Evidence map›Paper›PMID 33150996›Full record

ArticleMovement disorders : official journal of the Movement Disorder Society2021

Genome-Wide Analysis of Copy Number Variation in Latin American Parkinson's Disease Patients.

Elif Irem Sarihan, Eduardo Pérez-Palma, Lisa-Marie Niestroj, Douglas Loesch, Miguel Inca-Martinez, Andrea R V R Horimoto, Mario Cornejo-Olivas, Luis Torres, Pilar Mazzetti, Carlos Cosentino and 27 more

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In one paragraph

Article in Movement disorders : official journal of the Movement Disorder Society, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
16citing papers in PubMed, 2 pooled it
5.4field-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

16 citing papers in PubMed, 2 syntheses or guidelines pooled it, 40 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Article
  4. Article
  5. Early-Onset Parkinson's Disease: Unique Features and Management Approaches.Current neurology and neuroscience reports · 2025
    Review
  6. Article
  7. Genome-wide association study of copy number variations in Parkinson's disease.medRxiv : the preprint server for health sciences · 2025
    Article
  8. Article
  9. Parkinson's Disease Gene Screening in Familial Cases from Central and South America.Movement disorders : official journal of the Movement Disorder Society · 2024
    Article
  10. Article
  11. Review
  12. Article
  13. Article
  14. Article
  15. Article
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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

37 authors at 19 institutions in 7 countries.

Elif Irem SarihanLerner Research Institute, Genomic Medicine, Cleveland Clinic, Cleveland, Ohio, USA.
Eduardo Pérez-PalmaLerner Research Institute, Genomic Medicine, Cleveland Clinic, Cleveland, Ohio, USA.ORCID 0000-0003-0546-5141
Lisa-Marie NiestrojCologne Center for Genomics, University of Cologne, Cologne, Germany.
Douglas LoeschInstitute for Genome Sciences, University of Maryland School of Medicine, Baltimore, Maryland, USA.
Miguel Inca-MartinezLerner Research Institute, Genomic Medicine, Cleveland Clinic, Cleveland, Ohio, USA.
Andrea R V R HorimotoDivision of Medical Genetics, Department of Medicine, University of Washington, Seattle, Washington, USA.
Mario Cornejo-OlivasNeurogenetics Research Center, Instituto Nacional de Ciencias Neurologicas, Lima, Peru.
Luis TorresMovement Disorders Unit, Instituto Nacional de Ciencias Neurologicas, Lima, Peru.
Pilar MazzettiNeurogenetics Research Center, Instituto Nacional de Ciencias Neurologicas, Lima, Peru.
Carlos CosentinoMovement Disorders Unit, Instituto Nacional de Ciencias Neurologicas, Lima, Peru.ORCID 0000-0003-3677-9856
Elison Sarapura-CastroNeurogenetics Research Center, Instituto Nacional de Ciencias Neurologicas, Lima, Peru.
Andrea Rivera-ValdiviaNeurogenetics Research Center, Instituto Nacional de Ciencias Neurologicas, Lima, Peru.
Elena DieguezNeurology Institute, Universidad de la República, Montevideo, Uruguay.
Victor RaggioDepartment of Genetics, Facultad de Medicina, Universidad de la República, Montevideo, Uruguay.
Andres LescanoNeurology Institute, Universidad de la República, Montevideo, Uruguay.
Vitor TumasRibeirão Preto Medical School, Universidade de São Paulo, Ribeirão Preto, Brazil.
Vanderci BorgesMovement Disorders Unit, Department of Neurology and Neurosurgery, Universidade Federal de São Paulo, São Paulo, Brazil.
Henrique B FerrazMovement Disorders Unit, Department of Neurology and Neurosurgery, Universidade Federal de São Paulo, São Paulo, Brazil.ORCID 0000-0002-3821-1407
Carlos R RiederDepartamento de Neurologia, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Brazil.
Artur F Schumacher-SchuhServiço de Neurologia, Hospital de Clínicas de Porto Alegre and Departamento de Farmacologia, Universidade Federal do Rio Grande do Su, Porto Alegre, Brazil.
Bruno L Santos-LobatoInstituto de Ciências da Saúde, Universidade Federal do Pará, Belém, Brazil.
Carlos Velez-PardoNeuroscience Research Group, Medical Research Institute, Faculty of Medicine, Universidad de Antioquia (UdeA), Medellín, Colombia.
Marlene Jimenez-Del-RioNeuroscience Research Group, Medical Research Institute, Faculty of Medicine, Universidad de Antioquia (UdeA), Medellín, Colombia.
Francisco LoperaNeuroscience Research Group, Medical Research Institute, Faculty of Medicine, Universidad de Antioquia (UdeA), Medellín, Colombia.
Sonia MorenoNeuroscience Research Group, Medical Research Institute, Faculty of Medicine, Universidad de Antioquia (UdeA), Medellín, Colombia.
Pedro Chana-CuevasCETRAM, Facultad de Ciencias Medicas, Universidad de Santiago de Chile, Santiago de Chile, Chile.
William FernandezNeuroscience and Cell Death Research Groups, Medical School and Genetic Institute, Universidad Nacional de Colombia, Bogotá, Colombia.
Gonzalo ArboledaNeuroscience and Cell Death Research Groups, Medical School and Genetic Institute, Universidad Nacional de Colombia, Bogotá, Colombia.
Humberto ArboledaNeuroscience and Cell Death Research Groups, Medical School and Genetic Institute, Universidad Nacional de Colombia, Bogotá, Colombia.
Carlos E Arboleda-BustosNeuroscience and Cell Death Research Groups, Medical School and Genetic Institute, Universidad Nacional de Colombia, Bogotá, Colombia.
Dora YearoutVeterans Affairs Puget Sound Health Care System, Seattle, Washington, USA.
Cyrus P ZabetianVeterans Affairs Puget Sound Health Care System, Seattle, Washington, USA.ORCID 0000-0002-7739-4306
Timothy A ThorntonDepartment of Biostatistics, University of Washington, Seattle, Washington, USA.
Timothy D O'ConnorInstitute for Genome Sciences, University of Maryland School of Medicine, Baltimore, Maryland, USA.
Dennis LalLerner Research Institute, Genomic Medicine, Cleveland Clinic, Cleveland, Ohio, USA.
Ignacio F MataLerner Research Institute, Genomic Medicine, Cleveland Clinic, Cleveland, Ohio, USA.ORCID 0000-0003-1198-0633
Latin American Research Consortium on the Genetics of Parkinson's Disease (LARGE-PD)‡
Universidad de Antioquia · COUniversidad Nacional de Colombia · COCleveland Clinic Lerner College of Medicine · USNational University of San Marcos · PEUniversidad de la República de Uruguay · UYUniversity of Washington · USInstituto Nacional de Ciencias NeurológicasUniversidade Federal de São Paulo · BRUniversity of Maryland, Baltimore · USBroad Institute · USUniversidad de Santiago de Chile · CLUniversidade de Ribeirão Preto · BRUniversidade Federal de Ciências da Saúde de Porto Alegre · BRUniversidade Federal do Pará · BRUniversidade Federal do Rio Grande · BRUniversidad Peruana Cayetano Heredia · PEUniversity of Cologne · DEUniversity of Puget Sound · USUniversity of Washington Medical Center · US

