Evidence map›Paper›PMID 40301370›Full record

ArticleNPJ Parkinson's disease2025

LRRK2 rare-variant per-domain genetic burden in Parkinson's Disease: association confined to the kinase domain.

Sitki Cem Parlar, Konstantin Senkevich, Eric Yu, Jennifer A Ruskey, Jamil Ahmad, Farnaz Asayesh, Dan Spiegelman, Cheryl Waters, Oury Monchi, Yves Dauvilliers and 11 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in NPJ Parkinson's disease, 2025. 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

21 authors.

Sitki Cem ParlarDepartment of Human Genetics, McGill University, Montréal, QC, Canada.
Konstantin SenkevichThe Neuro (Montreal Neurological Institute-Hospital), McGill University, Montréal, QC, Canada.
Eric YuDepartment of Human Genetics, McGill University, Montréal, QC, Canada.
Jennifer A RuskeyThe Neuro (Montreal Neurological Institute-Hospital), McGill University, Montréal, QC, Canada.
Jamil AhmadThe Neuro (Montreal Neurological Institute-Hospital), McGill University, Montréal, QC, Canada.
Farnaz AsayeshDepartment of Human Genetics, McGill University, Montréal, QC, Canada.
Dan SpiegelmanThe Neuro (Montreal Neurological Institute-Hospital), McGill University, Montréal, QC, Canada.
Cheryl WatersDepartment of Neurology, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY, USA.
Oury MonchiDepartment of Neurology and Neurosurgery, McGill University, Montréal, QC, Canada.
Yves DauvilliersNational Reference Center for Narcolepsy, Sleep Unit, Department of Neurology, Gui-de-Chauliac Hospital, CHU Montpellier, University of Montpellier, Montpellier, France.
Nicolas DupréDivision of Neurosciences, CHU de Québec, Université Laval, Quebec City, QC, Canada.
Lior GreenbaumThe Danek Gertner Institute of Human Genetics, Sheba Medical Center, Ramat Gan, Israel.
Sharon Hassin-BaerFaculty of Medicine, Tel Aviv University, Tel Aviv-Yafo, Israel.
Irina MiliukhinaInstitute of the Human Brain of RAS, Saint Petersburg, Russia.
Alla TimofeevaFirst Pavlov State Medical University of St. Petersburg, Saint Petersburg, Russia.
Anton EmelyanovFirst Pavlov State Medical University of St. Petersburg, Saint Petersburg, Russia.
Sofya PchelinaFirst Pavlov State Medical University of St. Petersburg, Saint Petersburg, Russia.
Roy N AlcalayDepartment of Neurology, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY, USA.
Edward A FonThe Neuro (Montreal Neurological Institute-Hospital), McGill University, Montréal, QC, Canada.
Jean-François TrempeDepartment of Pharmacology & Therapeutics and Centre de Recherche en Biologie Structurale, McGill University, Montréal, QC, Canada.
Ziv Gan-OrDepartment of Human Genetics, McGill University, Montréal, QC, Canada. ziv.gan-or@mcgill.ca.

Funding

Clinical and Translational Science AwardUL1TR000040 · NCATS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI GINSBERG, HENRY N · 2012 to 2015
$26.2M
Genetic characterization of atypical parkinsonismZIANS003154 · NINDS · NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE · PI SCHOLZ, SONJA · 2016 to 2025
$15.4M
The role of glucocerebrosidase in Parkinson's diseaseK02NS080915 · NINDS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI ALCALAY, ROY · 2012 to 2016
$905k
Genome sequencing of Lewy Body Dementia and Frontotemporal Dementia: a public resource for the study of Alzheimers disease and related dementiasZIAAG000935 · NIA · NATIONAL INSTITUTE ON AGING · PI TRAYNOR, BRYAN · 2017 to 2025
$771k
Intramural NIH HHS ZIA AG000935Intramural NIH HHS ZIA NS003154NCATS NIH HHS UL1 TR000040NINDS NIH HHS K02 NS080915
6 · The paper itself

Abstract

LRRK2 variants are key genetic risk factors for Parkinson's Disease (PD). We conducted a per-domain rare coding variant burden analysis, including 8,888 PD cases and 69,412 controls. In meta-analysis, the Kinase domain was strongly associated with PD (Exonic: P

Identifiers

PMID40301370
PMCPMC12041573

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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.