Evidence map›Paper›PMID 31724242›Full record

ArticleMovement disorders : official journal of the Movement Disorder Society2020

Association Between Toll-Like Receptor 4 (TLR4) and Triggering Receptor Expressed on Myeloid Cells 2 (TREM2) Genetic Variants and Clinical Progression of Huntington's Disease.

Romina Vuono, Antonina Kouli, Emilie M Legault, Lauriane Chagnon, Kieren S Allinson, Alberto La Spada, REGISTRY Investigators of the European Huntington's Disease Network, Ida Biunno, Roger A Barker, Janelle Drouin-Ouellet

Open access · hybridAbstract read
In one paragraph

Article in Movement disorders : official journal of the Movement Disorder Society, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed
1.4field-weighted citation impact, top 18% 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

12 citing papers in PubMed, 17 citations in OpenAlex.

  1. Review
  2. Review
  3. Article
  4. Review
  5. Article
  6. Review
  7. Article
  8. Article
  9. Review
  10. Article
  11. Article
  12. 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

10 authors at 6 institutions in 4 countries.

Romina VuonoJohn van Geest Centre for Brain Repair & Department of Neurology, Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom.
Antonina KouliJohn van Geest Centre for Brain Repair & Department of Neurology, Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom.
Emilie M LegaultFaculty of Pharmacy, University of Montreal, Montreal, Quebec, Canada.
Lauriane ChagnonFaculty of Pharmacy, University of Montreal, Montreal, Quebec, Canada.
Kieren S AllinsonDepartment of Pathology, Cambridge University Hospitals NHS (National Health Service) Foundation Trust, Cambridge, United Kingdom.
Alberto La SpadaIntegrated Systems Engineering, Milano, Italy.
REGISTRY Investigators of the European Huntington's Disease Network
Ida BiunnoInstitute for Genetic and Biomedical Research - CNR, Milano, Italy.
Roger A BarkerJohn van Geest Centre for Brain Repair & Department of Neurology, Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom.
Janelle Drouin-OuelletFaculty of Pharmacy, University of Montreal, Montreal, Quebec, Canada.
Université de Montréal · CAUniversity of Cambridge · GBInstitute of Genetic and Biomedical Research · ITIntegrated Systems Solutions (United States) · USMedway School of Pharmacy · GBNational Health Service · GB

Funding

Department of HealthMedical Research Council MC_PC_12009Wellcome Trust
6 · The paper itself

Abstract

backgroundAlthough Huntington's disease (HD) is caused by a single dominant gene, it is clear that there are genetic modifiers that may influence the age of onset and disease progression.

objectivesWe sought to investigate whether new inflammation-related genetic variants may contribute to the onset and progression of HD.

methodsWe first used postmortem brain material from patients at different stages of HD to look at the protein expression of toll-like receptor 4 (TLR4) and triggering receptor expressed on myeloid cells 2 (TREM2). We then genotyped the TREM2 R47H gene variant and 3 TLR4 single nucleotide polymorphisms in a large cohort of HD patients from the European Huntington's Disease Network REGISTRY.

resultsWe found an increase in the number of cells expressing TREM2 and TLR4 in postmortem brain samples from patients dying with HD. We also found that the TREM2 R47H gene variant was associated with changes in cognitive decline in the large cohort of HD patients, whereas 2 of 3 TLR4 single nucleotide polymorphisms assessed were associated with changes in motor progression in this same group.

conclusionsThese findings identify TREM2 and TLR4 as potential genetic modifiers for HD and suggest that inflammation influences disease progression in this condition. © 2019 International Parkinson and Movement Disorder Society.

Indexed as

Alzheimer DiseaseHuntington DiseaseBrainHumansMembrane GlycoproteinsMyeloid CellsReceptors, ImmunologicToll-Like Receptor 4Membrane GlycoproteinsReceptors, ImmunologicTLR4 protein, humanToll-Like Receptor 4TREM2 protein, humancognitive declineHuntingtoninflammationmotor symptomsTLR4TREM2

Identifiers

PMID31724242
PMCPMC7154663
OpenAlexW2987070767

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.