Evidence map›Paper›PMID 38540776›Full record

ArticleBiomolecules2024

Exploring SVA Insertion Polymorphisms in Shaping Differential Gene Expressions in the Central Nervous System.

Lauren S Hughes, Alexander Fröhlich, Abigail L Pfaff, Vivien J Bubb, John P Quinn, Sulev Kõks

Open access · goldAbstract read
In one paragraph

Article in Biomolecules, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
2.2field-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

4 citing papers in PubMed, 6 citations in OpenAlex.

  1. Review
  2. Article
  3. Article
  4. 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

6 authors at 3 institutions in 2 countries.

Lauren S HughesPerron Institute for Neurological and Translational Science, Perth, WA 6009, Australia.
Alexander FröhlichPerron Institute for Neurological and Translational Science, Perth, WA 6009, Australia.
Abigail L PfaffPerron Institute for Neurological and Translational Science, Perth, WA 6009, Australia.
Vivien J BubbDepartment of Pharmacology and Therapeutics, Institute of Systems, Molecular and Integrative Biology, University of Liverpool, Liverpool L69 3BX, UK.ORCID 0000-0003-2763-7004
John P QuinnDepartment of Pharmacology and Therapeutics, Institute of Systems, Molecular and Integrative Biology, University of Liverpool, Liverpool L69 3BX, UK.ORCID 0000-0003-3551-7803
Sulev KõksPerron Institute for Neurological and Translational Science, Perth, WA 6009, Australia.
University of Liverpool · GBMurdoch University · AUPerron Institute for Neurological and Translational Science · AU

Funding

Andrzej Wlodarski Memorial Research Fund 1234Multiple Sclerosis Western Australia 1234
6 · The paper itself

Abstract

Transposable elements (TEs) are repetitive elements which make up around 45% of the human genome. A class of TEs, known as SINE-VNTR-Alu (SVA), demonstrate the capacity to mobilise throughout the genome, resulting in SVA polymorphisms for their presence or absence within the population. Although studies have previously highlighted the involvement of TEs within neurodegenerative diseases, such as Parkinson's disease and amyotrophic lateral sclerosis (ALS), the exact mechanism has yet to be identified. In this study, we used whole-genome sequencing and RNA sequencing data of ALS patients and healthy controls from the New York Genome Centre ALS Consortium to elucidate the influence of reference SVA elements on gene expressions genome-wide within central nervous system (CNS) tissues. To investigate this, we applied a matrix expression quantitative trait loci analysis and demonstrate that reference SVA insertion polymorphisms can significantly modulate the expression of numerous genes, preferentially in the

Indexed as

Amyotrophic Lateral SclerosisRetroelementsCentral Nervous SystemDNA Transposable ElementsGene ExpressionHumansMinisatellite RepeatsDNA Transposable ElementsRetroelementsamyotrophic lateral sclerosisexpression quantitative trait locigene expression regulationHLAMAPTRNA-seqSINE-VNTR-Alutransposable elementwhole-genome sequencing

Identifiers

PMID38540776
PMCPMC10967846
OpenAlexW4392897188

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.