Evidence map›Paper›PMID 24587836›Full record

ArticleJournal of Huntington's disease2013

β-Defensin Genomic Copy Number Does Not Influence the Age of Onset in Huntington's Disease.

Angelica Vittori, Michael Orth, Raymund A C Roos, Tiago F Outeiro, Flaviano Giorgini, Edward J Hollox, REGISTRY investigators of the European Huntington’s Disease Network

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In one paragraph

Article in Journal of Huntington's disease, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact, top 89% 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

0 citing papers in PubMed, 1 citations in OpenAlex.

No citing paper in PubMed yet.

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

7 authors at 3 institutions in 4 countries.

Angelica VittoriDepartment of Genetics, University of Leicester, Leicester, UK ; Cell and Molecular Neuroscience Unit, Instituto de Medicina Molecular, Lisboa, Portugal.
Michael OrthDepartment of Neurology, University of Ulm, Ulm, Germany.
Raymund A C RoosLeiden University Medical Center, Department of Neurology, The Netherlands.
Tiago F OuteiroCell and Molecular Neuroscience Unit, Instituto de Medicina Molecular, Lisboa, Portugal ; Faculdade de Medicina da Universidade de Lisboa, Instituto de Fisiologia, Lisboa, Portugal ; University Medical Center Göttingen, Department of NeuroDegeneration and Restorative Research, Göttingen, Germany.
Flaviano GiorginiDepartment of Genetics, University of Leicester, Leicester, UK.
Edward J HolloxDepartment of Genetics, University of Leicester, Leicester, UK.
REGISTRY investigators of the European Huntington’s Disease Network
University of Leicester · GBUniversität Ulm · DEUniversity of Lisbon · PT

Funding

Medical Research Council G0700090Medical Research Council G0801123
6 · The paper itself

Abstract

backgroundHuntington's disease (HD) is an autosomal dominant neurodegenerative disorder caused by the abnormal expansion of a CAG triplet repeat tract in the huntingtin gene. While the length of this CAG expansion is the major determinant of the age of onset (AO), other genetic factors have also been shown to play a modulatory role. Recent evidence suggests that neuroinflammation is a pivotal factor in the pathogenesis of HD, and that targeting this process may have important therapeutic ramifications. The human β-defensin 2 (hBD2) - encoded by

objectiveIn this study we tested the hypothesis that copy number variation (CNV) of the β-defensin region, including METHODS AND

resultsWe genotyped β-defensin CNV in 490 HD individuals using the paralogue ratio test and found no association between β-defensin CNV and onset of HD.

conclusionsWe conclude that it is unlikely that

Indexed as

copy number variationGenetic modifierinflammation

Identifiers

PMID24587836
PMCPMC3935171
OpenAlexW2102047315

What OpenQuestion holds

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Registered trials

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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.