Evidence map›Paper›PMID 33239198›Full record

ArticleNeurobiology of aging2021

Association study of DNAJC13, UCHL1, HTRA2, GIGYF2, and EIF4G1 with Parkinson's disease.

Prabhjyot Saini, Uladzislau Rudakou, Eric Yu, Jennifer A Ruskey, Farnaz Asayesh, Sandra B Laurent, Dan Spiegelman, Stanley Fahn, Cheryl Waters, Oury Monchi and 10 more

Open access · greenAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Neurobiology of aging, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.

0numbers the graph read from it
0cells of the map it votes in
20citing papers in PubMed
1.7field-weighted citation impact, top 12% 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

20 citing papers in PubMed, 43 citations in OpenAlex.

  1. Article
  2. Article
  3. Review
  4. Article
  5. Article
  6. Article
  7. Article
  8. Parkinson's Disease Gene Screening in Familial Cases from Central and South America.Movement disorders : official journal of the Movement Disorder Society · 2024
    Article
  9. Article
  10. Article
  11. Article
  12. Review
  13. Review
  14. Review
  15. Review
  16. Review
  17. Review
  18. Article
  19. Article
  20. Review
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

20 authors at 7 institutions in 4 countries.

Prabhjyot SainiMontreal Neurological Institute, McGill University, Montréal, Quebec, Canada; Department of Human Genetics, McGill University, Montréal, Quebec, Canada.
Uladzislau RudakouMontreal Neurological Institute, McGill University, Montréal, Quebec, Canada; Department of Human Genetics, McGill University, Montréal, Quebec, Canada.
Eric YuMontreal Neurological Institute, McGill University, Montréal, Quebec, Canada; Department of Human Genetics, McGill University, Montréal, Quebec, Canada.
Jennifer A RuskeyMontreal Neurological Institute, McGill University, Montréal, Quebec, Canada; Department of Neurology and neurosurgery, McGill University, Montréal, Quebec, Canada.
Farnaz AsayeshMontreal Neurological Institute, McGill University, Montréal, Quebec, Canada; Department of Neurology and neurosurgery, McGill University, Montréal, Quebec, Canada.
Sandra B LaurentMontreal Neurological Institute, McGill University, Montréal, Quebec, Canada; Department of Human Genetics, McGill University, Montréal, Quebec, Canada.
Dan SpiegelmanMontreal Neurological Institute, McGill University, Montréal, Quebec, Canada; Department of Neurology and neurosurgery, McGill University, Montréal, Quebec, Canada.
Stanley FahnDepartment of Neurology, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY, USA.
Cheryl WatersDepartment of Neurology, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY, USA.
Oury MonchiDepartment of Clinical Neurosciences and Department of Radiology, University of Calgary, Calgary, Alberta, Canada; Cumming School of Medicine, Hotchkiss Brain Institute, Calgary, Alberta, Canada.
Yves DauvilliersDepartment of Neurology, National Reference Center for Narcolepsy, Sleep Unit, Gui-de-Chauliac Hospital, CHU Montpellier, University of Montpellier, Inserm U1061, Montpellier, France.
Nicolas DupréDivision of Neurosciences, CHU de Québec, Université Laval, Quebec City, Quebec, Canada; Department of Medicine, Faculty of Medicine, Université Laval, Québec, Quebec, Canada.
Lior GreenbaumSackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Israel; The Joseph Sagol Neuroscience Center, Sheba Medical Center, Tel Hashomer, Israel.
Sharon Hassin-BaerSackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; Department of Neurology, The Movement Disorders Institute, Sheba Medical Center, Tel Hashomer, Israel.
Alberto J EspayDepartment of Neurology, Gardner Family Center for Parkinson's Disease and Movement Disorders, University of Cincinnati, Cincinnati, OH, USA.
Guy A RouleauMontreal Neurological Institute, McGill University, Montréal, Quebec, Canada; Department of Human Genetics, McGill University, Montréal, Quebec, Canada; Department of Neurology and neurosurgery, McGill University, Montréal, Quebec, Canada.
Roy N AlcalayDepartment of Neurology, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY, USA; Taub Institute for Research on Alzheimer's Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY, USA.
Edward A FonMontreal Neurological Institute, McGill University, Montréal, Quebec, Canada; Department of Neurology and neurosurgery, McGill University, Montréal, Quebec, Canada.
Ronald B PostumaMontreal Neurological Institute, McGill University, Montréal, Quebec, Canada; Department of Neurology and neurosurgery, McGill University, Montréal, Quebec, Canada.
Ziv Gan-OrMontreal Neurological Institute, McGill University, Montréal, Quebec, Canada; Department of Human Genetics, McGill University, Montréal, Quebec, Canada; Department of Neurology and neurosurgery, McGill University, Montréal, Quebec, Canada. Electronic address: ziv.gan-or@mcgill.ca.
Montreal Neurological Institute and Hospital · CAColumbia University Irving Medical Center · USTel Aviv University · ILInserm · FRUniversité Laval · CAUniversity of Calgary · CAUniversity of Cincinnati · US

Funding

Clinical and Translational Science AwardUL1TR000040 · NCATS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI GINSBERG, HENRY N · 2012 to 2015
$26.2M
The role of glucocerebrosidase in Parkinson's diseaseK02NS080915 · NINDS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI ALCALAY, ROY · 2012 to 2016
$905k
CIHR FDN 154301NCATS NIH HHS UL1 TR000040NINDS NIH HHS K02 NS080915
6 · The paper itself

Abstract

Rare mutations in genes originally discovered in multigenerational families have been associated with increased risk of Parkinson's disease (PD). The involvement of rare variants in DNAJC13, UCHL1, HTRA2, GIGYF2, and EIF4G1 loci has been poorly studied or has produced conflicting results across cohorts. However, they are still being often referred to as "PD genes" and used in different models. To further elucidate the role of these 5 genes in PD, we fully sequenced them using molecular inversion probes in 2408 patients with PD and 3444 controls from 3 different cohorts. A total of 788 rare variants were identified across the 5 genes and 3 cohorts. Burden analyses and optimized sequence Kernel association tests revealed no significant association between any of the genes and PD after correction for multiple comparisons. Our results do not support an association of the 5 tested genes with PD. Combined with previous studies, it is unlikely that any of these genes plays an important role in PD. Their designation as "PARK" genes should be reconsidered.

Indexed as

Carrier ProteinsEukaryotic Initiation Factor-4GHigh-Temperature Requirement A Serine Peptidase 2Molecular ChaperonesNegative ResultsUbiquitin ThiolesteraseCohort StudiesFemaleGenetic Association StudiesHumansMaleParkinson DiseaseWhite PeopleCarrier ProteinsDNAJC13 protein, humanEIF4G1 protein, humanEukaryotic Initiation Factor-4GGIGYF2 protein, humanHigh-Temperature Requirement A Serine Peptidase 2HTRA2 protein, humanMolecular ChaperonesUbiquitin ThiolesteraseUCHL1 protein, humanAshkenazi-JewishDNAJC13EIF4G1French-CanadianGIGYF2HTRA2Parkinson's diseaseSKAT-OUCHL1

Identifiers

PMID33239198
PMCPMC7940813
OpenAlexW3097165486

What OpenQuestion 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 OpenQuestion graph.