Sudan.ORCID https://orcid.org/0009-0004-0339-6749
Ana Jimena Hernández-MedranoLaboratorio Clínico de Enfermedades Neurodegenerativas, Instituto Nacional de Neurología y Neurocirugía Manuel Velasco Suárez, Ciudad de México, Mexico.ORCID https://orcid.org/0000-0002-3220-9277
Pin-Jui KungGenome and Systems Biology Degree Program, National Taiwan University and Academia Sinica, Taipei, Taiwan.ORCID https://orcid.org/0000-0001-8369-0227
Miriam OstrožovičováDepartment of Neurology, Faculty of Medicine, Pavol Jozef Šafárik University, Košice, Slovakia.ORCID https://orcid.org/0000-0003-1519-1535
Alexandra ZirraDepartment of Neuromuscular Diseases Queen Square Institute of Neurology, University College London, London, UK.ORCID https://orcid.org/0000-0003-3901-5456
Eduardo Pérez-PalmaUniversidad del Desarrollo, Centro de Genética y Genómica, Facultad de Medicina Clínica Alemana, Santiago, Chile.ORCID https://orcid.org/0000-0003-0546-5141
Niccolò E MencacciDepartment of Neurology, and Simpson Querrey Center for Neurogenetics, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.ORCID https://orcid.org/0000-0003-3383-9665
Ignacio J Keller SarmientoDepartment of Neurology, and Simpson Querrey Center for Neurogenetics, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.ORCID https://orcid.org/0000-0003-0979-6001
Huw R MorrisDepartment of Clinical and Movement Neuroscience, University College London, London, UK.ORCID https://orcid.org/0000-0002-5473-3774
Ignacio F MataGenomic Sciences and Systems Biology, Cleveland Clinic Research, Cleveland Clinic Foundation, Cleveland, Ohio, USA.ORCID https://orcid.org/0000-0003-1198-0633
Juliana Acosta-UribeGrupo de Neurociencias (GNA), Facultad de Medicina, Universidad de Antioquia, Medellín, Colombia.ORCID https://orcid.org/0000-0001-9978-093X
Zih-Hua FangGerman Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.ORCID https://orcid.org/0000-0002-0225-8772
Sara Bandres-CigaCenter for Alzheimer's and Related Dementias (CARD), National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.ORCID https://orcid.org/0000-0003-0056-1361
Global Parkinson's Genetics Program (GP2)

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
Micheal J. Fox Foundation for Parkinson's Disease MJFF-009421/17483NHGRI NIH HHSNIA NIH HHS ZIA AG000949NIA NIH HHS ZO1 AG000535NINDS NIH HHS ZIANS003154
6 · The paper itself

Abstract

backgroundRecessive genetic variation and extended runs of homozygosity (ROHs) may contribute to the unexplained heritability of Parkinson's disease (PD), particularly in diverse and understudied populations.

objectiveWe conducted the first large-scale, multi-ancestral investigation of PD to examine the impact of genome-wide homozygosity on disease risk and age at onset (AAO). Using genotyping, imputed, and whole-genome sequencing data from 36,127 PD cases and 19,475 controls across nine ancestral populations from the Global Parkinson's Genetics Program, we aimed to identify novel regions of homozygosity contributing to PD heritability.

methodsWe analyzed ROHs for total length (SROH), number (NROH), average length (AVROH), and genomic inbreeding coefficient (FROH). ROHs were intersected with known PD, pallido-pyramidal syndrome, and atypical parkinsonism gene regions and risk loci to assess pleomorphic or pleiotropic contributions. Homozygosity mapping identified ROH overlaps in families, consanguineous individuals, and early-onset PD (EOPD) cases.

resultsSignificant differences in SROH, AVROH, NROH, and FROH were observed between case status across ancestries, persisting after excluding known PD-associated recessive genes. Our analysis revealed distinct patterns of ROH enrichment associated with AAO, suggesting recessive genetic modifiers of PD. Homozygosity mapping was used to prioritize 52 variants either segregating in families or present in individuals with consanguinity. In total, 1,559 ROHs in consanguineous individuals and EOPD overlapped known PD gene regions and risk loci.

conclusionsROH regions contribute to PD heritability across ancestries, partly reflecting recessive genetic architecture. Larger and more diverse whole-genome sequencing studies are needed to identify rare recessive variants influencing PD risk. © 2026 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society. This article has been contributed to by U.S. Government employees and their work is in the public domain in the USA.

Indexed as

Genetic Predisposition to DiseaseHomozygoteParkinson DiseaseAge of OnsetFemaleGenome-Wide Association StudyHumansMaleMiddle Agedgenome‐wide homozygosityglobal Parkinson's Genetics Program (GP2)multi‐ancestral analysisparkinson's diseaseruns of homozygosity

Identifiers

PMID41808632
PMCPMC13206428

What OpenQuestion holds

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LicenceCC BY-NC-ND
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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 OpenQuestion graph.