Evidence map›Paper›PMID 38732020›Full record

ReviewInternational journal of molecular sciences2024

The Role of Structural Variants in the Genetic Architecture of Parkinson's Disease.

Abigail Miano-Burkhardt, Pilar Alvarez Jerez, Kensuke Daida, Sara Bandres Ciga, Kimberley J Billingsley

Abstract readReview
In one paragraph

Review in International journal of molecular sciences, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing 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

5 citing papers in PubMed.

  1. Long-read sequencing for neurological disorders: opportunities, challenges, and future directions.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026
    Review
  2. Article
  3. Article
  4. Article
  5. Genome-wide association study of copy number variations in Parkinson's disease.medRxiv : the preprint server for health sciences · 2025
    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

5 authors.

Abigail Miano-BurkhardtLaboratory of Neurogenetics, National Institute on Aging, Bethesda, MD 20892, USA.ORCID 0000-0002-0447-4698
Pilar Alvarez JerezCenter for Alzheimer's and Related Dementias, National Institute on Aging, Bethesda, MD 20892, USA.
Kensuke DaidaLaboratory of Neurogenetics, National Institute on Aging, Bethesda, MD 20892, USA.ORCID 0000-0002-9177-9587
Sara Bandres CigaCenter for Alzheimer's and Related Dementias, National Institute on Aging, Bethesda, MD 20892, USA.
Kimberley J BillingsleyLaboratory of Neurogenetics, National Institute on Aging, Bethesda, MD 20892, USA.ORCID 0000-0002-8003-4029

Funding

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 diseaseZ01AG000949 · NIA · NATIONAL INSTITUTE ON AGING · PI SINGLETON, ANDREW B · 2006 to 2008
$2.6M
Prospective studies on Parkinson's diseaseZ01ES101986 · NIEHS · NATIONAL INSTITUTE OF ENVIRONMENTAL HEALTH SCIENCES · PI CHEN, HONGLEI · 2006 to 2008
$1.2M
Intramural NIH HHS Z01 AG000949Intramural NIH HHS Z01 ES101986Intramural NIH HHS ZIA NS003154
6 · The paper itself

Abstract

Parkinson's disease (PD) significantly impacts millions of individuals worldwide. Although our understanding of the genetic foundations of PD has advanced, a substantial portion of the genetic variation contributing to disease risk remains unknown. Current PD genetic studies have primarily focused on one form of genetic variation, single nucleotide variants (SNVs), while other important forms of genetic variation, such as structural variants (SVs), are mostly ignored due to the complexity of detecting these variants with traditional sequencing methods. Yet, these forms of genetic variation play crucial roles in gene expression and regulation in the human brain and are causative of numerous neurological disorders, including forms of PD. This review aims to provide a comprehensive overview of our current understanding of the involvement of coding and noncoding SVs in the genetic architecture of PD.

Indexed as

Genetic Predisposition to DiseaseParkinson DiseasePolymorphism, Single NucleotideGenetic VariationGenome-Wide Association StudyHumansgeneticslong-read sequencingParkinson’s diseasestructural variants

Identifiers

PMID38732020
PMCPMC11084710

What OpenQuestion holds

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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.