Evidence map›Paper›PMID 40475162›Full record

ArticlemedRxiv : the preprint server for health sciences2025

Genome-wide assessment identifies novel runs of homozygosity linked to Parkinson's disease etiology across diverse ancestral populations.

Kathryn Step, Carlos F Hernández, Esraa Eltaraifee, Ana Jimena Hernández-Medrano, Pin-Jui Kung, Miriam Ostrožovičová, Alexandra Zirra, Eduardo Pérez-Palma, Niccolò E Mencacci, Ignacio J Keller Sarmiento and 6 more

Abstract readPreprint
In one paragraph

Article in medRxiv : the preprint server for health sciences, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

16 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 0000-0002-4054-7030
Carlos F HernándezUniversidad del Desarrollo, Centro de Genética y Genómica, Facultad de Medicina Clínica Alemana, Santiago 7610658, Chile.
Esraa EltaraifeeInstitute of Endemic Diseases, University of Khartoum, Khartoum, Sudan.ORCID 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.
Pin-Jui KungGenome and Systems Biology Degree Program, National Taiwan University and Academia Sinica, Taipei, Taiwan.
Miriam OstrožovičováDepartment of Neurology, Faculty of Medicine, Pavol Jozef Šafárik University, 04001 Košice, Slovakia.
Alexandra ZirraCentre for Preventive Neurology, Wolfson Centre, Queen Mary University of London, London, United Kingdom, EC1M 6BQ.ORCID 0000-0003-3901-5456
Eduardo Pérez-PalmaUniversidad del Desarrollo, Centro de Genética y Genómica, Facultad de Medicina Clínica Alemana, Santiago 7610658, Chile.
Niccolò E MencacciDepartment of Neurology, and Simpson Querrey Center for Neurogenetics at Northwestern University Feinberg School of Medicine, Chicago, Illinois 60611, United States.
Ignacio J Keller SarmientoDepartment of Neurology, and Simpson Querrey Center for Neurogenetics at Northwestern University Feinberg School of Medicine, Chicago, Illinois 60611, United States.
Huw R MorrisDepartment of Clinical and Movement Neuroscience at University College London.ORCID 0000-0002-5473-3774
Ignacio F MataGenomic Medicine, Lerner Research Institute, Cleveland Clinic Foundation, Cleveland, OH, United States.ORCID 0000-0003-1198-0633
Global Parkinson’s Genetics Program (GP2)
Juliana Acosta-UribeGrupo de Neurociencias (GNA), Facultad de Medicina, Universidad de Antioquia, Medellín, Colombia.ORCID 0000-0001-9978-093X
Zih-Hua FangGerman Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.
Sara Bandres-CigaGerman Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.

Funding

STRIDESOT2OD027852 · OD · FOUR POINTS TECHNOLOGY, LLC · PI Joel A Lipkin · 2018 to 2026
$255.6M
STRIDES OT2OD027060 · OD · CARAHSOFT TECHNOLOGY CORPORATION · PI Terry Drinkwine · 2018 to 2026
$134.1M
NIH STRIDES - Azure and Associated Services and Training.OT2OD032100 · OD · DELL FEDERAL SYSTEMS L.P. · PI Amy K HammondOdwyer, Erum Siddiqui · 2021 to 2026
$62.2M
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
Modeling the impact of Women's Specific Health Factors in PD outcomes in LatinasR01NS112499 · NINDS · CLEVELAND CLINIC LERNER COM-CWRU · PI FERNANDEZ MATA, IGNACIO · 2020 to 2024
$3.3M
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
Understanding the role of BORCS5 in neuronal lysosomal function and neurodegenerationK08NS131581 · NINDS · NORTHWESTERN UNIVERSITY AT CHICAGO · PI Niccolo E Mencacci · 2024 to 2026
$673k
Intramural NIH HHS Z01 AG000949Intramural NIH HHS ZIA AG000949Intramural NIH HHS ZIA NS003154NIA NIH HHS K24 AG000949NIH HHS OT2 OD027060NIH HHS OT2 OD027852NIH HHS OT2 OD032100NINDS NIH HHS K08 NS131581NINDS NIH HHS R01 NS112499
6 · The paper itself

Abstract

Objective: We conducted the first large-scale, multi-ancestral investigation of Parkinson's disease (PD) to examine the impact of genome-wide homozygosity on disease risk and age at onset. Using genotyping, imputed, and whole-genome sequencing (WGS) data from 16,599 PD cases and 13,585 controls across nine ancestral populations from the Global Parkinson's Genetics Program, we aimed to identify novel regions of homozygosity contributing to PD heritability. Methods: We analyzed runs of homozygosity (ROHs) for total length (S Results: Significant differences in S Interpretation: Our findings suggest that ROH regions contribute to PD heritability in a global context, with a portion attributed to recessive allelic architecture. We developed an open-science framework for unbiased homozygosity mapping. Future studies should use larger, diverse cohorts and WGS data to uncover rare recessive variants linked to PD susceptibility.

Identifiers

PMID40475162
PMCPMC12140525

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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.