Evidence map›Paper›PMID 33020390›Full record

ReviewInternational journal of molecular sciences2020

Genetic Risk Profiling in Parkinson's Disease and Utilizing Genetics to Gain Insight into Disease-Related Biological Pathways.

Ashley Hall, Sara Bandres-Ciga, Monica Diez-Fairen, John P Quinn, Kimberley J Billingsley

Open access · goldAbstract readReview
In one paragraph

Review in International journal of molecular sciences, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.

0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed
3.8field-weighted citation impact, top 6% 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

13 citing papers in PubMed, 31 citations in OpenAlex.

  1. Article
  2. Review
  3. Article
  4. Identifying Alzheimer's disease-related pathways based on whole-genome sequencing data.Computational and structural biotechnology journal · 2025
    Article
  5. Review
  6. LRRK2 and Proteostasis in Parkinson's Disease.International journal of molecular sciences · 2022
    Review
  7. Article
  8. Review
  9. Article
  10. Review
  11. Review
  12. Review
  13. 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

5 authors at 3 institutions in 3 countries.

Ashley HallDepartment of Pharmacology and Therapeutics, Institute of Systems, Molecular & Integrative Biology, University of Liverpool, L69 7BE, UK.ORCID 0000-0003-2962-6384
Sara Bandres-CigaMolecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USA.
Monica Diez-FairenNeurogenetics Group, University Hospital MutuaTerrassa, Sant Antoni 19, 08221 Terrassa, Barcelona, Spain.ORCID 0000-0003-1882-0309
John P QuinnDepartment of Pharmacology and Therapeutics, Institute of Systems, Molecular & Integrative Biology, University of Liverpool, L69 7BE, UK.ORCID 0000-0003-3551-7803
Kimberley J BillingsleyMolecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USA.ORCID 0000-0002-8003-4029
National Institutes of Health · USUniversity of Liverpool · GBUniversity Hospital Mútua de Terrassa · ES

Funding

Wellcome Trust
6 · The paper itself

Abstract

Parkinson's disease (PD) is a complex disorder underpinned by both environmental and genetic factors. The latter only began to be understood around two decades ago, but since then great inroads have rapidly been made into deconvoluting the genetic component of PD. In particular, recent large-scale projects such as genome-wide association (GWA) studies have provided insight into the genetic risk factors associated with genetically ''complex'' PD (PD that cannot readily be attributed to single deleterious mutations). Here, we discuss the plethora of genetic information provided by PD GWA studies and how this may be utilized to generate polygenic risk scores (PRS), which may be used in the prediction of risk and trajectory of PD. We also comment on how pathway-specific genetic profiling can be used to gain insight into PD-related biological pathways, and how this may be further utilized to nominate causal PD genes and potentially druggable therapeutic targets. Finally, we outline the current limits of our understanding of PD genetics and the potential contribution of variation currently uncaptured in genetic studies, focusing here on uncatalogued structural variants.

Indexed as

Genetic Predisposition to DiseaseGenome-Wide Association StudyHumansParkinson DiseasePolymorphism, Single NucleotideRisk FactorsSignal Transductionbiological pathwaysgenetic riskParkinson’s disease

Identifiers

PMID33020390
PMCPMC7584037
OpenAlexW3090507726

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.