Evidence map›Paper›PMID 37784196›Full record

ArticleBMC research notes2023

Targeted sequencing of selected functional genes in patients with wild-type transthyretin amyloidosis.

Inmaculada Moreno-Gázquez, Raquel Pérez-Palacios, Lucia Abengochea-Quílez, Carmen Lahuerta Pueyo, Ana Roteta Unceta Barrenechea, Alejandro Andrés Gracia, Miguel Angel Aibar Arregui, Sebastián Menao Guillén

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in BMC research notes, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.5field-weighted citation impact, top 32% 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

1 citing paper in PubMed, 3 citations in OpenAlex.

  1. 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

8 authors at 3 institutions in 1 country.

Inmaculada Moreno-GázquezDepartment of Clinical Biochemistry, Hospital Clínico Universitario Lozano Blesa, Zaragoza, Spain. 783161@unizar.es.ORCID http://orcid.org/0000-0002-6937-9712
Raquel Pérez-PalaciosDepartment of Anatomy, Embryology and Genetics, Veterinary Faculty, University of Zaragoza, Zaragoza, Spain.
Lucia Abengochea-QuílezHealth Research Institute in Aragón, Zaragoza, Spain.
Carmen Lahuerta PueyoDepartment of Clinical Biochemistry, Hospital Clínico Universitario Lozano Blesa, Zaragoza, Spain.
Ana Roteta Unceta BarrenecheaDepartment of Nuclear Medicine, Multihospital Nuclear Medicine Clinical Unit of Aragón, Zaragoza, Spain.
Alejandro Andrés GraciaDepartment of Nuclear Medicine, Multihospital Nuclear Medicine Clinical Unit of Aragón, Zaragoza, Spain.
Miguel Angel Aibar ArreguiDepartment of Internal Medicine, Hospital Clínico Universitario Lozano Blesa, Zaragoza, Spain.
Sebastián Menao GuillénDepartment of Clinical Biochemistry, Hospital Clínico Universitario Lozano Blesa, Zaragoza, Spain.
Hospital Clínico Universitario Lozano Blesa · ESInstituto de Investigación Sanitaria Aragón · ESUniversidad de Zaragoza · ES

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectiveWild-type transthyretin (ATTRwt) amyloidosis is caused by the misfolding and deposition of the transthyretin protein (TTR) in the absence of mutations in the TTR gene. Studies regarding the variant form of ATTR amyloidosis (ATTRv) suggest that the presence of single-nucleotide polymorphisms (SNP) in genes other than the TTR, may influence the development of the disease. However, other genetic factors involved in the aetiopathogenesis of ATTRwt are currently unknown. This work investigates the presence of sequence variants in genes selected for their possible impact on ATTRwt amyloidosis. To do so, targeted sequencing of 84 protein-coding genes was performed in a cohort of 27 patients diagnosed with ATTRwt.

resultsAfter applying quality and frequency filtering criteria, 72 rare or novel genetic variants were found. Subsequent classification according to the ACMG-AMP criteria resulted in 17 variants classified as of uncertain significance in 14 different genes. To our knowledge, this is the first report associating novel gene variants with ATTRwt amyloidosis. In conclusion, this study provides potential insights into the aetiopathogenesis of ATTRwt amyloidosis by linking novel coding-gene variants with the occurrence of the disease.

Indexed as

Amyloid Neuropathies, FamilialPrealbuminHumansMutationPrealbuminATTRwt amyloidosisGene variantsTargeted sequencingTransthyretin amyloidosis

Identifiers

PMID37784196
PMCPMC10546623
OpenAlexW4387268280

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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.