Funding

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
Rapid Evolution of Genomic Architecture and Multi-omics TraitsR35HG010692 · NHGRI · UNIVERSITY OF MARYLAND BALTIMORE · PI O'CONNOR, TIMOTHY DAVID · 2019 to 2023
$2.3M
NHGRI NIH HHS R35 HG010692NINDS NIH HHS R01 NS112499
6 · The paper itself

Abstract

backgroundParkinson's disease is the second most common neurodegenerative disorder and affects people from all ethnic backgrounds, yet little is known about the genetics of Parkinson's disease in non-European populations. In addition, the overall identification of copy number variants at a genome-wide level has been understudied in Parkinson's patients. The objective of this study was to understand the genome-wide burden of copy number variants in Latinos and its association with Parkinson's disease.

methodsWe used genome-wide genotyping data from 747 Parkinson's disease patients and 632 controls from the Latin American Research Consortium on the Genetics of Parkinson's disease.

resultsGenome-wide copy number burden analysis showed that patients were significantly enriched for copy number variants overlapping known Parkinson's disease genes compared with controls (odds ratio, 3.97; 95%CI, 1.69-10.5; P = 0.018). PRKN showed the strongest copy number burden, with 20 copy number variant carriers. These patients presented an earlier age of disease onset compared with patients with other copy number variants (median age at onset, 31 vs 57 years, respectively; P = 7.46 × 10

conclusionsWe found that although overall genome-wide copy number variant burden was not significantly different, Parkinson's disease patients were significantly enriched with copy number variants affecting known Parkinson's disease genes. We also identified that of 250 patients with early-onset disease, 5.6% carried a copy number variant on PRKN in our cohort. Our study is the first to analyze genome-wide copy number variant association in Latino Parkinson's disease patients and provides insights about this complex disease in this understudied population. © 2020 International Parkinson and Movement Disorder Society.

Indexed as

Parkinson DiseaseAge of OnsetDNA Copy Number VariationsGenome-Wide Association StudyHispanic or LatinoHumansLatin AmericaMiddle Agedcopy number variantsgeneticsLatin AmericaParkinson's disease

Identifiers

PMID33150996
PMCPMC8059262
OpenAlexW3096366881

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