Evidence map›Paper›PMID 30736733›Full record

ArticleBMC genetics2019

Uncovering a multitude of human glucocorticoid receptor variants: an expansive survey of a single gene.

Stacey M Leventhal, Debora Lim, Tajia L Green, Anna E Cantrell, Kiho Cho, David G Greenhalgh

Abstract read
In one paragraph

Article in BMC genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.

0numbers the graph read from it
0cells of the map it votes in
16citing 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

16 citing papers in PubMed.

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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.

Stacey M LeventhalShriners Hospitals for Children Northern California, Sacramento, California, USA.
Debora LimDepartment of Surgery, University of California, Davis, Sacramento, California, USA.
Tajia L GreenShriners Hospitals for Children Northern California, Sacramento, California, USA.
Anna E CantrellDepartment of Surgery, University of California, Davis, Sacramento, California, USA.
Kiho ChoShriners Hospitals for Children Northern California, Sacramento, California, USA. kcho@ucdavis.edu.
David G GreenhalghShriners Hospitals for Children Northern California, Sacramento, California, USA. dggreenhalgh@ucdavis.edu.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundGlucocorticoids are commonly used in the clinical setting for their potent anti-inflammatory effects; however, significant variations in response to treatment have been demonstrated. Although the underlying mechanisms have yet to be fully understood, this variable response may be a result of alterations in human glucocorticoid receptor (hGR) expression and function. In addition to hGRα, the biologically active isoform, a screening of current databases and publications revealed five alternative splice isoforms and hundreds of variants that have been reported to date. Many of these changes in the hGR-coding gene, NR3C1, have been linked to pathophysiology. However, many studies focus on evaluating hGR expression in vitro or detecting previously reported variants.

resultsIn this study, blood from healthy volunteers, burn and asthma patients, as well as from peripheral blood mononuclear cells isolated from leukoreduced donor whole blood, were screened for NR3C1 isoforms. We identified more than 1500 variants, including an additional 21 unique splice isoforms which contain 15 new cryptic exons. A dynamic database, named the Universal hGR (UhGR), was created to annotate and visualize the variants.

conclusionThis identification of naturally occurring and stress-induced hGR isoforms, as well as the establishment of an hGR-specific database, may reveal new patterns or suggest areas of interest that will lead to the improved understanding of the human stress response system.

Indexed as

Genetic VariationAdultAgedAlternative SplicingDatabases, GeneticFemaleGenetic Predisposition to DiseaseHumansINDEL MutationMaleMiddle AgedPolymorphism, Single NucleotideReceptors, GlucocorticoidYoung AdultReceptors, GlucocorticoidAlternative splicingDeletionsGlucocorticoid receptorInsertionsLocus specific databasePolymorphisms

Identifiers

PMID30736733
PMCPMC6368729

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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.